Incidental Mutation 'R5068:Ankrd17'
ID |
388428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
042658-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5068 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90375025-90514436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90402667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1464
(R1464G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
[ENSMUST00000218526]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014421
AA Change: R1465G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: R1465G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1611 |
N/A |
INTRINSIC |
low complexity region
|
1616 |
1636 |
N/A |
INTRINSIC |
KH
|
1720 |
1790 |
8.31e-14 |
SMART |
low complexity region
|
1816 |
1827 |
N/A |
INTRINSIC |
low complexity region
|
1834 |
1850 |
N/A |
INTRINSIC |
low complexity region
|
1946 |
1989 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2024 |
N/A |
INTRINSIC |
low complexity region
|
2035 |
2052 |
N/A |
INTRINSIC |
low complexity region
|
2068 |
2077 |
N/A |
INTRINSIC |
low complexity region
|
2086 |
2110 |
N/A |
INTRINSIC |
low complexity region
|
2175 |
2189 |
N/A |
INTRINSIC |
low complexity region
|
2348 |
2365 |
N/A |
INTRINSIC |
low complexity region
|
2392 |
2411 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081914
AA Change: R1214G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: R1214G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
ANK
|
827 |
856 |
2.13e-4 |
SMART |
ANK
|
860 |
889 |
8.19e-6 |
SMART |
ANK
|
894 |
923 |
1.68e-2 |
SMART |
ANK
|
927 |
956 |
1.61e-4 |
SMART |
ANK
|
962 |
991 |
1.43e-5 |
SMART |
ANK
|
996 |
1025 |
1.83e-3 |
SMART |
ANK
|
1029 |
1058 |
3.91e-3 |
SMART |
ANK
|
1064 |
1093 |
1.93e-2 |
SMART |
ANK
|
1097 |
1126 |
8.78e-6 |
SMART |
ANK
|
1130 |
1159 |
7.59e-1 |
SMART |
coiled coil region
|
1203 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1385 |
N/A |
INTRINSIC |
KH
|
1469 |
1539 |
8.31e-14 |
SMART |
low complexity region
|
1565 |
1576 |
N/A |
INTRINSIC |
low complexity region
|
1583 |
1599 |
N/A |
INTRINSIC |
low complexity region
|
1695 |
1738 |
N/A |
INTRINSIC |
low complexity region
|
1745 |
1773 |
N/A |
INTRINSIC |
low complexity region
|
1784 |
1801 |
N/A |
INTRINSIC |
low complexity region
|
1817 |
1826 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1859 |
N/A |
INTRINSIC |
low complexity region
|
1924 |
1938 |
N/A |
INTRINSIC |
low complexity region
|
2097 |
2114 |
N/A |
INTRINSIC |
low complexity region
|
2141 |
2160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168058
AA Change: R1464G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128960 Gene: ENSMUSG00000055204 AA Change: R1464G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197021
AA Change: R1356G
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: R1356G
Domain | Start | End | E-Value | Type |
ANK
|
120 |
149 |
5.4e-1 |
SMART |
ANK
|
153 |
182 |
2e-3 |
SMART |
ANK
|
187 |
216 |
2.2e-7 |
SMART |
ANK
|
220 |
249 |
8.2e-8 |
SMART |
ANK
|
253 |
282 |
2.2e-6 |
SMART |
ANK
|
287 |
316 |
2.1e-6 |
SMART |
ANK
|
320 |
349 |
9.9e-7 |
SMART |
ANK
|
353 |
382 |
9.5e-5 |
SMART |
ANK
|
386 |
415 |
2.4e-9 |
SMART |
ANK
|
420 |
449 |
2.6e-5 |
SMART |
ANK
|
450 |
479 |
1.1e-7 |
SMART |
ANK
|
483 |
512 |
2.2e-7 |
SMART |
ANK
|
516 |
545 |
3.5e-6 |
SMART |
ANK
|
550 |
579 |
7.9e-6 |
SMART |
ANK
|
583 |
612 |
8.9e-4 |
SMART |
coiled coil region
|
691 |
774 |
N/A |
INTRINSIC |
low complexity region
|
781 |
794 |
N/A |
INTRINSIC |
low complexity region
|
846 |
859 |
N/A |
INTRINSIC |
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
