Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510002D24Rik |
A |
G |
16: 18,655,601 (GRCm39) |
E57G |
possibly damaging |
Het |
4932414N04Rik |
C |
A |
2: 68,518,648 (GRCm39) |
T159K |
unknown |
Het |
Adamts10 |
T |
A |
17: 33,763,979 (GRCm39) |
F616L |
possibly damaging |
Het |
Adtrp |
G |
A |
13: 41,981,791 (GRCm39) |
S26L |
unknown |
Het |
Alpk3 |
A |
C |
7: 80,728,310 (GRCm39) |
E480A |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,038,919 (GRCm39) |
T529A |
unknown |
Het |
Arl4d |
A |
G |
11: 101,557,486 (GRCm39) |
H4R |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,891,172 (GRCm39) |
H1017R |
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,375,102 (GRCm39) |
S517P |
possibly damaging |
Het |
Bcl11b |
C |
A |
12: 107,882,467 (GRCm39) |
R616L |
possibly damaging |
Het |
Bean1 |
G |
A |
8: 104,937,658 (GRCm39) |
G79D |
probably damaging |
Het |
Bicra |
C |
G |
7: 15,706,059 (GRCm39) |
G1461R |
probably benign |
Het |
Bptf |
T |
C |
11: 106,935,466 (GRCm39) |
T124A |
probably benign |
Het |
Btnl4 |
A |
T |
17: 34,691,348 (GRCm39) |
V312E |
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,670,997 (GRCm39) |
M503T |
unknown |
Het |
Celf5 |
T |
C |
10: 81,318,357 (GRCm39) |
E28G |
probably damaging |
Het |
Cilp2 |
G |
A |
8: 70,336,040 (GRCm39) |
L350F |
probably damaging |
Het |
Clec4a2 |
T |
C |
6: 123,119,411 (GRCm39) |
I245T |
probably damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,844,544 (GRCm39) |
V140D |
probably damaging |
Het |
Dennd4a |
A |
C |
9: 64,759,852 (GRCm39) |
H319P |
probably damaging |
Het |
Dlgap3 |
G |
T |
4: 127,128,852 (GRCm39) |
L857F |
probably null |
Het |
Dnah6 |
T |
A |
6: 73,189,475 (GRCm39) |
T58S |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,557,923 (GRCm39) |
M2164L |
probably benign |
Het |
Dspp |
T |
A |
5: 104,323,476 (GRCm39) |
H206Q |
probably benign |
Het |
Dzip1l |
G |
A |
9: 99,541,727 (GRCm39) |
V443M |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 28,024,948 (GRCm39) |
H939R |
possibly damaging |
Het |
Fam149a |
G |
T |
8: 45,801,583 (GRCm39) |
H513N |
probably benign |
Het |
Fam171a2 |
T |
C |
11: 102,330,543 (GRCm39) |
T280A |
possibly damaging |
Het |
Fkbp5 |
A |
C |
17: 28,634,999 (GRCm39) |
V170G |
probably damaging |
Het |
Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
Fzd2 |
T |
C |
11: 102,495,955 (GRCm39) |
F133S |
probably damaging |
Het |
Galm |
A |
G |
17: 80,445,550 (GRCm39) |
N100S |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,303,920 (GRCm39) |
I5N |
possibly damaging |
Het |
Gga2 |
T |
C |
7: 121,601,369 (GRCm39) |
R245G |
probably benign |
Het |
Gm10053 |
A |
G |
19: 24,853,264 (GRCm39) |
T50A |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,831,945 (GRCm39) |
T69A |
probably benign |
Het |
Heatr5a |
T |
C |
12: 52,008,326 (GRCm39) |
S6G |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,439,355 (GRCm39) |
S5610P |
probably damaging |
Het |
Hmgb4 |
A |
G |
4: 128,154,199 (GRCm39) |
V123A |
probably damaging |
Het |
Itgal |
C |
A |
7: 126,926,936 (GRCm39) |
Q943K |
probably benign |
Het |
Jakmip1 |
C |
A |
5: 37,332,498 (GRCm39) |
D1059E |
probably damaging |
Het |
Jazf1 |
T |
C |
6: 52,870,929 (GRCm39) |
|
probably null |
Het |
Kat6a |
A |
G |
8: 23,425,788 (GRCm39) |
E1111G |
possibly damaging |
Het |
Kdm4b |
C |
A |
17: 56,696,639 (GRCm39) |
P452T |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,862,474 (GRCm39) |
Y210H |
probably damaging |
Het |
Krtap6-2 |
A |
T |
16: 89,216,800 (GRCm39) |
Y56N |
unknown |
Het |
Lig1 |
A |
T |
7: 13,022,647 (GRCm39) |
D158V |
probably damaging |
