Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
C |
2: 68,423,934 (GRCm39) |
M46L |
|
Het |
Aars2 |
A |
G |
17: 45,827,410 (GRCm39) |
E484G |
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,075,825 (GRCm39) |
|
probably benign |
Het |
Acap2 |
A |
G |
16: 30,929,901 (GRCm39) |
S361P |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,887,900 (GRCm39) |
E482G |
probably benign |
Het |
Axin2 |
G |
T |
11: 108,833,782 (GRCm39) |
L576F |
possibly damaging |
Het |
B4galt2 |
T |
A |
4: 117,738,123 (GRCm39) |
Y161F |
probably damaging |
Het |
Cdh3 |
A |
T |
8: 107,266,425 (GRCm39) |
|
probably null |
Het |
Cfap61 |
A |
T |
2: 145,971,149 (GRCm39) |
I920F |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,681,394 (GRCm39) |
I4T |
probably benign |
Het |
Clptm1 |
T |
C |
7: 19,371,449 (GRCm39) |
N328S |
probably benign |
Het |
Cthrc1 |
A |
G |
15: 38,947,689 (GRCm39) |
N136S |
probably benign |
Het |
Dlec1 |
G |
T |
9: 118,971,652 (GRCm39) |
R1279L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,366,293 (GRCm39) |
T2669S |
possibly damaging |
Het |
Efcab14 |
C |
A |
4: 115,610,208 (GRCm39) |
L190I |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,769,076 (GRCm39) |
C690S |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,751,483 (GRCm39) |
E524G |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,238 (GRCm39) |
V243A |
probably benign |
Het |
Ghr |
A |
G |
15: 3,357,506 (GRCm39) |
V254A |
probably benign |
Het |
Igkv8-28 |
A |
G |
6: 70,120,691 (GRCm39) |
V84A |
probably damaging |
Het |
Itgb7 |
T |
C |
15: 102,131,989 (GRCm39) |
D198G |
probably damaging |
Het |
Klra2 |
A |
G |
6: 131,197,070 (GRCm39) |
|
probably null |
Het |
Klrc2 |
A |
T |
6: 129,633,363 (GRCm39) |
Y230N |
probably damaging |
Het |
Lacc1 |
A |
G |
14: 77,267,024 (GRCm39) |
V413A |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,508,331 (GRCm39) |
N6355S |
probably benign |
Het |
Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
CTG |
CTGGTG |
11: 62,324,448 (GRCm39) |
|
probably benign |
Het |
Ndn |
A |
G |
7: 61,998,903 (GRCm39) |
K250E |
possibly damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nt5e |
A |
G |
9: 88,249,416 (GRCm39) |
E450G |
probably benign |
Het |
Or4d6 |
A |
T |
19: 12,086,313 (GRCm39) |
M199K |
possibly damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,790 (GRCm39) |
*176K |
probably null |
Het |
Or8k16 |
G |
T |
2: 85,520,626 (GRCm39) |
M284I |
|
Het |
Palld |
A |
G |
8: 61,968,264 (GRCm39) |
S1343P |
unknown |
Het |
Pcdha8 |
T |
A |
18: 37,126,843 (GRCm39) |
S442T |
possibly damaging |
Het |
Pole2 |
T |
C |
12: 69,255,719 (GRCm39) |
I349V |
probably benign |
Het |
Ptprb |
C |
T |
10: 116,158,390 (GRCm39) |
T487M |
probably benign |
Het |
Ptprc |
C |
T |
1: 137,993,960 (GRCm39) |
D1020N |
probably damaging |
Het |
Relch |
C |
T |
1: 105,669,039 (GRCm39) |
T1023I |
probably damaging |
Het |
Rnf26rt |
C |
T |
6: 76,473,615 (GRCm39) |
E334K |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,571,490 (GRCm39) |
N4916S |
possibly damaging |
Het |
Selp |
C |
T |
1: 163,957,674 (GRCm39) |
P268S |
probably damaging |
Het |
Sema7a |
T |
A |
9: 57,864,608 (GRCm39) |
C333S |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
CAGCCACGGGGACCAGCT |
CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT |
7: 126,066,754 (GRCm39) |
|
probably null |
Het |
Shisa5 |
G |
A |
9: 108,867,712 (GRCm39) |
|
probably benign |
Het |
Snx27 |
A |
G |
3: 94,489,723 (GRCm39) |
V45A |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,139,531 (GRCm39) |
V1284A |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,872,610 (GRCm39) |
D416G |
probably damaging |
Het |
Tcstv1b |
C |
T |
13: 120,634,061 (GRCm39) |
|
probably benign |
Het |
Tectb |
A |
G |
19: 55,181,093 (GRCm39) |
Y144C |
|
Het |
Thap12 |
G |
T |
7: 98,359,348 (GRCm39) |
V76F |
probably damaging |
Het |
Ticam2 |
G |
C |
18: 46,693,748 (GRCm39) |
P113R |
probably damaging |
Het |
Tsg101 |
A |
G |
7: 46,558,772 (GRCm39) |
Y80H |
probably benign |
Het |
Unc5cl |
T |
A |
17: 48,770,656 (GRCm39) |
M368K |
probably damaging |
Het |
Utp20 |