low complexity region
|
937 |
951 |
N/A |
INTRINSIC |
ANK
|
969 |
998 |
1.4e-6 |
SMART |
ANK
|
1002 |
1031 |
5.3e-8 |
SMART |
ANK
|
1036 |
1065 |
1e-4 |
SMART |
ANK
|
1069 |
1098 |
1e-6 |
SMART |
ANK
|
1104 |
1133 |
9.1e-8 |
SMART |
ANK
|
1138 |
1167 |
1.2e-5 |
SMART |
ANK
|
1171 |
1200 |
2.5e-5 |
SMART |
ANK
|
1206 |
1235 |
1.2e-4 |
SMART |
ANK
|
1239 |
1268 |
5.5e-8 |
SMART |
ANK
|
1272 |
1301 |
4.7e-3 |
SMART |
coiled coil region
|
1345 |
1413 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
low complexity region
|
1507 |
1527 |
N/A |
INTRINSIC |
KH
|
1611 |
1681 |
5.1e-16 |
SMART |
low complexity region
|
1707 |
1718 |
N/A |
INTRINSIC |
low complexity region
|
1725 |
1741 |
N/A |
INTRINSIC |
low complexity region
|
1837 |
1880 |
N/A |
INTRINSIC |
low complexity region
|
1887 |
1915 |
N/A |
INTRINSIC |
low complexity region
|
1926 |
1943 |
N/A |
INTRINSIC |
low complexity region
|
1959 |
1968 |
N/A |
INTRINSIC |
low complexity region
|
1977 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2066 |
2080 |
N/A |
INTRINSIC |
low complexity region
|
2239 |
2256 |
N/A |
INTRINSIC |
low complexity region
|
2283 |
2302 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200012
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218526
AA Change: R1465G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity, and growth retardation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(133) : Targeted(4) Gene trapped(129)
|
Other mutations in this stock |
Total: 110 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,383,749 (GRCm39) |
S739P |
possibly damaging |
Het |
6030468B19Rik |
A |
G |
11: 117,693,701 (GRCm39) |
Y56C |
possibly damaging |
Het |
Actn2 |
A |
G |
13: 12,303,408 (GRCm39) |
I464T |
possibly damaging |
Het |
Add2 |
T |
A |
6: 86,084,440 (GRCm39) |
L496Q |
probably damaging |
Het |
Akt1s1 |
T |
C |
7: 44,499,432 (GRCm39) |
|
probably null |
Het |
Als2 |
G |
T |
1: 59,250,433 (GRCm39) |
P437Q |
probably benign |
Het |
Ankar |
T |
C |
1: 72,719,369 (GRCm39) |
|
probably null |
Het |
Ankrd24 |
T |
C |
10: 81,475,699 (GRCm39) |
S121P |
possibly damaging |
Het |
Arvcf |
A |
G |
16: 18,217,736 (GRCm39) |
Y412C |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
Bnip3l |
T |
C |
14: 67,237,081 (GRCm39) |
E57G |
possibly damaging |
Het |
Calcoco1 |
A |
G |
15: 102,619,527 (GRCm39) |
L354P |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,480,661 (GRCm39) |
V27A |
possibly damaging |
Het |
Cdc37 |
T |
C |
9: 21,061,099 (GRCm39) |
T19A |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,413,736 (GRCm39) |
I1199V |
probably benign |
Het |
Chd6 |
G |
T |
2: 160,808,289 (GRCm39) |
L1642I |
possibly damaging |
Het |
Chst13 |
T |
C |
6: 90,286,551 (GRCm39) |
E137G |
possibly damaging |
Het |
Cnrip1 |
A |
G |
11: 17,004,687 (GRCm39) |
D79G |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,869,483 (GRCm39) |
C589S |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,327,409 (GRCm39) |
I102L |
possibly damaging |
Het |
Dip2a |
A |
G |
10: 76,153,877 (GRCm39) |
L151P |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,405,184 (GRCm39) |
T202A |
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,503,113 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
T |
C |
2: 156,549,031 (GRCm39) |
F464L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,632,013 (GRCm39) |
H1314R |
probably benign |
Het |
Dsp |
A |
C |
13: 38,381,099 (GRCm39) |
T2615P |
possibly damaging |
Het |
Dthd1 |
C |
A |
5: 62,976,059 (GRCm39) |
D244E |
probably benign |
Het |
Dtl |
A |
T |
1: 191,300,485 (GRCm39) |