Het |
Lmo1 |
A |
T |
7: 108,739,873 (GRCm39) |
L94Q |
probably benign |
Het |
Lrrc30 |
A |
T |
17: 67,939,238 (GRCm39) |
L114H |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,194,700 (GRCm39) |
I1400V |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,570,961 (GRCm39) |
I87T |
probably damaging |
Het |
Mfrp |
G |
T |
9: 44,016,480 (GRCm39) |
V392F |
possibly damaging |
Het |
Mrgprg |
A |
G |
7: 143,318,872 (GRCm39) |
L80P |
probably damaging |
Het |
Ndufaf3 |
A |
T |
9: 108,444,125 (GRCm39) |
M1K |
probably null |
Het |
Nme7 |
T |
A |
1: 164,208,217 (GRCm39) |
L295* |
probably null |
Het |
Noct |
G |
T |
3: 51,157,151 (GRCm39) |
C163F |
probably damaging |
Het |
Or11h4b |
T |
A |
14: 50,918,281 (GRCm39) |
Q270L |
possibly damaging |
Het |
Or13a26 |
A |
T |
7: 140,284,547 (GRCm39) |
I128F |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,763 (GRCm39) |
I196F |
possibly damaging |
Het |
Or5ak22 |
T |
A |
2: 85,229,955 (GRCm39) |
K307N |
probably damaging |
Het |
Or6c203 |
T |
A |
10: 129,010,324 (GRCm39) |
T189S |
probably damaging |
Het |
Or8g2 |
A |
G |
9: 39,821,200 (GRCm39) |
I34V |
probably benign |
Het |
Patz1 |
C |
T |
11: 3,248,297 (GRCm39) |
|
probably benign |
Het |
Per3 |
A |
G |
4: 151,097,185 (GRCm39) |
L780P |
probably benign |
Het |
Pira1 |
T |
G |
7: 3,738,509 (GRCm39) |
E622D |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,748,441 (GRCm39) |
M256V |
possibly damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,729,532 (GRCm39) |
K395R |
probably benign |
Het |
Poc5 |
G |
T |
13: 96,537,340 (GRCm39) |
G242V |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,251,873 (GRCm39) |
S434P |
possibly damaging |
Het |
Prss42 |
A |
G |
9: 110,627,897 (GRCm39) |
N110S |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,274,822 (GRCm39) |
I241N |
possibly damaging |
Het |
Rbak |
A |
C |
5: 143,159,528 (GRCm39) |
Y508* |
probably null |
Het |
S1pr2 |
G |
T |
9: 20,878,845 (GRCm39) |
R328S |
possibly damaging |
Het |
Slc46a1 |
T |
A |
11: 78,357,337 (GRCm39) |
V130E |
probably damaging |
Het |
Smc4 |
A |
T |
3: 68,925,457 (GRCm39) |
H343L |
probably benign |
Het |
Tarbp1 |
C |
A |
8: 127,184,416 (GRCm39) |
R500L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,635,332 (GRCm39) |
S492P |
probably benign |
Het |
Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 43,993,819 (GRCm39) |
S235P |
probably benign |
Het |
Trbc2 |
G |
T |
6: 41,523,763 (GRCm39) |
R33M |
|
Het |
Trim3 |
C |
T |
7: 105,268,765 (GRCm39) |
R63Q |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,433,350 (GRCm39) |
V2128A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,556,162 (GRCm39) |
R30281H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,774,483 (GRCm39) |
Q2187L |
unknown |
Het |
Ttyh3 |
T |
C |
5: 140,615,180 (GRCm39) |
S403G |
possibly damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,288 (GRCm39) |
D322V |
probably benign |
Het |
Wdr38 |
C |
T |
2: 38,888,352 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,930,411 (GRCm39) |
S1543R |
probably benign |
Het |
Zbtb8b |
G |
A |
4: 129,326,562 (GRCm39) |
T201I |
possibly damaging |
Het |
|
Other mutations in Sap130 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Sap130
|
APN |
18 |
31,831,819 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01060:Sap130
|
APN |
18 |
31,848,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01668:Sap130
|
APN |
18 |
31,813,493 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01797:Sap130
|
APN |
18 |
31,831,721 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01872:Sap130
|
APN |
18 |
