Other mutations in this stock |
Total: 119 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
C |
G |
12: 70,215,838 (GRCm39) |
S170C |
probably damaging |
Het |
Acads |
T |
A |
5: 115,251,149 (GRCm39) |
T112S |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,662,202 (GRCm39) |
H1021R |
probably benign |
Het |
Ago3 |
A |
T |
4: 126,241,665 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
A |
G |
14: 49,318,527 (GRCm39) |
K412E |
probably benign |
Het |
Arid1b |
C |
T |
17: 5,389,496 (GRCm39) |
P1681S |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,260,909 (GRCm39) |
|
probably null |
Het |
AU040320 |
A |
G |
4: 126,733,462 (GRCm39) |
T661A |
probably benign |
Het |
Bhmt1b |
C |
A |
18: 87,774,573 (GRCm39) |
A32E |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,082,514 (GRCm39) |
I455M |
probably benign |
Het |
Capzb |
A |
G |
4: 138,920,310 (GRCm39) |
|
probably benign |
Het |
Car10 |
G |
A |
11: 93,469,492 (GRCm39) |
V156I |
possibly damaging |
Het |
Cbs |
T |
A |
17: 31,851,826 (GRCm39) |
D59V |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,377,003 (GRCm39) |
E819G |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,503,613 (GRCm39) |
Q346L |
probably benign |
Het |
Cdhr4 |
T |
C |
9: 107,875,898 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
C |
T |
5: 123,440,835 (GRCm39) |
H1131Y |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,134,184 (GRCm39) |
M721K |
possibly damaging |
Het |
Cntnap5b |
G |
A |
1: 100,286,450 (GRCm39) |
G402R |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,182,145 (GRCm39) |
Y120H |
probably damaging |
Het |
Csf2 |
T |
C |
11: 54,140,306 (GRCm39) |
D44G |
probably benign |
Het |
Cubn |
T |
A |
2: 13,291,835 (GRCm39) |
Q3330L |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,355,869 (GRCm39) |
S1788P |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,811,770 (GRCm39) |
D2486G |
possibly damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,762,293 (GRCm39) |
S451R |
probably damaging |
Het |
Cyp51 |
T |
A |
5: 4,133,256 (GRCm39) |
T461S |
probably damaging |
Het |
Cyth1 |
T |
C |
11: 118,074,768 (GRCm39) |
M164V |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,062,023 (GRCm39) |
I664T |
probably damaging |
Het |
Ddc |
T |
C |
11: 11,796,632 (GRCm39) |
|
probably null |
Het |
Ddx21 |
A |
T |
10: 62,423,900 (GRCm39) |
D589E |
probably damaging |
Het |
Dgkb |
C |
T |
12: 38,164,567 (GRCm39) |
R113C |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,816,602 (GRCm39) |
M415L |
probably benign |
Het |
Efnb2 |
A |
T |
8: 8,673,104 (GRCm39) |
|
probably null |
Het |
Elp4 |
T |
A |
2: 105,639,612 (GRCm39) |
Q189L |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,773,490 (GRCm39) |
N77S |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
F2rl1 |
G |
A |
13: 95,650,477 (GRCm39) |
S135F |
possibly damaging |
Het |
Fam133b |
T |
C |
5: 3,607,815 (GRCm39) |
M65T |
probably damaging |
Het |
Fanca |
A |
G |
8: 124,014,941 (GRCm39) |
V689A |
probably damaging |
Het |
Fbh1 |
C |
T |
2: 11,760,558 (GRCm39) |
C79Y |
probably damaging |
Het |
Fbxw7 |
C |
T |
3: 84,811,168 (GRCm39) |
Q98* |
probably null |
Het |
Flrt3 |
T |
C |
2: 140,502,086 (GRCm39) |
N514S |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,478,857 (GRCm39) |
S438C |
unknown |
Het |
Gcm2 |
