Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
A |
G |
8: 46,966,406 (GRCm39) |
I187V |
probably benign |
Het |
Adam7 |
C |
A |
14: 68,747,208 (GRCm39) |
V584L |
probably benign |
Het |
Arsg |
T |
A |
11: 109,463,093 (GRCm39) |
V451E |
probably benign |
Het |
Btbd8 |
A |
G |
5: 107,600,034 (GRCm39) |
D175G |
probably benign |
Het |
Cacnb3 |
C |
T |
15: 98,540,486 (GRCm39) |
P338L |
probably benign |
Het |
Cars1 |
G |
T |
7: 143,138,533 (GRCm39) |
P218Q |
probably benign |
Het |
Ccdc180 |
T |
C |
4: 45,917,566 (GRCm39) |
|
probably null |
Het |
Cdh23 |
C |
T |
10: 60,215,044 (GRCm39) |
D1431N |
probably benign |
Het |
Cenpf |
A |
T |
1: 189,389,167 (GRCm39) |
V1555D |
probably benign |
Het |
Creb3l2 |
T |
C |
6: 37,311,506 (GRCm39) |
N428D |
possibly damaging |
Het |
Crebbp |
A |
T |
16: 3,917,537 (GRCm39) |
|
probably null |
Het |
Cstf1 |
C |
A |
2: 172,217,669 (GRCm39) |
P94Q |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,447 (GRCm39) |
|
probably null |
Het |
Dlc1 |
A |
T |
8: 37,052,005 (GRCm39) |
D124E |
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
Eea1 |
T |
G |
10: 95,776,824 (GRCm39) |
I5S |
probably benign |
Het |
F7 |
A |
T |
8: 13,085,173 (GRCm39) |
T400S |
probably damaging |
Het |
Fbxo38 |
C |
A |
18: 62,651,632 (GRCm39) |
E558* |
probably null |
Het |
Fcgr2b |
C |
T |
1: 170,797,042 (GRCm39) |
|
probably null |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Flt1 |
T |
C |
5: 147,618,676 (GRCm39) |
N220D |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,812 (GRCm39) |
Y358H |
probably damaging |
Het |
Gcc2 |
C |
T |
10: 58,106,398 (GRCm39) |
Q545* |
probably null |
Het |
Gkn3 |
T |
C |
6: 87,365,789 (GRCm39) |
N10S |
probably benign |
Het |
Gls |
C |
G |
1: 52,207,553 (GRCm39) |
V604L |
probably benign |
Het |
Gtf2i |
T |
A |
5: 134,292,619 (GRCm39) |
Q375L |
probably benign |
Het |
Hells |
A |
G |
19: 38,935,289 (GRCm39) |
M320V |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,310,410 (GRCm39) |
S497G |
possibly damaging |
Het |
Iqub |
C |
A |
6: 24,505,622 (GRCm39) |
L95F |
probably benign |
Het |
Mat1a |
G |
A |
14: 40,827,573 (GRCm39) |
C9Y |
probably benign |
Het |
Mfsd4b5 |
A |
G |
10: 39,851,099 (GRCm39) |
L103P |
probably damaging |
Het |
Ms4a14 |
T |
C |
19: 11,281,864 (GRCm39) |
I231M |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,449,309 (GRCm39) |
T7580A |
unknown |
Het |
Myb |
A |
T |
10: 21,016,500 (GRCm39) |
L670Q |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,906,988 (GRCm39) |
L236P |
unknown |
Het |
Or5d38 |
A |
C |
2: 87,955,231 (GRCm39) |
F33V |
probably benign |
Het |
Plscr4 |
A |
T |
9: 92,366,934 (GRCm39) |
M183L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,940,661 (GRCm39) |
C998* |
probably null |
Het |
Prokr2 |
A |
T |
2: 132,223,377 (GRCm39) |
V55E |
possibly damaging |
Het |
Prr12 |
A |
T |
7: 44,684,075 (GRCm39) |
V1655E |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Rspo1 |
C |
T |
4: 124,885,132 (GRCm39) |
L3F |
probably benign |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,082 (GRCm39) |
D171E |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,743,313 (GRCm39) |
F3895L |
probably damaging |
Het |
Scn8a |
G |
T |
15: 100,915,068 (GRCm39) |
G1211* |
probably null |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Smarcd3 |
T |
A |
5: 24,801,831 (GRCm39) |
M103L |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,739,031 (GRCm39) |
S3458T |
probably benign |
Het |
Smg6 |
C |
T |
11: 74,825,884 (GRCm39) |
R738W |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,926,464 (GRCm39) |
V162E |
