Incidental Mutation 'R1911:Srcap'
ID |
210271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srcap
|
Ensembl Gene |
ENSMUSG00000053877 |
Gene Name |
Snf2-related CREBBP activator protein |
Synonyms |
D030022P06Rik, B930091H02Rik, F630004O05Rik |
MMRRC Submission |
039929-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R1911 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127111155-127160391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127133994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 905
(I905T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066582]
[ENSMUST00000186672]
[ENSMUST00000186954]
[ENSMUST00000187040]
[ENSMUST00000189629]
[ENSMUST00000190390]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066582
AA Change: I885T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063817 Gene: ENSMUSG00000053877 AA Change: I885T
Domain | Start | End | E-Value | Type |
Pfam:HSA
|
108 |
177 |
1.1e-22 |
PFAM |
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
low complexity region
|
264 |
291 |
N/A |
INTRINSIC |
low complexity region
|
303 |
328 |
N/A |
INTRINSIC |
low complexity region
|
377 |
400 |
N/A |
INTRINSIC |
low complexity region
|
460 |
538 |
N/A |
INTRINSIC |
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
DEXDc
|
606 |
798 |
1.22e-34 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186672
AA Change: I905T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140395 Gene: ENSMUSG00000053877 AA Change: I905T
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
HSA
|
125 |
196 |
5.4e-25 |
SMART |
low complexity region
|
257 |
280 |
N/A |
INTRINSIC |
low complexity region
|
283 |
310 |
N/A |
INTRINSIC |
low complexity region
|
322 |
347 |
N/A |
INTRINSIC |
low complexity region
|
396 |
420 |
N/A |
INTRINSIC |
low complexity region
|
480 |
558 |
N/A |
INTRINSIC |
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
DEXDc
|
626 |
818 |
5e-37 |
SMART |
low complexity region
|
993 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1042 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186954
AA Change: I905T
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139536 Gene: ENSMUSG00000053877 AA Change: I905T
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
HSA
|
125 |
196 |
5.4e-25 |
SMART |
low complexity region
|
257 |
280 |
N/A |
INTRINSIC |
low complexity region
|
283 |
310 |
N/A |
INTRINSIC |
low complexity region
|
322 |
347 |
N/A |
INTRINSIC |
low complexity region
|
396 |
420 |
N/A |
INTRINSIC |
low complexity region
|
480 |
558 |
N/A |
INTRINSIC |
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
DEXDc
|
626 |
818 |
5e-37 |
SMART |
low complexity region
|
993 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1042 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1194 |
N/A |
INTRINSIC |
internal_repeat_1
|
1202 |
1245 |
2.24e-5 |
PROSPERO |
low complexity region
|
1274 |
1302 |
N/A |
INTRINSIC |
low complexity region
|
1304 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1335 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1355 |
1370 |
N/A |
INTRINSIC |
low complexity region
|
1414 |
1441 |
N/A |
INTRINSIC |
low complexity region
|
1452 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1504 |
1533 |
N/A |
INTRINSIC |
internal_repeat_1
|
1536 |
1579 |
2.24e-5 |
PROSPERO |
internal_repeat_2
|
1537 |
1559 |
5.66e-5 |
PROSPERO |
internal_repeat_2
|
1569 |
1589 |
5.66e-5 |
PROSPERO |
low complexity region
|
1590 |
1607 |
N/A |
INTRINSIC |
low complexity region
|
1609 |
1627 |
N/A |
INTRINSIC |
low complexity region
|
1644 |
1678 |
N/A |
INTRINSIC |
low complexity region
|
1713 |
1726 |
N/A |