T |
C |
13: 41,256,970 (GRCm39) |
K260E |
possibly damaging |
Het |
Gm12863 |
C |
T |
4: 118,811,685 (GRCm39) |
|
noncoding transcript |
Het |
Gpnmb |
G |
T |
6: 49,022,417 (GRCm39) |
|
probably null |
Het |
Gsap |
C |
A |
5: 21,455,941 (GRCm39) |
N379K |
probably benign |
Het |
Hsd3b1 |
T |
A |
3: 98,760,181 (GRCm39) |
Y270F |
probably benign |
Het |
Ift70a2 |
T |
A |
2: 75,807,729 (GRCm39) |
Y261F |
probably benign |
Het |
Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
Lmbrd1 |
G |
A |
1: 24,784,056 (GRCm39) |
|
probably null |
Het |
Lrrcc1 |
C |
T |
3: 14,601,156 (GRCm39) |
R63* |
probably null |
Het |
Lyar |
A |
G |
5: 38,382,123 (GRCm39) |
D35G |
probably damaging |
Het |
Mbd4 |
C |
T |
6: 115,822,283 (GRCm39) |
R442Q |
probably benign |
Het |
Mib2 |
G |
T |
4: 155,744,229 (GRCm39) |
S144R |
probably benign |
Het |
Mms22l |
A |
T |
4: 24,580,052 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
G |
A |
11: 4,437,764 (GRCm39) |
H897Y |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
Nap1l4 |
A |
T |
7: 143,088,200 (GRCm39) |
|
probably null |
Het |
Ncor2 |
A |
T |
5: 125,114,124 (GRCm39) |
|
probably null |
Het |
Ndufa7 |
T |
C |
17: 34,057,187 (GRCm39) |
|
probably benign |
Het |
Ndufs1 |
C |
A |
1: 63,200,108 (GRCm39) |
G268V |
probably damaging |
Het |
Nfs1 |
A |
G |
2: 155,976,369 (GRCm39) |
V175A |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,466,145 (GRCm39) |
A1528S |
possibly damaging |
Het |
Or2z8 |
A |
G |
8: 72,811,938 (GRCm39) |
N138S |
probably benign |
Het |
Or4a79 |
C |
T |
2: 89,551,706 (GRCm39) |
V250I |
probably benign |
Het |
Or52z1 |
A |
T |
7: 103,436,688 (GRCm39) |
F265L |
possibly damaging |
Het |
Or7a42 |
T |
G |
10: 78,791,931 (GRCm39) |
D297E |
probably null |
Het |
Or8k39 |
C |
T |
2: 86,563,018 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
A |
G |
18: 37,488,706 (GRCm39) |
D128G |
probably damaging |
Het |
Plod3 |
G |
A |
5: 137,019,654 (GRCm39) |
A398T |
probably benign |
Het |
Pou4f3 |
A |
G |
18: 42,529,052 (GRCm39) |
M332V |
possibly damaging |
Het |
Prox1 |
A |
G |
1: 189,885,669 (GRCm39) |
F593L |
probably damaging |
Het |
Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,692,864 (GRCm39) |
D328G |
probably damaging |
Het |
Psmd6 |
C |
T |
14: 14,120,126 (GRCm38) |
S71N |
probably benign |
Het |
Ptprd |
A |
G |
4: 76,009,769 (GRCm39) |
I764T |
probably benign |
Het |
Ptprr |
C |
T |
10: 115,884,123 (GRCm39) |
A60V |
probably benign |
Het |
Raet1e |
T |
A |
10: 22,057,199 (GRCm39) |
D174E |
probably damaging |
Het |
Rbfox2 |
T |
C |
15: 76,976,018 (GRCm39) |
I308M |
probably benign |
Het |
Rnf20 |
G |
C |
4: 49,649,962 (GRCm39) |
|
probably null |
Het |
Rpap2 |
A |
T |
5: 107,768,113 (GRCm39) |
H317L |
probably benign |
Het |
Rsph6a |
T |
A |
7: 18,799,783 (GRCm39) |
Y471* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,704,777 (GRCm39) |
H246R |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Sin3b |
A |
C |
8: 73,452,271 (GRCm39) |
I126L |
probably benign |
Het |
Skint2 |
G |
A |
4: 112,509,305 (GRCm39) |
A363T |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,321,768 (GRCm39) |
I432T |
probably benign |
Het |
Slc2a2 |
G |
A |
3: 28,771,681 (GRCm39) |
|
probably null |
Het |
Slco1a5 |
T |
C |
6: 142,194,533 (GRCm39) |
Y370C |
possibly damaging |
Het |
Sltm |
A |