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,032,748 (GRCm39) |
N154K |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,818,960 (GRCm39) |
S532G |
probably benign |
Het |
Tedc1 |
T |
C |
12: 113,121,310 (GRCm39) |
I177T |
probably benign |
Het |
Tnrc6b |
G |
C |
15: 80,764,262 (GRCm39) |
G588A |
probably damaging |
Het |
Top2a |
T |
A |
11: 98,901,368 (GRCm39) |
K519* |
probably null |
Het |
Trim47 |
T |
A |
11: 115,999,148 (GRCm39) |
M243L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,865 (GRCm39) |
|
probably null |
Het |
Uggt1 |
T |
C |
1: 36,221,696 (GRCm39) |
E624G |
possibly damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,996,099 (GRCm39) |
V183A |
possibly damaging |
Het |
Zfp212 |
T |
A |
6: 47,906,032 (GRCm39) |
V197E |
probably benign |
Het |
|
Other mutations in Spef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Spef2
|
APN |
15 |
9,740,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00886:Spef2
|
APN |
15 |
9,663,181 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01409:Spef2
|
APN |
15 |
9,716,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01413:Spef2
|
APN |
15 |
9,676,376 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01474:Spef2
|
APN |
15 |
9,663,244 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01603:Spef2
|
APN |
15 |
9,704,466 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02320:Spef2
|
APN |
15 |
9,717,662 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02570:Spef2
|
APN |
15 |
9,717,584 (GRCm39) |
nonsense |
probably null |
|
IGL02605:Spef2
|
APN |
15 |
9,725,238 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02890:Spef2
|
APN |
15 |
9,748,853 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02904:Spef2
|
APN |
15 |
9,679,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02942:Spef2
|
APN |
15 |
9,668,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02953:Spef2
|
APN |
15 |
9,713,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02965:Spef2
|
APN |
15 |
9,725,192 (GRCm39) |
splice site |
probably benign |
|
IGL03263:Spef2
|
APN |
15 |
9,667,305 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03302:Spef2
|
APN |
15 |
9,676,466 (GRCm39) |
missense |
probably benign |
0.01 |
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Spef2
|
UTSW |
15 |
9,716,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0386:Spef2
|
UTSW |
15 |
9,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Spef2
|
UTSW |
15 |
9,584,070 (GRCm39) |
critical splice donor site |
probably null |
|
R0617:Spef2
|
UTSW |
15 |
9,592,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R0655:Spef2
|
UTSW |
15 |
9,626,217 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0829:Spef2
|
UTSW |
15 |
9,687,899 (GRCm39) |
missense |
probably benign |
0.10 |
R0908:Spef2
|
UTSW |
15 |
9,614,281 (GRCm39) |
splice site |
probably null |
|
R0939:Spef2
|
UTSW |
15 |
9,704,636 (GRCm39) |
splice site |
probably null |
|
R0973:Spef2
|
UTSW |
15 |
9,716,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R1371:Spef2
|
UTSW |
15 |
9,725,194 (GRCm39) |
splice site |
probably benign |
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
R1428:Spef2
|
UTSW |
15 |
9,596,793 (GRCm39) |
unclassified |
probably benign |
|
R1518:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Spef2
|
UTSW |
15 |
9,596,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Spef2
|
UTSW |
15 |
9,634,738 (GRCm39) |
missense |
probably damaging |
0.99 |
R1723:Spef2
|
UTSW |
15 |
9,614,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Spef2
|
UTSW |
15 |