INTRINSIC |
low complexity region
|
1828 |
1840 |
N/A |
INTRINSIC |
HELICc
|
1916 |
1999 |
1.2e-28 |
SMART |
low complexity region
|
2058 |
2078 |
N/A |
INTRINSIC |
coiled coil region
|
2166 |
2201 |
N/A |
INTRINSIC |
low complexity region
|
2282 |
2348 |
N/A |
INTRINSIC |
low complexity region
|
2374 |
2409 |
N/A |
INTRINSIC |
low complexity region
|
2588 |
2600 |
N/A |
INTRINSIC |
low complexity region
|
2642 |
2657 |
N/A |
INTRINSIC |
low complexity region
|
2685 |
2712 |
N/A |
INTRINSIC |
AT_hook
|
2745 |
2757 |
2.4e-2 |
SMART |
low complexity region
|
2797 |
2817 |
N/A |
INTRINSIC |
AT_hook
|
2825 |
2837 |
2.6e-3 |
SMART |
low complexity region
|
2838 |
2849 |
N/A |
INTRINSIC |
low complexity region
|
2858 |
2885 |
N/A |
INTRINSIC |
AT_hook
|
2889 |
2901 |
2.4e-3 |
SMART |
low complexity region
|
2934 |
2945 |
N/A |
INTRINSIC |
low complexity region
|
2946 |
2956 |
N/A |
INTRINSIC |
low complexity region
|
3043 |
3079 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187040
AA Change: I905T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140036 Gene: ENSMUSG00000053877 AA Change: I905T
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
HSA
|
125 |
196 |
5.4e-25 |
SMART |
low complexity region
|
257 |
280 |
N/A |
INTRINSIC |
low complexity region
|
283 |
310 |
N/A |
INTRINSIC |
low complexity region
|
322 |
347 |
N/A |
INTRINSIC |
low complexity region
|
396 |
420 |
N/A |
INTRINSIC |
low complexity region
|
480 |
558 |
N/A |
INTRINSIC |
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
DEXDc
|
626 |
818 |
5e-37 |
SMART |
low complexity region
|
993 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1042 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1277 |
1305 |
N/A |
INTRINSIC |
low complexity region
|
1332 |
1351 |
N/A |
INTRINSIC |
internal_repeat_1
|
1359 |
1402 |
1.78e-5 |
PROSPERO |
low complexity region
|
1431 |
1459 |
N/A |
INTRINSIC |
low complexity region
|
1461 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1492 |
1510 |
N/A |
INTRINSIC |
low complexity region
|
1512 |
1527 |
N/A |
INTRINSIC |
low complexity region
|
1571 |
1598 |
N/A |
INTRINSIC |
low complexity region
|
1609 |
1623 |
N/A |
INTRINSIC |
low complexity region
|
1661 |
1690 |
N/A |
INTRINSIC |
internal_repeat_1
|
1693 |
1736 |
1.78e-5 |
PROSPERO |
internal_repeat_2
|
1694 |
1716 |
4.56e-5 |
PROSPERO |
internal_repeat_2
|
1726 |
1746 |
4.56e-5 |
PROSPERO |
low complexity region
|
1747 |
1764 |
N/A |
INTRINSIC |
low complexity region
|
1766 |
1784 |
N/A |
INTRINSIC |
low complexity region
|
1801 |
1835 |
N/A |
INTRINSIC |
low complexity region
|
1870 |
1883 |
N/A |
INTRINSIC |
low complexity region
|
1985 |
1997 |
N/A |
INTRINSIC |
HELICc
|
2073 |
2156 |
1.2e-28 |
SMART |
low complexity region
|
2215 |
2235 |
N/A |
INTRINSIC |
coiled coil region
|
2323 |
2358 |
N/A |
INTRINSIC |
low complexity region
|
2439 |
2505 |
N/A |
INTRINSIC |
low complexity region
|
2531 |
2566 |
N/A |
INTRINSIC |
low complexity region
|
2745 |
2757 |
N/A |
INTRINSIC |
low complexity region
|
2799 |
2814 |
N/A |
INTRINSIC |
low complexity region
|
2842 |
2869 |
N/A |
INTRINSIC |
AT_hook
|
2902 |
2914 |
2.4e-2 |
SMART |
low complexity region
|
2954 |
2974 |
N/A |
INTRINSIC |
AT_hook
|
2982 |
2994 |
2.6e-3 |
SMART |
low complexity region
|
2995 |
3006 |
N/A |
INTRINSIC |
low complexity region
|
3015 |
3042 |
N/A |
INTRINSIC |
AT_hook
|
3046 |
3058 |
2.4e-3 |
SMART |
low complexity region
|
3091 |
3102 |
N/A |
INTRINSIC |
low complexity region
|
3103 |
3113 |
N/A |
INTRINSIC |
low complexity region
|
3200 |
3236 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187164