G |
9: 70,496,339 (GRCm39) |
H958R |
probably damaging |
Het |
Smpdl3a |
C |
T |
10: 57,684,111 (GRCm39) |
H290Y |
probably damaging |
Het |
Snrnp40 |
A |
G |
4: 130,256,549 (GRCm39) |
I91M |
probably damaging |
Het |
Spag9 |
T |
A |
11: 93,939,343 (GRCm39) |
F91I |
probably damaging |
Het |
Spag9 |
A |
T |
11: 93,939,342 (GRCm39) |
K90N |
possibly damaging |
Het |
Stox1 |
A |
C |
10: 62,501,516 (GRCm39) |
I348S |
probably damaging |
Het |
Sult1e1 |
A |
G |
5: 87,738,027 (GRCm39) |
V18A |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,945,941 (GRCm39) |
M338V |
probably benign |
Het |
Tbc1d23 |
T |
A |
16: 57,012,991 (GRCm39) |
Q327L |
probably benign |
Het |
Terf2 |
G |
T |
8: 107,803,307 (GRCm39) |
H425Q |
probably benign |
Het |
Timd2 |
A |
T |
11: 46,568,094 (GRCm39) |
Y233* |
probably null |
Het |
Tmem39a |
A |
G |
16: 38,411,524 (GRCm39) |
|
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,037,424 (GRCm39) |
D793G |
possibly damaging |
Het |
Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
Unc93a |
T |
C |
17: 13,339,782 (GRCm39) |
|
probably null |
Het |
Utrn |
T |
C |
10: 12,625,813 (GRCm39) |
T123A |
probably damaging |
Het |
Vmn1r171 |
T |
C |
7: 23,332,369 (GRCm39) |
I198T |
probably benign |
Het |
Vmn1r213 |
T |
A |
13: 23,196,016 (GRCm39) |
S200T |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,682,891 (GRCm39) |
D771V |
probably damaging |
Het |
Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
Zc3h13 |
G |
A |
14: 75,576,863 (GRCm39) |
C1657Y |
probably damaging |
Het |
Zdhhc5 |
T |
C |
2: 84,523,775 (GRCm39) |
K224E |
probably damaging |
Het |
Zfp54 |
T |
A |
17: 21,654,402 (GRCm39) |
Y299N |
probably damaging |
Het |
Zfp820 |
A |
T |
17: 22,037,966 (GRCm39) |
L454Q |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,698 (GRCm39) |
F471I |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,830,169 (GRCm39) |
I515V |
probably benign |
Het |
Zzef1 |
G |
T |
11: 72,750,449 (GRCm39) |
S919I |
probably benign |
Het |
|
Other mutations in Pkp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Pkp4
|
APN |
2 |
59,169,099 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00987:Pkp4
|
APN |
2 |
59,138,701 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01321:Pkp4
|
APN |
2 |
59,180,971 (GRCm39) |
splice site |
probably null |
|
IGL01393:Pkp4
|
APN |
2 |
59,178,269 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Pkp4
|
APN |
2 |
59,142,073 (GRCm39) |
nonsense |
probably null |
|
IGL02313:Pkp4
|
APN |
2 |
59,140,598 (GRCm39) |
nonsense |
probably null |
|
IGL02635:Pkp4
|
APN |
2 |
59,135,842 (GRCm39) |
unclassified |
probably benign |
|
IGL03017:Pkp4
|
APN |
2 |
59,096,769 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03051:Pkp4
|
APN |
2 |
59,142,106 (GRCm39) |
missense |
probably benign |
0.29 |
Degrasso
|
UTSW |
2 |
59,148,944 (GRCm39) |
missense |
probably damaging |
1.00 |
melted
|
UTSW |
2 |
59,165,276 (GRCm39) |
critical splice donor site |
probably null |
|
BB004:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
BB014:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
R0206:Pkp4
|
UTSW |
2 |
59,096,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R0207:Pkp4
|
UTSW |
2 |
59,135,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0208:Pkp4
|
UTSW |
2 |
