Incidental Mutation 'R7073:Catsperb'
| ID |
549057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
045169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7073 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101475497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 347
(T347I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055156
AA Change: T347I
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: T347I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Pfam:CATSPERB
|
569 |
1088 |
1.1e-258 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221241
AA Change: T347I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
G |
13: 81,709,593 (GRCm39) |
E1133D |
probably damaging |
Het |
| Ankrd13b |
A |
T |
11: 77,363,335 (GRCm39) |
D505E |
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,192,289 (GRCm39) |
E361K |
probably damaging |
Het |
| Arap3 |
T |
A |
18: 38,107,495 (GRCm39) |
K1341* |
probably null |
Het |
| Arhgef17 |
A |
C |
7: 100,579,198 (GRCm39) |
Y583* |
probably null |
Het |
| Ash1l |
G |
A |
3: 88,892,647 (GRCm39) |
E1509K |
probably damaging |
Het |
| B430305J03Rik |
T |
G |
3: 61,271,681 (GRCm39) |
R21S |
unknown |
Het |
| Bbof1 |
A |
G |
12: 84,473,609 (GRCm39) |
E313G |
probably damaging |
Het |
| Ccdc24 |
G |
T |
4: 117,729,201 (GRCm39) |
A92D |
probably damaging |
Het |
| Ccdc63 |
T |
C |
5: 122,249,073 (GRCm39) |
T419A |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 129,618,866 (GRCm39) |
V893I |
possibly damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,831,330 (GRCm39) |
D537E |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,444,615 (GRCm39) |
S119G |
probably damaging |
Het |
| Cdkn3 |
T |
C |
14: 47,004,647 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Cdo1 |
G |
A |
18: 46,861,266 (GRCm39) |
|
probably benign |
Het |
| Cdr2 |
A |
T |
7: 120,581,247 (GRCm39) |
F10Y |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,374,865 (GRCm39) |
K1370N |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,176,049 (GRCm39) |
I645F |
probably damaging |
Het |
| Cul7 |
T |
C |
17: 46,969,657 (GRCm39) |
W975R |
probably damaging |
Het |
| Ddx39b |
A |
C |
17: 35,471,826 (GRCm39) |
E324A |
probably benign |
Het |
| Diaph1 |
T |
G |
18: 38,022,867 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,321,318 (GRCm39) |
R3917* |
probably null |
Het |
| Dnph1 |
T |
A |
17: 46,807,815 (GRCm39) |
L27Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,119,788 (GRCm39) |
F880S |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,106,319 (GRCm39) |
Y302* |
probably null |
Het |
| Ergic2 |
G |
T |
6: 148,096,707 (GRCm39) |
H186Q |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,453,031 (GRCm39) |
D12G |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,270,123 (GRCm39) |
V206D |
probably damaging |
Het |
| Fhod1 |
A |
T |
8: 106,063,771 (GRCm39) |
V278D |
unknown |
Het |
| Gba2 |
G |
C |
4: 43,573,753 (GRCm39) |
Q180E |
probably damaging |
Het |
| Grhl3 |
G |
A |
4: 135,300,723 (GRCm39) |
L5F |
probably benign |
Het |
| H2-T15 |
A |
T |
17: 36,369,235 (GRCm39) |
C7S |
unknown |
Het |
| Ifit1bl1 |
C |
T |
19: 34,576,667 (GRCm39) |
|
probably null |
Het |
| Ift57 |
A |
G |
16: 49,584,230 (GRCm39) |
T413A |
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,996,149 (GRCm39) |
F714S |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,577,841 (GRCm39) |
S776P |
probably benign |
Het |
| Kbtbd8 |
G |
A |
6: 95,098,814 (GRCm39) |
A108T |
probably damaging |
Het |
| Kpna6 |
G |
A |
4: 129,548,139 (GRCm39) |
A230V |
probably damaging |
Het |
| Lrfn1 |
C |
T |
7: 28,159,397 (GRCm39) |
L439F |
possibly damaging |
Het |
| Lrrc1 |
T |
A |
9: 77,375,847 (GRCm39) |
I147F |
probably benign |
Het |
| Lrrc7 |
C |
T |
3: 157,832,884 (GRCm39) |
G1425R |
probably damaging |
Het |
| Madd |
T |
A |
2: 90,992,854 (GRCm39) |
I1022F |
probably damaging |
Het |
| Map2k2 |
A |
T |
10: 80,942,017 (GRCm39) |
T13S |
probably benign |
Het |
| Mdc1 |
G |
A |
17: 36,164,960 (GRCm39) |
V1459I |
probably benign |
Het |
| Mdh1b |
G |
A |
1: 63,760,719 (GRCm39) |
T114M |
probably damaging |
Het |
| Mfsd2a |
T |
C |
4: 122,845,088 (GRCm39) |
I208V |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,411 (GRCm39) |
D1147E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,455,177 (GRCm39) |
I2574F |
probably damaging |
Het |
| Nr1d1 |
T |
G |
11: 98,662,892 (GRCm39) |
S34R |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,619,449 (GRCm39) |
D279E |
probably benign |
Het |
| Nrde2 |
T |
C |
12: 100,098,747 (GRCm39) |
D640G |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,817,514 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,631 (GRCm39) |
I49F |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,651 (GRCm39) |
I192F |
probably benign |