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189629
AA Change: I886T
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139644 Gene: ENSMUSG00000107023 AA Change: I886T
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
HSA
|
106 |
177 |
5.4e-25 |
SMART |
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
low complexity region
|
264 |
291 |
N/A |
INTRINSIC |
low complexity region
|
303 |
328 |
N/A |
INTRINSIC |
low complexity region
|
377 |
401 |
N/A |
INTRINSIC |
low complexity region
|
461 |
539 |
N/A |
INTRINSIC |
low complexity region
|
558 |
573 |
N/A |
INTRINSIC |
DEXDc
|
607 |
799 |
5e-37 |
SMART |
low complexity region
|
974 |
982 |
N/A |
INTRINSIC |
low complexity region
|
1008 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1156 |
1175 |
N/A |
INTRINSIC |
internal_repeat_1
|
1183 |
1226 |
2e-5 |
PROSPERO |
low complexity region
|
1255 |
1283 |
N/A |
INTRINSIC |
low complexity region
|
1285 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1334 |
N/A |
INTRINSIC |
low complexity region
|
1336 |
1351 |
N/A |
INTRINSIC |
low complexity region
|
1395 |
1422 |
N/A |
INTRINSIC |
low complexity region
|
1433 |
1447 |
N/A |
INTRINSIC |
low complexity region
|
1485 |
1514 |
N/A |
INTRINSIC |
internal_repeat_1
|
1517 |
1560 |
2e-5 |
PROSPERO |
internal_repeat_2
|
1518 |
1540 |
5.08e-5 |
PROSPERO |
internal_repeat_2
|
1550 |
1570 |
5.08e-5 |
PROSPERO |
low complexity region
|
1571 |
1588 |
N/A |
INTRINSIC |
low complexity region
|
1590 |
1608 |
N/A |
INTRINSIC |
low complexity region
|
1625 |
1659 |
N/A |
INTRINSIC |
low complexity region
|
1694 |
1707 |
N/A |
INTRINSIC |
low complexity region
|
1809 |
1821 |
N/A |
INTRINSIC |
HELICc
|
1897 |
1980 |
1.2e-28 |
SMART |
low complexity region
|
2039 |
2059 |
N/A |
INTRINSIC |
coiled coil region
|
2147 |
2182 |
N/A |
INTRINSIC |
low complexity region
|
2263 |
2329 |
N/A |
INTRINSIC |
low complexity region
|
2355 |
2390 |
N/A |
INTRINSIC |
low complexity region
|
2569 |
2581 |
N/A |
INTRINSIC |
low complexity region
|
2623 |
2638 |
N/A |
INTRINSIC |
low complexity region
|
2666 |
2693 |
N/A |
INTRINSIC |
AT_hook
|
2726 |
2738 |
2.4e-2 |
SMART |
low complexity region
|
2778 |
2798 |
N/A |
INTRINSIC |
AT_hook
|
2806 |
2818 |
2.6e-3 |
SMART |
low complexity region
|
2819 |
2830 |
N/A |
INTRINSIC |
low complexity region
|
2839 |
2866 |
N/A |
INTRINSIC |
AT_hook
|
2870 |
2882 |
2.4e-3 |
SMART |
low complexity region
|
2915 |
2926 |
N/A |
INTRINSIC |
low complexity region
|
2927 |
2937 |
N/A |
INTRINSIC |
low complexity region
|
3024 |
3060 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190390
AA Change: I905T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139399 Gene: ENSMUSG00000053877 AA Change: I905T
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
HSA
|
125 |
196 |
5.4e-25 |
SMART |
low complexity region
|
257 |
280 |
N/A |
INTRINSIC |
low complexity region
|
283 |
310 |
N/A |
INTRINSIC |
low complexity region
|
322 |
347 |
N/A |
INTRINSIC |
low complexity region
|
396 |
420 |
N/A |
INTRINSIC |
low complexity region
|
480 |
558 |
N/A |
INTRINSIC |
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
DEXDc
|
626 |
818 |
5e-37 |
SMART |
low complexity region
|
993 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1042 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1271 |
1290 |
N/A |
INTRINSIC |
internal_repeat_1
|
1298 |
1341 |
2.01e-5 |
PROSPERO |
low complexity region
|
1370 |
1398 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1414 |
N/A |
INTRINSIC |
low complexity region
|
1431 |
1449 |
N/A |
INTRINSIC |
low complexity region
|
1451 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1510 |
1537 |
N/A |