G |
T |
10: 88,640,390 (GRCm39) |
Q717K |
possibly damaging |
Het |
Vmn1r159 |
T |
A |
7: 22,542,141 (GRCm39) |
D297V |
possibly damaging |
Het |
Vmn2r98 |
G |
T |
17: 19,287,517 (GRCm39) |
S450I |
probably benign |
Het |
Zbtb8b |
T |
C |
4: 129,326,319 (GRCm39) |
E282G |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,789 (GRCm39) |
V488A |
probably benign |
Het |
Zng1 |
T |
A |
19: 24,930,684 (GRCm39) |
M122L |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,807,251 (GRCm39) |
V2710I |
probably damaging |
Het |
|
Other mutations in Shank1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Shank1
|
APN |
7 |
44,003,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01293:Shank1
|
APN |
7 |
44,003,660 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01319:Shank1
|
APN |
7 |
44,002,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01347:Shank1
|
APN |
7 |
43,991,544 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
44,001,023 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
43,991,889 (GRCm39) |
missense |
unknown |
|
IGL01964:Shank1
|
APN |
7 |
43,975,102 (GRCm39) |
missense |
unknown |
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
IGL02325:Shank1
|
APN |
7 |
43,976,504 (GRCm39) |
nonsense |
probably null |
|
IGL02387:Shank1
|
APN |
7 |
44,006,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02958:Shank1
|
APN |
7 |
44,003,897 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0197:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R0326:Shank1
|
UTSW |
7 |
43,968,594 (GRCm39) |
missense |
unknown |
|
R0365:Shank1
|
UTSW |
7 |
44,003,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0883:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R1033:Shank1
|
UTSW |
7 |
44,006,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1390:Shank1
|
UTSW |
7 |
44,006,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Shank1
|
UTSW |
7 |
43,965,499 (GRCm39) |
missense |
unknown |
|
R1594:Shank1
|
UTSW |
7 |
43,976,647 (GRCm39) |
nonsense |
probably null |
|
R1713:Shank1
|
UTSW |
7 |
43,969,161 (GRCm39) |
missense |
unknown |
|
R1783:Shank1
|
UTSW |
7 |
44,002,161 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1869:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1870:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1959:Shank1
|
UTSW |
7 |
43,974,801 (GRCm39) |
missense |
unknown |
|
R1962:Shank1
|
UTSW |
7 |
43,993,747 (GRCm39) |
critical splice donor site |
probably null |
|
R2406:Shank1
|
UTSW |
7 |
44,006,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2509:Shank1
|
UTSW |
7 |
44,001,547 (GRCm39) |
missense |
unknown |
|
R2509:Shank1
|
UTSW |
7 |
44,001,148 (GRCm39) |
missense |
unknown |
|
R3877:Shank1
|
UTSW |
7 |
43,994,416 (GRCm39) |
missense |
unknown |
|
R4041:Shank1
|
UTSW |
7 |
43,991,586 (GRCm39) |
missense |
unknown |
|
R4249:Shank1
|
UTSW |
7 |
43,969,160 (GRCm39) |
missense |
unknown |
|
R4303:Shank1
|
UTSW |
7 |
43,991,898 (GRCm39) |
missense |
unknown |
|
R4431:Shank1
|
UTSW |
7 |
43,969,076 (GRCm39) |
nonsense |
probably null |
|
R4525:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4527:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4642:Shank1
|
UTSW |
7 |
43,962,565 (GRCm39) |
missense |
unknown |
|
R4722:Shank1
|
UTSW |
7 |
43,962,638 (GRCm39) |
nonsense |
probably null |
|
R4805:Shank1
|
UTSW |
7 |
43,993,135 (GRCm39) |
missense |
unknown |
|
R4874:Shank1
|
UTSW |
7 |
43,965,497 (GRCm39) |
missense |
unknown |
|
R4904:Shank1
|
UTSW |
7 |
43,983,464 (GRCm39) |
intron |
probably benign |
|
R4939:Shank1
|
UTSW |
7 |
43,975,586 (GRCm39) |
missense |
unknown |
|
R5394:Shank1
|
UTSW |
7 |
44,002,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5410:Shank1
|
UTSW |
7 |
44,001,246 (GRCm39) |
missense |
unknown |
|
R5556:Shank1
|
UTSW |
7 |
43,993,739 (GRCm39) |
intron |
probably benign |
|
R5620:Shank1
|
UTSW |
7 |
43,962,160 (GRCm39) |
missense |
unknown |
|
R5656:Shank1
|
UTSW |
7 |
44,002,310 (GRCm39) |
missense |
probably benign |
0.33 |
R5688:Shank1
|
UTSW |
7 |
44,003,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5740:Shank1