D126E |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,911,737 (GRCm39) |
N341S |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,727,450 (GRCm39) |
Y513C |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,083,061 (GRCm39) |
|
probably null |
Het |
Erc2 |
A |
T |
14: 28,024,900 (GRCm39) |
H593L |
possibly damaging |
Het |
Ercc6 |
T |
C |
14: 32,292,020 (GRCm39) |
V1128A |
probably benign |
Het |
Fyn |
A |
G |
10: 39,402,839 (GRCm39) |
K204E |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,465,953 (GRCm39) |
F212Y |
possibly damaging |
Het |
Gpc5 |
T |
C |
14: 115,654,676 (GRCm39) |
*499R |
probably null |
Het |
Hcn4 |
T |
C |
9: 58,767,304 (GRCm39) |
L955P |
unknown |
Het |
Hook2 |
C |
A |
8: 85,720,028 (GRCm39) |
L111I |
possibly damaging |
Het |
Hook3 |
C |
T |
8: 26,585,785 (GRCm39) |
|
probably null |
Het |
Hvcn1 |
T |
C |
5: 122,371,544 (GRCm39) |
F28S |
probably damaging |
Het |
Igkv6-32 |
A |
G |
6: 70,051,267 (GRCm39) |
F30L |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,636,442 (GRCm39) |
|
probably null |
Het |
Itgb2 |
G |
A |
10: 77,384,595 (GRCm39) |
A239T |
probably damaging |
Het |
Kcnrg |
T |
C |
14: 61,845,266 (GRCm39) |
L102P |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,553,627 (GRCm39) |
M1068K |
probably benign |
Het |
Kifc3 |
T |
C |
8: 95,836,844 (GRCm39) |
R109G |
possibly damaging |
Het |
Klhl28 |
A |
T |
12: 65,004,486 (GRCm39) |
M9K |
probably benign |
Het |
Kptn |
T |
C |
7: 15,857,027 (GRCm39) |
Y172H |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,793,002 (GRCm39) |
E646G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,676,570 (GRCm39) |
Y372N |
probably damaging |
Het |
Mrc1 |
T |
A |
2: 14,311,327 (GRCm39) |
M868K |
probably benign |
Het |
Mterf1a |
T |
C |
5: 3,941,854 (GRCm39) |
N5D |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,412,345 (GRCm39) |
S1764P |
unknown |
Het |
Myo9b |
T |
C |
8: 71,801,699 (GRCm39) |
Y1275H |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,469,330 (GRCm39) |
I129T |
probably damaging |
Het |
Net1 |
G |
A |
13: 3,936,740 (GRCm39) |
A221V |
probably benign |
Het |
Nuak2 |
A |
T |
1: 132,259,509 (GRCm39) |
D429V |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,794,862 (GRCm39) |
T882A |
probably benign |
Het |
Or11g2 |
T |
A |
14: 50,856,197 (GRCm39) |
C173S |
probably damaging |
Het |
Or11h4 |
C |
A |
14: 50,974,531 (GRCm39) |
L29F |
probably benign |
Het |
Or52ab4 |
A |
T |
7: 102,987,229 (GRCm39) |
|
probably null |
Het |
Or52h1 |
T |
A |
7: 103,829,448 (GRCm39) |
S56C |
probably damaging |
Het |
Or8b42 |
T |
C |
9: 38,341,760 (GRCm39) |
Y61H |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,879,508 (GRCm39) |
V1021A |
probably damaging |
Het |
Pclo |
G |
C |
5: 14,729,087 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
C |
5: 65,772,615 (GRCm39) |
D1329E |
probably damaging |
Het |
Pex5 |
A |
G |
6: 124,390,555 (GRCm39) |
S97P |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,611,171 (GRCm39) |
K431E |
probably damaging |
Het |
Piwil1 |
T |
C |
5: 128,818,678 (GRCm39) |
S158P |
probably damaging |
Het |
Plxnc1 |
A |
T |
10: 94,635,239 (GRCm39) |
I1329N |
possibly damaging |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Pnpla1 |
T |
A |
17: 29,098,397 (GRCm39) |
|
probably null |
Het |
Prdm10 |
T |
C |
9: 31,270,343 (GRCm39) |
Y827H |
probably damaging |
Het |
Prss3b |
A |
C |
6: 41,009,370 (GRCm39) |
Y155D |
probably benign |
Het |
Psma2 |
G |
A |
13: 14,790,613 (GRCm39) |
V20I |
probably benign |
Het |
Pwwp4a |
T |
C |
X: 72,171,577 (GRCm39) |
I323T |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,899,340 (GRCm39) |
|
probably null |