INTRINSIC |
low complexity region
|
1548 |
1562 |
N/A |
INTRINSIC |
low complexity region
|
1600 |
1629 |
N/A |
INTRINSIC |
internal_repeat_1
|
1632 |
1675 |
2.01e-5 |
PROSPERO |
internal_repeat_2
|
1633 |
1655 |
5.11e-5 |
PROSPERO |
internal_repeat_2
|
1665 |
1685 |
5.11e-5 |
PROSPERO |
low complexity region
|
1686 |
1703 |
N/A |
INTRINSIC |
low complexity region
|
1705 |
1723 |
N/A |
INTRINSIC |
low complexity region
|
1740 |
1774 |
N/A |
INTRINSIC |
low complexity region
|
1809 |
1822 |
N/A |
INTRINSIC |
low complexity region
|
1924 |
1936 |
N/A |
INTRINSIC |
HELICc
|
2012 |
2095 |
1.2e-28 |
SMART |
low complexity region
|
2154 |
2174 |
N/A |
INTRINSIC |
coiled coil region
|
2262 |
2297 |
N/A |
INTRINSIC |
low complexity region
|
2378 |
2444 |
N/A |
INTRINSIC |
low complexity region
|
2470 |
2505 |
N/A |
INTRINSIC |
low complexity region
|
2684 |
2696 |
N/A |
INTRINSIC |
low complexity region
|
2738 |
2753 |
N/A |
INTRINSIC |
low complexity region
|
2781 |
2808 |
N/A |
INTRINSIC |
AT_hook
|
2841 |
2853 |
2.4e-2 |
SMART |
low complexity region
|
2893 |
2913 |
N/A |
INTRINSIC |
AT_hook
|
2921 |
2933 |
2.6e-3 |
SMART |
low complexity region
|
2934 |
2945 |
N/A |
INTRINSIC |
low complexity region
|
2954 |
2981 |
N/A |
INTRINSIC |
AT_hook
|
2985 |
2997 |
2.4e-3 |
SMART |
low complexity region
|
3030 |
3041 |
N/A |
INTRINSIC |
low complexity region
|
3042 |
3052 |
N/A |
INTRINSIC |
low complexity region
|
3139 |
3175 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189812
|
Meta Mutation Damage Score |
0.3843 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.2%
|
Validation Efficiency |
99% (99/100) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
T |
A |
6: 91,927,050 (GRCm39) |
|
probably benign |
Het |
Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,925,483 (GRCm39) |
E82G |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
Adam19 |
T |
C |
11: 46,012,281 (GRCm39) |
V259A |
probably damaging |
Het |
Adss1 |
T |
C |
12: 112,599,443 (GRCm39) |
V140A |
probably benign |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Aldh3b1 |
T |
G |
19: 3,971,187 (GRCm39) |
D159A |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,589,666 (GRCm39) |
V589A |
probably damaging |
Het |
Ano2 |
G |
A |
6: 125,990,654 (GRCm39) |
D803N |
probably benign |
Het |
Arid1b |
A |
G |
17: 5,393,241 (GRCm39) |
E2257G |
probably damaging |
Het |
Asb17 |
T |
C |
3: 153,550,138 (GRCm39) |
Y57H |
probably benign |
Het |
Asph |
T |
C |
4: 9,453,335 (GRCm39) |
E646G |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,405,832 (GRCm39) |
I1573K |
probably benign |
Het |
Bcas1 |
C |
A |
2: 170,229,863 (GRCm39) |
D236Y |
probably damaging |
Het |
Bcas2 |
G |
T |
3: 103,079,113 (GRCm39) |
G9* |
probably null |
Het |
Btaf1 |
A |
G |
19: 36,964,030 (GRCm39) |
Q867R |
probably benign |
Het |
Calhm3 |
C |
T |
19: 47,143,908 (GRCm39) |
V132I |
possibly damaging |
Het |
Ccer1 |
A |
T |
10: 97,530,539 (GRCm39) |
I401F |
possibly damaging |
Het |
Cdcp3 |
T |
C |
7: 130,839,818 (GRCm39) |
V580A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,526 (GRCm39) |
|
probably benign |
Het |
Cep104 |
G |
A |
4: 154,091,255 (GRCm39) |
R925Q |
possibly damaging |
Het |
Cep164 |
T |
A |
9: 45,682,104 (GRCm39) |
M1900L |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,873,673 (GRCm39) |
V1145A |
possibly damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,008,399 (GRCm39) |
N180K |
possibly damaging |
Het |
Dennd4a |
T |
C |
9: 64,796,368 (GRCm39) |
L798P |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,011,230 (GRCm39) |
I1129T |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,406,578 (GRCm39) |