31,807,473 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02010:Sap130
|
APN |
18 |
31,782,655 (GRCm39) |
missense |
probably damaging |
0.98 |
Beggar
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
PIT4142001:Sap130
|
UTSW |
18 |
31,800,064 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4366001:Sap130
|
UTSW |
18 |
31,810,462 (GRCm39) |
missense |
probably benign |
0.06 |
R0083:Sap130
|
UTSW |
18 |
31,844,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Sap130
|
UTSW |
18 |
31,799,382 (GRCm39) |
splice site |
probably benign |
|
R0243:Sap130
|
UTSW |
18 |
31,813,734 (GRCm39) |
splice site |
probably benign |
|
R0255:Sap130
|
UTSW |
18 |
31,813,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R0704:Sap130
|
UTSW |
18 |
31,786,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R1069:Sap130
|
UTSW |
18 |
31,844,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R1086:Sap130
|
UTSW |
18 |
31,783,673 (GRCm39) |
splice site |
probably benign |
|
R1162:Sap130
|
UTSW |
18 |
31,781,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R1478:Sap130
|
UTSW |
18 |
31,813,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1484:Sap130
|
UTSW |
18 |
31,844,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1554:Sap130
|
UTSW |
18 |
31,799,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R1625:Sap130
|
UTSW |
18 |
31,807,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R1771:Sap130
|
UTSW |
18 |
31,769,135 (GRCm39) |
missense |
probably benign |
0.10 |
R1793:Sap130
|
UTSW |
18 |
31,831,640 (GRCm39) |
missense |
probably benign |
0.10 |
R1905:Sap130
|
UTSW |
18 |
31,813,620 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2026:Sap130
|
UTSW |
18 |
31,831,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2074:Sap130
|
UTSW |
18 |
31,781,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R2174:Sap130
|
UTSW |
18 |
31,810,532 (GRCm39) |
critical splice donor site |
probably null |
|
R3927:Sap130
|
UTSW |
18 |
31,807,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4454:Sap130
|
UTSW |
18 |
31,844,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Sap130
|
UTSW |
18 |
31,782,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5222:Sap130
|
UTSW |
18 |
31,799,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5345:Sap130
|
UTSW |
18 |
31,781,251 (GRCm39) |
missense |
probably benign |
0.32 |
R5811:Sap130
|
UTSW |
18 |
31,822,495 (GRCm39) |
missense |
probably benign |
0.01 |
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R6129:Sap130
|
UTSW |
18 |
31,815,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6431:Sap130
|
UTSW |
18 |
31,799,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6930:Sap130
|
UTSW |
18 |
31,815,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6932:Sap130
|
UTSW |
18 |
31,799,407 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7510:Sap130
|
UTSW |
18 |
31,844,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R7510:Sap130
|
UTSW |
18 |
31,800,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7641:Sap130
|
UTSW |
18 |
31,786,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R7870:Sap130
|
UTSW |
18 |
31,853,714 (GRCm39) |
missense |
probably benign |
0.15 |
R7980:Sap130
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
R8772:Sap130
|
UTSW |
18 |
31,813,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R9135:Sap130
|
UTSW |
18 |
31,780,116 (GRCm39) |
missense |
probably benign |
|
R9639:Sap130
|
UTSW |
18 |
31,844,789 (GRCm39) |
critical splice donor site |
probably null |
|
X0021:Sap130
|
UTSW |
18 |
31,780,129 (GRCm39) |
missense |
probably benign |
|
|