Het |
Rnf17 |
T |
C |
14: 56,743,385 (GRCm39) |
V1317A |
probably damaging |
Het |
Rpp40 |
T |
C |
13: 36,082,681 (GRCm39) |
N254D |
probably benign |
Het |
Scin |
T |
A |
12: 40,174,699 (GRCm39) |
H128L |
probably damaging |
Het |
Sh3bp2 |
A |
T |
5: 34,714,311 (GRCm39) |
M225L |
probably benign |
Het |
Shisa9 |
C |
A |
16: 12,085,412 (GRCm39) |
H324Q |
possibly damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,484,601 (GRCm39) |
D1585G |
probably damaging |
Het |
Slc11a1 |
G |
A |
1: 74,424,343 (GRCm39) |
A434T |
probably damaging |
Het |
Slc5a8 |
A |
T |
10: 88,722,460 (GRCm39) |
I98F |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,310,301 (GRCm39) |
L320P |
probably damaging |
Het |
Spats2l |
A |
G |
1: 57,982,380 (GRCm39) |
T421A |
probably benign |
Het |
Spryd3 |
A |
T |
15: 102,037,046 (GRCm39) |
D207E |
probably benign |
Het |
Srrt |
T |
C |
5: 137,294,803 (GRCm39) |
N392S |
possibly damaging |
Het |
Stk36 |
G |
T |
1: 74,661,504 (GRCm39) |
R510S |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,288 (GRCm39) |
Y272C |
probably damaging |
Het |
Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,893,986 (GRCm39) |
I139T |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,987,079 (GRCm39) |
Y237F |
probably benign |
Het |
Trim35 |
C |
T |
14: 66,546,421 (GRCm39) |
|
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,655,750 (GRCm39) |
I661T |
probably benign |
Het |
Ttc27 |
T |
A |
17: 75,106,337 (GRCm39) |
H541Q |
probably damaging |
Het |
Uap1 |
G |
T |
1: 169,989,032 (GRCm39) |
P130Q |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,806,352 (GRCm39) |
|
probably null |
Het |
Umad1 |
A |
T |
6: 8,401,157 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
C |
11: 23,410,665 (GRCm39) |
V2705A |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,723,422 (GRCm39) |
S259G |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,243,166 (GRCm39) |
V615I |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,042,803 (GRCm39) |
T1983A |
probably benign |
Het |
Wdr24 |
T |
G |
17: 26,044,753 (GRCm39) |
F203V |
possibly damaging |
Het |
Xlr4c |
T |
A |
X: 72,282,290 (GRCm39) |
K121M |
probably damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,254,688 (GRCm39) |
C1427* |
probably null |
Het |
Zfp282 |
A |
C |
6: 47,854,637 (GRCm39) |
Q11P |
probably benign |
Het |
Zfp750 |
T |
A |
11: 121,403,021 (GRCm39) |
T576S |
probably benign |
Het |
|
Other mutations in Ankrd17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Ankrd17
|
APN |
5 |
90,381,787 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00484:Ankrd17
|
APN |
5 |
90,416,220 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01320:Ankrd17
|
APN |
5 |
90,407,988 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01776:Ankrd17
|
APN |
5 |
90,431,223 (GRCm39) |
nonsense |
probably null |
|
IGL02093:Ankrd17
|
APN |
5 |
90,390,822 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02292:Ankrd17
|
APN |
5 |
90,400,718 (GRCm39) |
unclassified |
probably benign |
|
IGL02302:Ankrd17
|
APN |
5 |
90,431,057 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02472:Ankrd17
|
APN |
5 |
90,412,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Ankrd17
|
APN |
5 |
90,430,974 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02727:Ankrd17
|
APN |
5 |
90,392,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02884:Ankrd17
|
APN |
5 |
90,412,616 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Ankrd17
|
UTSW |
5 |
90,391,013 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT1430001:Ankrd17
|
UTSW |
5 |
90,400,832 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0025:Ankrd17
