Incidental Mutation 'R9124:Srcap'
ID |
693099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srcap
|
Ensembl Gene |
ENSMUSG00000053877 |
Gene Name |
Snf2-related CREBBP activator protein |
Synonyms |
D030022P06Rik, B930091H02Rik, F630004O05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R9124 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127111155-127160391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 127159874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 3250
(R3250L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084563]
[ENSMUST00000186954]
[ENSMUST00000187040]
[ENSMUST00000189629]
[ENSMUST00000190278]
[ENSMUST00000190390]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084563
|
SMART Domains |
Protein: ENSMUSP00000081611 Gene: ENSMUSG00000106715
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
AT_hook
|
62 |
74 |
4.04e0 |
SMART |
low complexity region
|
114 |
134 |
N/A |
INTRINSIC |
AT_hook
|
142 |
154 |
4.46e-1 |
SMART |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
175 |
202 |
N/A |
INTRINSIC |
AT_hook
|
206 |
218 |
3.94e-1 |
SMART |
low complexity region
|
251 |
262 |
N/A |
INTRINSIC |
low complexity region
|
263 |
273 |
N/A |
INTRINSIC |
low complexity region
|
360 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000186954
AA Change: R3093L
|
SMART Domains |
Protein: ENSMUSP00000139536 Gene: ENSMUSG00000053877 AA Change: R3093L
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 |
unknown
Transcript: ENSMUST00000187040
AA Change: R3250L
|
SMART Domains |
Protein: ENSMUSP00000140036 Gene: ENSMUSG00000053877 AA Change: R3250L
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 |
unknown
Transcript: ENSMUST00000189629
AA Change: R3074L
|
SMART Domains |
Protein: ENSMUSP00000139644 Gene: ENSMUSG00000107023 AA Change: R3074L
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 benign
Transcript: ENSMUST00000190278
|
SMART Domains |
Protein: ENSMUSP00000144111 Gene: ENSMUSG00000106715
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190390
AA Change: R3189L
|
SMART Domains |
Protein: ENSMUSP00000139399 Gene: ENSMUSG00000053877 AA Change: R3189L
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 |
probably benign
Transcript: ENSMUST00000206825
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (91/91) |
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
G |
T |
15: 60,792,679 (GRCm39) |
N89K |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,189,005 (GRCm39) |
D817E |
possibly damaging |
Het |
Abca8b |
G |
A |
11: 109,828,593 (GRCm39) |
S1435F |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,111,284 (GRCm39) |
L3115P |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,619,467 (GRCm39) |
R706W |
probably damaging |
Het |
Atp5mk |
T |
C |
19: 47,074,578 (GRCm39) |
M28V |
probably benign |
Het |
BC061237 |
A |
T |
14: 44,740,851 (GRCm39) |
I84F |
possibly damaging |
Het |
Bhlhe22 |
T |
C |
3: 18,109,342 (GRCm39) |
S131P |
probably damaging |
Het |
Brinp1 |
C |
A |
4: 68,747,582 (GRCm39) |
D174Y |
probably damaging |
Het |
Bsdc1 |
A |
G |
4: 129,359,068 (GRCm39) |
T40A |
probably benign |
Het |
Ccdc65 |
A |
T |
15: 98,618,863 (GRCm39) |
K281* |