N555D |
possibly damaging |
Het |
Dock1 |
T |
A |
7: 134,601,029 (GRCm39) |
M988K |
probably damaging |
Het |
Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
Endov |
T |
C |
11: 119,393,177 (GRCm39) |
V109A |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,663,625 (GRCm39) |
Y477C |
probably damaging |
Het |
Erlin1 |
A |
G |
19: 44,037,561 (GRCm39) |
M188T |
probably damaging |
Het |
Fhip1a |
T |
A |
3: 85,568,525 (GRCm39) |
D998V |
probably benign |
Het |
Fhod3 |
A |
T |
18: 25,245,643 (GRCm39) |
D1231V |
possibly damaging |
Het |
Gimap3 |
T |
A |
6: 48,742,646 (GRCm39) |
I95F |
possibly damaging |
Het |
Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
Grk1 |
C |
A |
8: 13,457,923 (GRCm39) |
D274E |
probably damaging |
Het |
Gsdmc2 |
G |
A |
15: 63,699,621 (GRCm39) |
A269V |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,175 (GRCm39) |
Q289L |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,796,600 (GRCm39) |
K403* |
probably null |
Het |
Lcn4 |
T |
C |
2: 26,560,607 (GRCm39) |
|
probably benign |
Het |
Mab21l1 |
T |
C |
3: 55,691,048 (GRCm39) |
S212P |
possibly damaging |
Het |
Mapk8ip3 |
A |
C |
17: 25,123,025 (GRCm39) |
D610E |
probably benign |
Het |
Mastl |
G |
T |
2: 23,022,692 (GRCm39) |
S677* |
probably null |
Het |
Mfap3 |
T |
C |
11: 57,420,562 (GRCm39) |
F181S |
probably damaging |
Het |
Mlkl |
T |
C |
8: 112,038,732 (GRCm39) |
|
probably benign |
Het |
Mov10 |
G |
A |
3: 104,708,876 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,350,041 (GRCm39) |
F595L |
probably benign |
Het |
Nbas |
T |
A |
12: 13,616,145 (GRCm39) |
C2228S |
probably benign |
Het |
Nit2 |
G |
A |
16: 56,982,046 (GRCm39) |
|
probably benign |
Het |
Nod1 |
C |
T |
6: 54,921,425 (GRCm39) |
V298M |
probably damaging |
Het |
Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
Or4c111 |
A |
G |
2: 88,843,565 (GRCm39) |
L281P |
probably damaging |
Het |
Or52b1 |
T |
A |
7: 104,978,590 (GRCm39) |
I270F |
probably benign |
Het |
Or6c210 |
A |
T |
10: 129,495,981 (GRCm39) |
D102V |
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,900,196 (GRCm39) |
L304P |
probably damaging |
Het |
Osbpl5 |
C |
A |
7: 143,243,662 (GRCm39) |
R864L |
probably benign |
Het |
Pcnt |
G |
A |
10: 76,204,650 (GRCm39) |
T2585M |
possibly damaging |
Het |
Pepd |
C |
T |
7: 34,634,174 (GRCm39) |
|
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,326,548 (GRCm39) |
I341V |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,309 (GRCm39) |
Q32R |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,091,038 (GRCm39) |
F281I |
probably benign |
Het |
Psg19 |
T |
G |
7: 18,528,193 (GRCm39) |
Q183H |
probably damaging |
Het |
Psme4 |
T |
G |
11: 30,765,658 (GRCm39) |
S587A |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,377,617 (GRCm39) |
|
probably benign |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,838,302 (GRCm39) |
V92A |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rexo5 |
C |
T |
7: 119,398,867 (GRCm39) |
A68V |
probably damaging |
Het |
Robo2 |
A |
T |
16: 73,755,213 (GRCm39) |
N769K |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,237 (GRCm39) |
V278I |
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,234 (GRCm39) |
S309P |
possibly damaging |
Het |
Slc22a6 |
A |
C |
19: 8,599,246 (GRCm39) |
Q292H |
probably benign |
Het |
Slc4a3 |
G |
A |
1: 75,530,367 (GRCm39) |
R690H |
probably damaging |
Het |
Snx7 |
A |
T |
3: 117,623,317 (GRCm39) |
|
probably null |
Het |
Spag6 |
T |
A |
2: 18,720,616 (GRCm39) |
Y129* |
probably null |
Het |
St6gal1 |
T |
G |
16: 23,140,383 (GRCm39) |
S185A |
probably damaging |
Het |
Sult6b1 |
G |
A |
17: 79,196,393 (GRCm39) |