9,679,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1818:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1873:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1875:Spef2
|
UTSW |
15 |
9,597,487 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1875:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1897:Spef2
|
UTSW |
15 |
9,729,740 (GRCm39) |
nonsense |
probably null |
|
R1901:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Spef2
|
UTSW |
15 |
9,663,280 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1968:Spef2
|
UTSW |
15 |
9,609,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R1973:Spef2
|
UTSW |
15 |
9,663,152 (GRCm39) |
makesense |
probably null |
|
R1998:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1999:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2008:Spef2
|
UTSW |
15 |
9,713,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2111:Spef2
|
UTSW |
15 |
9,589,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R2127:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2405:Spef2
|
UTSW |
15 |
9,626,120 (GRCm39) |
nonsense |
probably null |
|
R2517:Spef2
|
UTSW |
15 |
9,725,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2889:Spef2
|
UTSW |
15 |
9,630,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R2988:Spef2
|
UTSW |
15 |
9,682,709 (GRCm39) |
missense |
probably benign |
0.43 |
R3792:Spef2
|
UTSW |
15 |
9,704,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Spef2
|
UTSW |
15 |
9,626,107 (GRCm39) |
missense |
probably benign |
0.13 |
R4159:Spef2
|
UTSW |
15 |
9,676,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4199:Spef2
|
UTSW |
15 |
9,667,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4321:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4568:Spef2
|
UTSW |
15 |
9,647,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Spef2
|
UTSW |
15 |
9,647,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Spef2
|
UTSW |
15 |
9,676,459 (GRCm39) |
missense |
probably benign |
0.42 |
R4684:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
probably benign |
0.44 |
R4761:Spef2
|
UTSW |
15 |
9,653,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Spef2
|
UTSW |
15 |
9,713,264 (GRCm39) |
nonsense |
probably null |
|
R5004:Spef2
|
UTSW |
15 |
9,578,413 (GRCm39) |
missense |
probably benign |
0.02 |
R5157:Spef2
|
UTSW |
15 |
9,668,877 (GRCm39) |
nonsense |
probably null |
|
R5230:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5315:Spef2
|
UTSW |
15 |
9,596,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R5400:Spef2
|
UTSW |
15 |
9,614,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Spef2
|
UTSW |
15 |
9,583,922 (GRCm39) |
missense |
probably benign |
0.02 |
R5599:Spef2
|
UTSW |
15 |
9,729,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5605:Spef2
|
UTSW |
15 |
9,609,606 (GRCm39) |
missense |
probably damaging |
0.96 |
R5787:Spef2
|
UTSW |
15 |
9,748,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5939:Spef2
|
UTSW |
15 |
9,614,301 (GRCm39) |
missense |
probably benign |
0.16 |
R6177:Spef2
|
UTSW |
15 |
9,727,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6641:Spef2
|
UTSW |
15 |
9,626,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R6665:Spef2
|
UTSW |
15 |
9,600,604 (GRCm39) |
critical splice donor site |
probably null |
|
R6944:Spef2
|
UTSW |
15 |
9,592,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Spef2
|
UTSW |
15 |
9,685,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6968:Spef2
|
UTSW |
15 |
9,597,426 (GRCm39) |
missense |
probably benign |
0.02 |
R7089:Spef2
|
UTSW |
15 |