probably null |
Het |
Cd22 |
T |
C |
7: 30,572,662 (GRCm39) |
I316V |
probably benign |
Het |
Cdhr18 |
A |
G |
14: 13,864,354 (GRCm38) |
F324S |
|
Het |
Cfap100 |
A |
C |
6: 90,386,330 (GRCm39) |
I275S |
|
Het |
Chd3 |
T |
G |
11: 69,260,162 (GRCm39) |
E19A |
unknown |
Het |
Chrnb1 |
T |
C |
11: 69,685,057 (GRCm39) |
D91G |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,799,925 (GRCm39) |
S250P |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,034,806 (GRCm39) |
V2455A |
probably damaging |
Het |
Dbp |
C |
T |
7: 45,357,818 (GRCm39) |
R229C |
probably damaging |
Het |
Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,098,882 (GRCm39) |
V2058F |
possibly damaging |
Het |
Dsp |
T |
A |
13: 38,377,276 (GRCm39) |
V1687D |
probably benign |
Het |
Dtd1 |
T |
A |
2: 144,445,798 (GRCm39) |
M45K |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,403,363 (GRCm39) |
F38Y |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,478,064 (GRCm39) |
V2370E |
possibly damaging |
Het |
Fgfr1 |
T |
A |
8: 26,060,185 (GRCm39) |
D438E |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,816,103 (GRCm39) |
K3945N |
probably benign |
Het |
Galc |
C |
A |
12: 98,220,423 (GRCm39) |
|
probably null |
Het |
Git1 |
C |
A |
11: 77,395,498 (GRCm39) |
D398E |
possibly damaging |
Het |
Gm4924 |
A |
G |
10: 82,214,875 (GRCm39) |
Q891R |
unknown |
Het |
Gpc2 |
T |
C |
5: 138,274,784 (GRCm39) |
|
probably benign |
Het |
Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,834,056 (GRCm39) |
N3087S |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,579,193 (GRCm39) |
|
probably null |
Het |
Imp4 |
C |
T |
1: 34,479,128 (GRCm39) |
R4W |
unknown |
Het |
Itfg2 |
A |
G |
6: 128,401,770 (GRCm39) |
S3P |
probably damaging |
Het |
Kcnn3 |
C |
T |
3: 89,428,536 (GRCm39) |
T254I |
possibly damaging |
Het |
Kics2 |
C |
T |
10: 121,586,416 (GRCm39) |
Q244* |
probably null |
Het |
Kpna1 |
A |
G |
16: 35,853,644 (GRCm39) |
I425V |
probably benign |
Het |
Krt23 |
A |
T |
11: 99,383,755 (GRCm39) |
S46T |
probably damaging |
Het |
Loxl4 |
C |
A |
19: 42,596,099 (GRCm39) |
W118L |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,509,721 (GRCm39) |
Y749C |
unknown |
Het |
Lysmd2 |
T |
A |
9: 75,533,075 (GRCm39) |
L10Q |
probably damaging |
Het |
Mcm5 |
T |
A |
8: 75,851,418 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,909,178 (GRCm39) |
D45V |
probably damaging |
Het |
Mdfic2 |
T |
A |
6: 98,318,899 (GRCm39) |
N22I |
possibly damaging |
Het |
Mfsd10 |
T |
C |
5: 34,791,940 (GRCm39) |
T341A |
probably benign |
Het |
Micu1 |
T |
A |
10: 59,586,335 (GRCm39) |
L170Q |
probably damaging |
Het |
Msantd5 |
T |
C |
11: 51,125,481 (GRCm39) |
S135P |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
Myo15a |
A |
T |
11: 60,369,952 (GRCm39) |
Q904L |
probably benign |
Het |
Myo6 |
G |
A |
9: 80,195,353 (GRCm39) |
D908N |
unknown |
Het |
Nlrp4e |
A |
T |
7: 23,020,403 (GRCm39) |
M297L |
probably benign |
Het |
Nptn |
A |
G |
9: 58,558,498 (GRCm39) |
|
probably benign |
Het |
Oas3 |
A |
C |
5: 120,912,170 (GRCm39) |
D73E |
probably damaging |
Het |
Or12j5 |
T |
A |
7: 140,084,222 (GRCm39) |
H50L |
probably benign |
Het |
Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