|
UTSW |
5 |
90,398,264 (GRCm39) |
missense |
probably damaging |
0.99 |
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0271:Ankrd17
|
UTSW |
5 |
90,402,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0684:Ankrd17
|
UTSW |
5 |
90,411,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R1239:Ankrd17
|
UTSW |
5 |
90,436,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R1457:Ankrd17
|
UTSW |
5 |
90,433,705 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1505:Ankrd17
|
UTSW |
5 |
90,447,885 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1766:Ankrd17
|
UTSW |
5 |
90,412,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1770:Ankrd17
|
UTSW |
5 |
90,391,235 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1780:Ankrd17
|
UTSW |
5 |
90,380,274 (GRCm39) |
missense |
probably damaging |
0.96 |
R1916:Ankrd17
|
UTSW |
5 |
90,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Ankrd17
|
UTSW |
5 |
90,392,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Ankrd17
|
UTSW |
5 |
90,445,905 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2153:Ankrd17
|
UTSW |
5 |
90,381,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R2279:Ankrd17
|
UTSW |
5 |
90,412,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Ankrd17
|
UTSW |
5 |
90,437,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3012:Ankrd17
|
UTSW |
5 |
90,378,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R3417:Ankrd17
|
UTSW |
5 |
90,391,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3704:Ankrd17
|
UTSW |
5 |
90,391,828 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4581:Ankrd17
|
UTSW |
5 |
90,430,979 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4850:Ankrd17
|
UTSW |
5 |
90,412,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Ankrd17
|
UTSW |
5 |
90,447,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Ankrd17
|
UTSW |
5 |
90,430,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5109:Ankrd17
|
UTSW |
5 |
90,391,395 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5111:Ankrd17
|
UTSW |
5 |
90,390,858 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5214:Ankrd17
|
UTSW |
5 |
90,431,319 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5362:Ankrd17
|
UTSW |
5 |
90,413,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Ankrd17
|
UTSW |
5 |
90,391,083 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Ankrd17
|
UTSW |
5 |
90,431,295 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5874:Ankrd17
|
UTSW |
5 |
90,416,656 (GRCm39) |
intron |
probably benign |
|
R5932:Ankrd17
|
UTSW |
5 |
90,413,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Ankrd17
|
UTSW |
5 |
90,433,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Ankrd17
|
UTSW |
5 |
90,487,531 (GRCm39) |
intron |
probably benign |
|
R6052:Ankrd17
|
UTSW |
5 |
90,401,691 (GRCm39) |
missense |
probably benign |
0.03 |
R6088:Ankrd17
|
UTSW |
5 |
90,401,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6306:Ankrd17
|
UTSW |
5 |
90,392,013 (GRCm39) |
missense |
probably benign |
0.03 |
R6418:Ankrd17
|
UTSW |
5 |
90,426,204 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6663:Ankrd17
|
UTSW |
5 |
90,411,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6758:Ankrd17
|
UTSW |
5 |
90,411,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ankrd17
|
UTSW |
5 |
90,402,597 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6793:Ankrd17
|
UTSW |
5 |
90,413,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Ankrd17
|
UTSW |
5 |
90,433,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7008:Ankrd17
|
UTSW |
5 |