9,725,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Spef2
|
UTSW |
15 |
9,729,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Spef2
|
UTSW |
15 |
9,717,689 (GRCm39) |
missense |
probably benign |
0.29 |
R7223:Spef2
|
UTSW |
15 |
9,601,726 (GRCm39) |
missense |
unknown |
|
R7263:Spef2
|
UTSW |
15 |
9,653,098 (GRCm39) |
splice site |
probably null |
|
R7270:Spef2
|
UTSW |
15 |
9,600,066 (GRCm39) |
critical splice donor site |
probably null |
|
R7303:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7369:Spef2
|
UTSW |
15 |
9,584,293 (GRCm39) |
missense |
probably benign |
0.02 |
R7464:Spef2
|
UTSW |
15 |
9,740,671 (GRCm39) |
missense |
probably benign |
0.23 |
R7498:Spef2
|
UTSW |
15 |
9,727,625 (GRCm39) |
missense |
probably benign |
|
R7587:Spef2
|
UTSW |
15 |
9,713,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Spef2
|
UTSW |
15 |
9,653,031 (GRCm39) |
missense |
probably damaging |
0.98 |
R7772:Spef2
|
UTSW |
15 |
9,704,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R7838:Spef2
|
UTSW |
15 |
9,609,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7854:Spef2
|
UTSW |
15 |
9,596,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7855:Spef2
|
UTSW |
15 |
9,687,981 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7889:Spef2
|
UTSW |
15 |
9,717,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Spef2
|
UTSW |
15 |
9,601,171 (GRCm39) |
missense |
unknown |
|
R8105:Spef2
|
UTSW |
15 |
9,682,748 (GRCm39) |
missense |
probably benign |
0.06 |
R8151:Spef2
|
UTSW |
15 |
9,601,598 (GRCm39) |
missense |
unknown |
|
R8296:Spef2
|
UTSW |
15 |
9,727,629 (GRCm39) |
missense |
probably benign |
0.06 |
R8393:Spef2
|
UTSW |
15 |
9,676,615 (GRCm39) |
missense |
probably benign |
0.27 |
R8405:Spef2
|
UTSW |
15 |
9,612,643 (GRCm39) |
missense |
probably benign |
0.00 |
R8552:Spef2
|
UTSW |
15 |
9,600,765 (GRCm39) |
intron |
probably benign |
|
R8691:Spef2
|
UTSW |
15 |
9,602,005 (GRCm39) |
nonsense |
probably null |
|
R8751:Spef2
|
UTSW |
15 |
9,729,723 (GRCm39) |
nonsense |
probably null |
|
R8847:Spef2
|
UTSW |
15 |
9,668,913 (GRCm39) |
missense |
probably benign |
|
R8864:Spef2
|
UTSW |
15 |
9,599,833 (GRCm39) |
missense |
unknown |
|
R8868:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8916:Spef2
|
UTSW |
15 |
9,725,266 (GRCm39) |
nonsense |
probably null |
|
R8935:Spef2
|
UTSW |
15 |
9,607,436 (GRCm39) |
missense |
probably damaging |
0.98 |
R8961:Spef2
|
UTSW |
15 |
9,647,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8978:Spef2
|
UTSW |
15 |
9,725,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9062:Spef2
|
UTSW |
15 |
9,601,717 (GRCm39) |
missense |
unknown |
|
R9076:Spef2
|
UTSW |
15 |
9,653,091 (GRCm39) |
missense |
probably benign |
0.13 |
R9149:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R9162:Spef2
|
UTSW |
15 |
9,602,017 (GRCm39) |
missense |
unknown |
|
R9216:Spef2
|
UTSW |
15 |
9,647,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Spef2
|
UTSW |
15 |
9,727,495 (GRCm39) |
critical splice donor site |
probably null |
|
R9341:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9389:Spef2
|
UTSW |
15 |
9,725,307 (GRCm39) |
missense |
probably damaging |
0.96 |
R9476:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Spef2
|
UTSW |
15 |
9,601,885 (GRCm39) |
missense |
unknown |
|
R9575:Spef2
|
UTSW |
15 |
9,596,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R9597:Spef2
|
UTSW |
15 |
9,599,897 (GRCm39) |
missense |
unknown |
|
R9765:Spef2
|
UTSW |
15 |
9,601,945 (GRCm39) |
missense |
unknown |
|
X0025:Spef2
|
UTSW |
15 |
9,596,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|