59,096,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R0325:Pkp4
|
UTSW |
2 |
59,148,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Pkp4
|
UTSW |
2 |
59,152,987 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0781:Pkp4
|
UTSW |
2 |
59,169,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Pkp4
|
UTSW |
2 |
59,169,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Pkp4
|
UTSW |
2 |
59,045,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Pkp4
|
UTSW |
2 |
59,152,898 (GRCm39) |
missense |
probably benign |
0.00 |
R1654:Pkp4
|
UTSW |
2 |
59,167,963 (GRCm39) |
missense |
probably damaging |
0.96 |
R1760:Pkp4
|
UTSW |
2 |
59,142,185 (GRCm39) |
missense |
probably damaging |
0.97 |
R2051:Pkp4
|
UTSW |
2 |
59,165,248 (GRCm39) |
missense |
probably benign |
0.37 |
R2871:Pkp4
|
UTSW |
2 |
59,138,500 (GRCm39) |
missense |
probably benign |
0.35 |
R2871:Pkp4
|
UTSW |
2 |
59,138,500 (GRCm39) |
missense |
probably benign |
0.35 |
R3161:Pkp4
|
UTSW |
2 |
59,138,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Pkp4
|
UTSW |
2 |
59,135,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R4342:Pkp4
|
UTSW |
2 |
59,180,952 (GRCm39) |
missense |
probably damaging |
0.98 |
R4731:Pkp4
|
UTSW |
2 |
59,165,276 (GRCm39) |
critical splice donor site |
probably null |
|
R4913:Pkp4
|
UTSW |
2 |
59,135,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:Pkp4
|
UTSW |
2 |
59,140,617 (GRCm39) |
nonsense |
probably null |
|
R5418:Pkp4
|
UTSW |
2 |
59,140,506 (GRCm39) |
missense |
probably benign |
0.09 |
R5906:Pkp4
|
UTSW |
2 |
59,135,420 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5946:Pkp4
|
UTSW |
2 |
59,135,411 (GRCm39) |
missense |
probably benign |
0.01 |
R6360:Pkp4
|
UTSW |
2 |
59,045,091 (GRCm39) |
missense |
probably benign |
0.01 |
R6616:Pkp4
|
UTSW |
2 |
59,180,896 (GRCm39) |
nonsense |
probably null |
|
R6817:Pkp4
|
UTSW |
2 |
59,148,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Pkp4
|
UTSW |
2 |
59,140,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7408:Pkp4
|
UTSW |
2 |
59,142,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Pkp4
|
UTSW |
2 |
59,138,481 (GRCm39) |
missense |
probably benign |
0.12 |
R7702:Pkp4
|
UTSW |
2 |
59,138,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R7787:Pkp4
|
UTSW |
2 |
59,152,881 (GRCm39) |
missense |
probably damaging |
0.98 |
R7927:Pkp4
|
UTSW |
2 |
59,142,098 (GRCm39) |
missense |
probably damaging |
0.97 |
R8055:Pkp4
|
UTSW |
2 |
59,138,359 (GRCm39) |
missense |
probably benign |
|
R8359:Pkp4
|
UTSW |
2 |
59,180,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8465:Pkp4
|
UTSW |
2 |
59,172,525 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8555:Pkp4
|
UTSW |
2 |
59,138,379 (GRCm39) |
nonsense |
probably null |
|
R8909:Pkp4
|
UTSW |
2 |
59,184,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9224:Pkp4
|
UTSW |
2 |
59,144,738 (GRCm39) |
missense |
probably benign |
0.41 |
R9397:Pkp4
|
UTSW |
2 |
59,148,856 (GRCm39) |
nonsense |
probably null |
|
R9486:Pkp4
|
UTSW |
2 |
59,138,722 (GRCm39) |
missense |
probably benign |
0.27 |
R9583:Pkp4
|
UTSW |
2 |
59,178,104 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9732:Pkp4
|
UTSW |
2 |
59,138,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Pkp4
|
UTSW |
2 |
59,172,588 (GRCm39) |
critical splice donor site |
probably null |
|
|