H250Y |
possibly damaging |
Het |
Tdrd6 |
T |
G |
17: 43,937,979 (GRCm39) |
N1023T |
probably benign |
Het |
Tecta |
C |
T |
9: 42,249,232 (GRCm39) |
E1877K |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tex14 |
T |
A |
11: 87,385,861 (GRCm39) |
D240E |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,910,104 (GRCm39) |
V165A |
probably benign |
Het |
Tmem126b |
T |
A |
7: 90,118,367 (GRCm39) |
Y171F |
possibly damaging |
Het |
Tpsg1 |
G |
T |
17: 25,592,374 (GRCm39) |
M46I |
probably benign |
Het |
Trmt2a |
A |
G |
16: 18,069,070 (GRCm39) |
K304R |
probably benign |
Het |
Ttc28 |
G |
T |
5: 111,428,616 (GRCm39) |
R1845L |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,211,128 (GRCm39) |
T884S |
possibly damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,461,001 (GRCm39) |
K776E |
probably damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,655,671 (GRCm39) |
S627P |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,024,236 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,783,137 (GRCm39) |
M1079T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,348,233 (GRCm39) |
*41Q |
probably null |
Het |
Znrf1 |
T |
C |
8: 112,348,244 (GRCm39) |
F183L |
possibly damaging |
Het |
|
Other mutations in Srcap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Srcap
|
APN |
7 |
127,141,885 (GRCm39) |
splice site |
probably benign |
|
IGL00475:Srcap
|
APN |
7 |
127,152,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01064:Srcap
|
APN |
7 |
127,159,064 (GRCm39) |
unclassified |
probably benign |
|
IGL01129:Srcap
|
APN |
7 |
127,120,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Srcap
|
APN |
7 |
127,127,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01861:Srcap
|
APN |
7 |
127,124,457 (GRCm39) |
splice site |
probably benign |
|
IGL02237:Srcap
|
APN |
7 |
127,133,864 (GRCm39) |
splice site |
probably benign |
|
IGL02665:Srcap
|
APN |
7 |
127,140,075 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02688:Srcap
|
APN |
7 |
127,141,625 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02744:Srcap
|
APN |
7 |
127,133,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Srcap
|
APN |
7 |
127,120,835 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03184:Srcap
|
APN |
7 |
127,129,674 (GRCm39) |
unclassified |
probably benign |
|
IGL03309:Srcap
|
APN |
7 |
127,129,965 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4453001:Srcap
|
UTSW |
7 |
127,148,492 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1340:Srcap
|
UTSW |
7 |
127,159,910 (GRCm39) |
intron |
probably benign |
|
R1401:Srcap
|
UTSW |
7 |
127,159,124 (GRCm39) |
unclassified |
probably benign |
|
R1455:Srcap
|
UTSW |
7 |
127,129,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Srcap
|
UTSW |
7 |
127,158,899 (GRCm39) |
unclassified |
probably benign |
|
R1470:Srcap
|
UTSW |
7 |
127,158,899 (GRCm39) |
unclassified |
probably benign |
|
R1761:Srcap
|
UTSW |
7 |
127,134,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2483:Srcap
|
UTSW |
7 |
127,141,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R2892:Srcap
|
UTSW |
7 |
127,138,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R2893:Srcap
|
UTSW |
7 |
127,138,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R3623:Srcap
|
UTSW |
7 |
127,141,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R3976:Srcap
|
UTSW |
7 |
127,148,411 (GRCm39) |
missense |
probably benign |
0.18 |
R4001:Srcap
|
UTSW |
7 |
127,131,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4015:Srcap
|
UTSW |
7 |
127,124,595 (GRCm39) |
missense |
probably benign |
0.27 |
R4581:Srcap
|
UTSW |
7 |
127,157,482 (GRCm39) |
unclassified |
