Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
C |
15: 91,033,378 (GRCm39) |
D679E |
probably damaging |
Het |
Adh6a |
A |
T |
3: 138,030,642 (GRCm39) |
D88V |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,809,707 (GRCm39) |
V1123I |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,922,335 (GRCm39) |
V801A |
possibly damaging |
Het |
Bcl2a1a |
C |
T |
9: 88,839,095 (GRCm39) |
|
probably benign |
Het |
Brd8 |
A |
G |
18: 34,743,680 (GRCm39) |
V215A |
possibly damaging |
Het |
Cdk17 |
G |
A |
10: 93,074,830 (GRCm39) |
V454I |
probably benign |
Het |
Chd5 |
G |
A |
4: 152,470,182 (GRCm39) |
G1876D |
probably damaging |
Het |
Clec4g |
T |
C |
8: 3,768,356 (GRCm39) |
E125G |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,247,420 (GRCm39) |
G1602D |
probably damaging |
Het |
Depdc7 |
A |
C |
2: 104,558,439 (GRCm39) |
L194R |
probably damaging |
Het |
Dgke |
T |
G |
11: 88,946,195 (GRCm39) |
N202H |
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,883,798 (GRCm39) |
C233S |
probably damaging |
Het |
Dmpk |
A |
C |
7: 18,826,166 (GRCm39) |
D542A |
probably damaging |
Het |
Epb41l4a |
G |
A |
18: 34,007,254 (GRCm39) |
R246W |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,285,493 (GRCm39) |
Q1438L |
probably damaging |
Het |
Gcgr |
A |
G |
11: 120,427,643 (GRCm39) |
|
probably null |
Het |
Gm10295 |
T |
C |
7: 71,000,250 (GRCm39) |
K110R |
unknown |
Het |
Ifrd1 |
A |
G |
12: 40,267,375 (GRCm39) |
|
probably null |
Het |
Inpp5f |
A |
G |
7: 128,296,624 (GRCm39) |
T365A |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,559,383 (GRCm39) |
K551R |
probably benign |
Het |
Lama2 |
A |
T |
10: 26,917,216 (GRCm39) |
N2236K |
probably damaging |
Het |
Larp7 |
A |
T |
3: 127,337,844 (GRCm39) |
I405N |
possibly damaging |
Het |
Meltf |
C |
A |
16: 31,709,596 (GRCm39) |
Y432* |
probably null |
Het |
Mst1r |
C |
A |
9: 107,790,352 (GRCm39) |
T655K |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,093,308 (GRCm39) |
P133L |
probably damaging |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or52r1c |
A |
T |
7: 102,735,405 (GRCm39) |
M222L |
probably benign |
Het |
Or5b102 |
A |
T |
19: 13,041,552 (GRCm39) |
Q259L |
probably benign |
Het |
Or6a2 |
A |
G |
7: 106,600,561 (GRCm39) |
S169P |
possibly damaging |
Het |
Pfkl |
A |
T |
10: 77,835,967 (GRCm39) |
|
probably null |
Het |
Plekhb2 |
T |
C |
1: 34,916,073 (GRCm39) |
M204T |
probably damaging |
Het |
Ptp4a2 |
G |
A |
4: 129,738,986 (GRCm39) |
|
probably null |
Het |
Rtp4 |
A |
G |
16: 23,431,704 (GRCm39) |
T79A |
probably benign |
Het |
Senp3 |
T |
C |
11: 69,568,815 (GRCm39) |
D410G |
probably benign |
Het |
Slc16a5 |
T |
C |
11: 115,360,176 (GRCm39) |
F120L |
possibly damaging |
Het |
Snrpe |
T |
C |
1: 133,536,669 (GRCm39) |
E37G |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,463,875 (GRCm39) |
T192A |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,497,858 (GRCm39) |
S375G |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,657 (GRCm39) |
L265P |
probably benign |
Het |
Tcp10a |
T |
A |
17: 7,597,318 (GRCm39) |
D158E |
probably damaging |
Het |
Tesk2 |
A |
T |
4: 116,629,017 (GRCm39) |
H122L |
probably damaging |
Het |
Tut7 |
T |
G |
13: 59,959,335 (GRCm39) |
N378H |
probably damaging |
Het |
Unc93b1 |
T |
A |
19: 3,998,686 (GRCm39) |
M535K |
probably damaging |
Het |
Vangl1 |
C |
A |
3: 102,091,347 (GRCm39) |
R246S |
probably damaging |
Het |
Xpo5 |
C |
T |
17: 46,519,059 (GRCm39) |
T166I |
probably damaging |
Het |
Zmiz2 |
T |
C |
11: 6,349,500 (GRCm39) |
|
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 |
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 |
R9240:Spef2
|
UTSW |
15 |
9,578,401 (GRCm39) |
nonsense |
probably null |
|
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 |
|