Or6n1 |
T |
C |
1: 173,917,341 (GRCm39) |
L245P |
probably damaging |
Het |
Pck1 |
C |
G |
2: 172,997,018 (GRCm39) |
A220G |
probably benign |
Het |
Pigq |
G |
A |
17: 26,156,233 (GRCm39) |
T65I |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,431,696 (GRCm39) |
F9L |
probably damaging |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Pnkd |
A |
G |
1: 74,386,602 (GRCm39) |
R138G |
possibly damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,781,881 (GRCm39) |
I781N |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,328,719 (GRCm39) |
I2873V |
probably benign |
Het |
Rpn2 |
C |
A |
2: 157,139,458 (GRCm39) |
Q283K |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,355,561 (GRCm39) |
S178P |
possibly damaging |
Het |
Shroom3 |
A |
G |
5: 93,112,401 (GRCm39) |
K1921E |
probably benign |
Het |
Slc20a1 |
A |
G |
2: 129,051,142 (GRCm39) |
S600G |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,668,830 (GRCm39) |
V534A |
possibly damaging |
Het |
Slit1 |
C |
T |
19: 41,594,951 (GRCm39) |
V1140I |
probably benign |
Het |
Sncg |
T |
C |
14: 34,095,640 (GRCm39) |
S51G |
possibly damaging |
Het |
Spon2 |
C |
A |
5: 33,372,935 (GRCm39) |
D256Y |
possibly damaging |
Het |
Sun1 |
T |
G |
5: 139,231,121 (GRCm39) |
Y763* |
probably null |
Het |
Synj1 |
A |
T |
16: 90,735,513 (GRCm39) |
F1480Y |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,132,716 (GRCm39) |
N216I |
probably damaging |
Het |
Tent2 |
A |
T |
13: 93,284,160 (GRCm39) |
L465* |
probably null |
Het |
Tgfb1 |
A |
T |
7: 25,388,580 (GRCm39) |
K39* |
probably null |
Het |
Tmem87a |
A |
G |
2: 120,224,841 (GRCm39) |
|
probably null |
Het |
Tmem8b |
C |
A |
4: 43,681,982 (GRCm39) |
R452S |
probably benign |
Het |
Tnfsf13b |
A |
G |
8: 10,056,966 (GRCm39) |
I42V |
probably benign |
Het |
Trpc2 |
A |
G |
7: 101,745,090 (GRCm39) |
T769A |
possibly damaging |
Het |
Ttc3 |
A |
G |
16: 94,236,389 (GRCm39) |
T1033A |
probably benign |
Het |
Ttll13 |
C |
T |
7: 79,906,751 (GRCm39) |
A473V |
probably damaging |
Het |
U2surp |
G |
A |
9: 95,346,468 (GRCm39) |
R908* |
probably null |
Het |
Ube2s |
A |
G |
7: 4,814,510 (GRCm39) |
Y17H |
probably damaging |
Het |
Vmn1r94 |
A |
T |
7: 19,901,509 (GRCm39) |
M265K |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,719,038 (GRCm39) |
I797T |
possibly damaging |
Het |
Yipf3 |
A |
T |
17: 46,559,895 (GRCm39) |
E70D |
probably benign |
Het |
Zcchc14 |
G |
A |
8: 122,331,969 (GRCm39) |
P465S |
unknown |
Het |
Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
Zfp707 |
T |
C |
15: 75,845,468 (GRCm39) |
S111P |
|
Het |
Zfp738 |
T |
C |
13: 67,819,457 (GRCm39) |
E178G |
possibly damaging |
Het |
Zfr |
A |
T |
15: 12,136,757 (GRCm39) |
N138I |
unknown |
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 |
R1911:Srcap
|
UTSW |
7 |
127,133,994 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
127,139,484 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8066:Srcap
|
UTSW |
7 |
127,120,804 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTCTGGGATGGCAAAACGAG -3'
(R):5'- TTGTGACAAGCCCCATTTCC -3'
Sequencing Primer
(F):5'- AAAACGAGGCCGCTTGC -3'
(R):5'- TACCCCCTACTTTGGTGGAAAGG -3'
|
Posted On |
2022-01-20 |