|
UTSW |
7 |
44,003,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5801:Shank1
|
UTSW |
7 |
44,006,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6179:Shank1
|
UTSW |
7 |
44,006,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6186:Shank1
|
UTSW |
7 |
44,001,990 (GRCm39) |
missense |
probably benign |
0.18 |
R6245:Shank1
|
UTSW |
7 |
44,001,677 (GRCm39) |
missense |
unknown |
|
R6500:Shank1
|
UTSW |
7 |
43,976,645 (GRCm39) |
missense |
unknown |
|
R6602:Shank1
|
UTSW |
7 |
44,001,760 (GRCm39) |
missense |
probably benign |
0.03 |
R6655:Shank1
|
UTSW |
7 |
43,976,644 (GRCm39) |
missense |
unknown |
|
R6709:Shank1
|
UTSW |
7 |
44,003,600 (GRCm39) |
missense |
probably benign |
0.43 |
R6734:Shank1
|
UTSW |
7 |
44,003,110 (GRCm39) |
missense |
probably benign |
0.01 |
R6881:Shank1
|
UTSW |
7 |
44,001,217 (GRCm39) |
missense |
unknown |
|
R6902:Shank1
|
UTSW |
7 |
44,006,239 (GRCm39) |
missense |
probably benign |
0.39 |
R6975:Shank1
|
UTSW |
7 |
43,962,530 (GRCm39) |
splice site |
probably null |
|
R6985:Shank1
|
UTSW |
7 |
43,994,337 (GRCm39) |
missense |
unknown |
|
R7072:Shank1
|
UTSW |
7 |
43,994,370 (GRCm39) |
missense |
unknown |
|
R7116:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7117:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7199:Shank1
|
UTSW |
7 |
44,002,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7249:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7252:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7552:Shank1
|
UTSW |
7 |
44,002,452 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Shank1
|
UTSW |
7 |
43,969,093 (GRCm39) |
missense |
unknown |
|
R7707:Shank1
|
UTSW |
7 |
43,993,725 (GRCm39) |
missense |
unknown |
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (GRCm39) |
missense |
unknown |
|
R7804:Shank1
|
UTSW |
7 |
43,962,308 (GRCm39) |
missense |
unknown |
|
R8122:Shank1
|
UTSW |
7 |
43,983,015 (GRCm39) |
missense |
unknown |
|
R8178:Shank1
|
UTSW |
7 |
43,962,748 (GRCm39) |
critical splice donor site |
probably null |
|
R8339:Shank1
|
UTSW |
7 |
43,975,589 (GRCm39) |
missense |
unknown |
|
R8463:Shank1
|
UTSW |
7 |
44,003,605 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9005:Shank1
|
UTSW |
7 |
44,002,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9023:Shank1
|
UTSW |
7 |
43,968,531 (GRCm39) |
missense |
unknown |
|
R9225:Shank1
|
UTSW |
7 |
43,983,470 (GRCm39) |
missense |
unknown |
|
R9234:Shank1
|
UTSW |
7 |
43,962,579 (GRCm39) |
missense |
unknown |
|
R9369:Shank1
|
UTSW |
7 |
44,001,478 (GRCm39) |
missense |
unknown |
|
R9432:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9433:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9434:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9474:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9475:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9476:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9477:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9519:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9544:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9545:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9598:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9633:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9698:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9699:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9701:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9755:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9783:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9784:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9800:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9802:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9803:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
X0019:Shank1
|
UTSW |
7 |
44,006,352 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Shank1
|
UTSW |
7 |
44,001,353 (GRCm39) |
missense |
unknown |
|
Z1088:Shank1
|
UTSW |
7 |
44,001,590 (GRCm39) |
missense |
unknown |
|
Z1177:Shank1
|
UTSW |
7 |
43,975,068 (GRCm39) |
missense |
unknown |
|
|