probably benign |
|
R4643:Srcap
|
UTSW |
7 |
127,140,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4644:Srcap
|
UTSW |
7 |
127,151,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4690:Srcap
|
UTSW |
7 |
127,137,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R4693:Srcap
|
UTSW |
7 |
127,137,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R4719:Srcap
|
UTSW |
7 |
127,140,731 (GRCm39) |
missense |
probably benign |
0.13 |
R4728:Srcap
|
UTSW |
7 |
127,140,096 (GRCm39) |
critical splice donor site |
probably null |
|
R4740:Srcap
|
UTSW |
7 |
127,148,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Srcap
|
UTSW |
7 |
127,158,172 (GRCm39) |
unclassified |
probably benign |
|
R4834:Srcap
|
UTSW |
7 |
127,156,782 (GRCm39) |
critical splice donor site |
probably null |
|
R4837:Srcap
|
UTSW |
7 |
127,158,134 (GRCm39) |
unclassified |
probably benign |
|
R4884:Srcap
|
UTSW |
7 |
127,121,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Srcap
|
UTSW |
7 |
127,137,719 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5088:Srcap
|
UTSW |
7 |
127,140,833 (GRCm39) |
missense |
probably benign |
0.02 |
R5102:Srcap
|
UTSW |
7 |
127,129,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5358:Srcap
|
UTSW |
7 |
127,139,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R5372:Srcap
|
UTSW |
7 |
127,156,785 (GRCm39) |
splice site |
probably null |
|
R5397:Srcap
|
UTSW |
7 |
127,152,468 (GRCm39) |
critical splice donor site |
probably null |
|
R5481:Srcap
|
UTSW |
7 |
127,131,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Srcap
|
UTSW |
7 |
127,124,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R5584:Srcap
|
UTSW |
7 |
127,127,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5693:Srcap
|
UTSW |
7 |
127,118,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Srcap
|
UTSW |
7 |
127,158,994 (GRCm39) |
unclassified |
probably benign |
|
R5805:Srcap
|
UTSW |
7 |
127,141,211 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5806:Srcap
|
UTSW |
7 |
127,158,335 (GRCm39) |
unclassified |
probably benign |
|
R5921:Srcap
|
UTSW |
7 |
127,158,005 (GRCm39) |
unclassified |
probably benign |
|
R5942:Srcap
|
UTSW |
7 |
127,137,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R6014:Srcap
|
UTSW |
7 |
127,137,922 (GRCm39) |
missense |
probably benign |
0.01 |
R6057:Srcap
|
UTSW |
7 |
127,140,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R6113:Srcap
|
UTSW |
7 |
127,159,453 (GRCm39) |
unclassified |
probably benign |
|
R6150:Srcap
|
UTSW |
7 |
127,134,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R6212:Srcap
|
UTSW |
7 |
127,148,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Srcap
|
UTSW |
7 |
127,129,626 (GRCm39) |
unclassified |
probably benign |
|
R6437:Srcap
|
UTSW |
7 |
127,127,722 (GRCm39) |
splice site |
probably null |
|
R6492:Srcap
|
UTSW |
7 |
127,121,317 (GRCm39) |
nonsense |
probably null |
|
R6537:Srcap
|
UTSW |
7 |
127,141,392 (GRCm39) |
missense |
probably damaging |
0.97 |
R6659:Srcap
|
UTSW |
7 |
127,141,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R6713:Srcap
|
UTSW |
7 |
127,134,089 (GRCm39) |
missense |
probably benign |
0.28 |
R6717:Srcap
|
UTSW |
7 |
127,157,482 (GRCm39) |
unclassified |
probably benign |
|
R6941:Srcap
|
UTSW |
7 |
127,141,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7068:Srcap
|
UTSW |
7 |
127,141,115 (GRCm39) |
missense |
probably benign |
0.00 |
R7097:Srcap
|
UTSW |
7 |
127,138,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Srcap
|
UTSW |
7 |
127,134,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Srcap
|
UTSW |
7 |
127,137,689 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7434:Srcap