90,407,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7051:Ankrd17
|
UTSW |
5 |
90,514,310 (GRCm39) |
unclassified |
probably benign |
|
R7077:Ankrd17
|
UTSW |
5 |
90,433,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7134:Ankrd17
|
UTSW |
5 |
90,433,382 (GRCm39) |
missense |
probably benign |
0.03 |
R7134:Ankrd17
|
UTSW |
5 |
90,380,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7138:Ankrd17
|
UTSW |
5 |
90,390,836 (GRCm39) |
missense |
probably benign |
0.38 |
R7143:Ankrd17
|
UTSW |
5 |
90,433,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7173:Ankrd17
|
UTSW |
5 |
90,407,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7176:Ankrd17
|
UTSW |
5 |
90,416,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Ankrd17
|
UTSW |
5 |
90,439,010 (GRCm39) |
missense |
possibly damaging |
0.45 |
R7390:Ankrd17
|
UTSW |
5 |
90,430,779 (GRCm39) |
missense |
probably benign |
0.13 |
R7430:Ankrd17
|
UTSW |
5 |
90,443,516 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7468:Ankrd17
|
UTSW |
5 |
90,390,902 (GRCm39) |
missense |
probably benign |
|
R7483:Ankrd17
|
UTSW |
5 |
90,447,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Ankrd17
|
UTSW |
5 |
90,381,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7610:Ankrd17
|
UTSW |
5 |
90,380,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7636:Ankrd17
|
UTSW |
5 |
90,380,239 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7790:Ankrd17
|
UTSW |
5 |
90,408,011 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7839:Ankrd17
|
UTSW |
5 |
90,411,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R7853:Ankrd17
|
UTSW |
5 |
90,386,825 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7976:Ankrd17
|
UTSW |
5 |
90,431,451 (GRCm39) |
nonsense |
probably null |
|
R8054:Ankrd17
|
UTSW |
5 |
90,438,914 (GRCm39) |
missense |
probably benign |
0.43 |
R8230:Ankrd17
|
UTSW |
5 |
90,391,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8274:Ankrd17
|
UTSW |
5 |
90,430,718 (GRCm39) |
missense |
probably benign |
0.15 |
R8365:Ankrd17
|
UTSW |
5 |
90,398,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8532:Ankrd17
|
UTSW |
5 |
90,412,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Ankrd17
|
UTSW |
5 |
90,443,452 (GRCm39) |
missense |
probably benign |
|
R8812:Ankrd17
|
UTSW |
5 |
90,441,062 (GRCm39) |
missense |
probably benign |
0.09 |
R8933:Ankrd17
|
UTSW |
5 |
90,406,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R9051:Ankrd17
|
UTSW |
5 |
90,411,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R9055:Ankrd17
|
UTSW |
5 |
90,380,168 (GRCm39) |
missense |
probably benign |
0.33 |
R9136:Ankrd17
|
UTSW |
5 |
90,392,278 (GRCm39) |
missense |
probably damaging |
0.96 |
R9158:Ankrd17
|
UTSW |
5 |
90,416,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Ankrd17
|
UTSW |
5 |
90,378,798 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9315:Ankrd17
|
UTSW |
5 |
90,398,360 (GRCm39) |
missense |
probably damaging |
0.97 |
R9364:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,391,986 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9369:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Ankrd17
|
UTSW |
5 |
90,401,536 (GRCm39) |
missense |
|
|
X0019:Ankrd17
|
UTSW |
5 |
90,446,513 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ankrd17
|
UTSW |
5 |
90,437,184 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Ankrd17
|
UTSW |
5 |
90,431,364 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCATGCTCAGCTGGAAAAG -3'
(R):5'- CTTATTCTTCGGCCCAGAGTGG -3'
Sequencing Primer
(F):5'- TGCTCAGCTGGAAAAGAATACCTTC -3'
(R):5'- AGAGTGGAGATACTGCCCTACCTG -3'
|
Posted On |
2016-06-06 |