|
UTSW |
7 |
127,159,414 (GRCm39) |
missense |
unknown |
|
R7559:Srcap
|
UTSW |
7 |
127,129,722 (GRCm39) |
missense |
unknown |
|
R7638:Srcap
|
UTSW |
7 |
127,137,920 (GRCm39) |
missense |
probably benign |
0.39 |
R7677:Srcap
|
UTSW |
7 |
127,158,980 (GRCm39) |
missense |
unknown |
|
R7715:Srcap
|
UTSW |
7 |
127,148,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R7757:Srcap
|
UTSW |
7 |
127,129,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R7811:Srcap
|
UTSW |
7 |
127,141,221 (GRCm39) |
missense |
probably damaging |
0.97 |
R7821:Srcap
|
UTSW |
7 |
127,129,499 (GRCm39) |
unclassified |
probably benign |
|
R7869:Srcap
|
UTSW |
7 |
127,138,366 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7870:Srcap
|
UTSW |
7 |
127,159,730 (GRCm39) |
missense |
unknown |
|
R7941:Srcap
|
UTSW |
7 |
127,157,462 (GRCm39) |
unclassified |
probably benign |
|
R7994:Srcap
|
UTSW |
7 |
127,140,930 (GRCm39) |
missense |
probably benign |
0.00 |
R8035:Srcap
|
UTSW |
7 |
127,141,784 (GRCm39) |
missense |
probably benign |
0.05 |
R8066:Srcap
|
UTSW |
7 |
127,120,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R8066:Srcap
|
UTSW |
7 |
127,139,484 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8168:Srcap
|
UTSW |
7 |
127,141,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8194:Srcap
|
UTSW |
7 |
127,138,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8288:Srcap
|
UTSW |
7 |
127,130,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Srcap
|
UTSW |
7 |
127,124,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8308:Srcap
|
UTSW |
7 |
127,152,353 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8309:Srcap
|
UTSW |
7 |
127,148,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R8311:Srcap
|
UTSW |
7 |
127,156,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R8321:Srcap
|
UTSW |
7 |
127,140,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R8365:Srcap
|
UTSW |
7 |
127,148,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R8424:Srcap
|
UTSW |
7 |
127,141,560 (GRCm39) |
missense |
probably benign |
0.00 |
R8815:Srcap
|
UTSW |
7 |
127,158,037 (GRCm39) |
missense |
unknown |
|
R8817:Srcap
|
UTSW |
7 |
127,152,395 (GRCm39) |
missense |
probably benign |
0.23 |
R8924:Srcap
|
UTSW |
7 |
127,158,204 (GRCm39) |
missense |
unknown |
|
R8933:Srcap
|
UTSW |
7 |
127,151,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8961:Srcap
|
UTSW |
7 |
127,141,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Srcap
|
UTSW |
7 |
127,130,943 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9098:Srcap
|
UTSW |
7 |
127,151,816 (GRCm39) |
missense |
probably damaging |
0.99 |
R9124:Srcap
|
UTSW |
7 |
127,159,874 (GRCm39) |
missense |
unknown |
|
R9163:Srcap
|
UTSW |
7 |
127,121,162 (GRCm39) |
missense |
unknown |
|
R9332:Srcap
|
UTSW |
7 |
127,158,812 (GRCm39) |
missense |
unknown |
|
R9389:Srcap
|
UTSW |
7 |
127,141,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Srcap
|
UTSW |
7 |
127,137,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9467:Srcap
|
UTSW |
7 |
127,139,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R9554:Srcap
|
UTSW |
7 |
127,151,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9596:Srcap
|
UTSW |
7 |
127,131,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9597:Srcap
|
UTSW |
7 |
127,121,219 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0025:Srcap
|
UTSW |
7 |
127,159,277 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAACGCTGTCTCTATGATGAC -3'
(R):5'- AGTTAATGTACAAAAGGTCAGGCC -3'
Sequencing Primer
(F):5'- AACGCTGTCTCTATGATGACTTCATG -3'
(R):5'- TCAGGCCTTAGAGTGGAGAC -3'
|
Posted On |
2014-06-30 |