Het |
| Otud6b |
A |
C |
4: 14,811,743 (GRCm39) |
M300R |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,471,280 (GRCm39) |
D534E |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,878,299 (GRCm39) |
V618E |
probably benign |
Het |
| Pcgf6 |
A |
C |
19: 47,031,226 (GRCm39) |
N266K |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,968,849 (GRCm39) |
Y196* |
probably null |
Het |
| Plxna1 |
A |
T |
6: 89,334,311 (GRCm39) |
L106Q |
probably damaging |
Het |
| Qrich2 |
G |
A |
11: 116,337,701 (GRCm39) |
A184V |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,325,275 (GRCm39) |
L378S |
probably benign |
Het |
| Rufy1 |
G |
T |
11: 50,295,290 (GRCm39) |
H472Q |
probably benign |
Het |
| Samd7 |
T |
A |
3: 30,810,631 (GRCm39) |
M216K |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,856 (GRCm39) |
Y468* |
probably null |
Het |
| Scn2a |
T |
G |
2: 65,558,787 (GRCm39) |
L1194R |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,056,944 (GRCm39) |
S1043T |
possibly damaging |
Het |
| Slc6a17 |
G |
T |
3: 107,378,755 (GRCm39) |
H642Q |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| St6galnac3 |
T |
A |
3: 153,117,274 (GRCm39) |
T150S |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,941,911 (GRCm39) |
I627N |
possibly damaging |
Het |
| Sv2c |
A |
T |
13: 96,224,758 (GRCm39) |
C184S |
probably damaging |
Het |
| Tm7sf2 |
A |
T |
19: 6,116,527 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
T |
C |
5: 111,371,282 (GRCm39) |
I608T |
possibly damaging |
Het |
| Vmn1r183 |
T |
G |
7: 23,754,926 (GRCm39) |
L243R |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,778 (GRCm39) |
T107A |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 83,006,325 (GRCm39) |
|
probably null |
Het |
| Zpbp2 |
A |
G |
11: 98,443,335 (GRCm39) |
D56G |
probably damaging |
Het |
|
| Other mutations in Catsperb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00532:Catsperb
|
APN |
12 |
101,429,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00580:Catsperb
|
APN |
12 |
101,557,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00661:Catsperb
|
APN |
12 |
101,554,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Catsperb
|
APN |
12 |
101,381,584 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01154:Catsperb
|
APN |
12 |
101,591,940 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01360:Catsperb
|
APN |
12 |
101,591,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Catsperb
|
APN |
12 |
101,446,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL01679:Catsperb
|
APN |
12 |
101,557,841 (GRCm39) |
splice site |
probably null |
|
|
IGL01827:Catsperb
|
APN |
12 |
101,557,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01866:Catsperb
|
APN |
12 |
101,475,570 (GRCm39) |
nonsense |
probably null |
|
|
IGL02161:Catsperb
|
APN |
12 |
101,375,674 (GRCm39) |
splice site |
probably benign |
|
|
IGL02177:Catsperb
|
APN |
12 |
101,507,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Catsperb
|
APN |
12 |
101,446,983 (GRCm39) |
splice site |
probably benign |
|
|
IGL02721:Catsperb
|
APN |
12 |
101,591,556 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02828:Catsperb
|
APN |
12 |
101,447,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB001:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB011:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0571:Catsperb
|
UTSW |
12 |
101,569,033 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0727:Catsperb
|
UTSW |
12 |
101,560,614 (GRCm39) |
splice site |
probably null |
|
|
R0842:Catsperb
|
UTSW |
12 |
101,429,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Catsperb
|
UTSW |
12 |
101,591,991 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1432:Catsperb
|
UTSW |
12 |
101,588,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Catsperb
|
UTSW |
12 |
101,554,456 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1488:Catsperb
|
UTSW |
12 |
101,560,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1540:Catsperb
|
UTSW |
12 |
101,378,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1560:Catsperb
|
UTSW |
12 |
101,591,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1563:Catsperb
|
UTSW |
12 |
101,554,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Catsperb
|
UTSW |
12 |
101,429,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1989:Catsperb
|
UTSW |
12 |
101,568,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Catsperb
|
UTSW |
12 |
101,569,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1995:Catsperb
|
UTSW |
12 |
101,569,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2037:Catsperb
|
UTSW |
12 |
101,474,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Catsperb
|
UTSW |
12 |
101,447,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2217:Catsperb
|
UTSW |
12 |
101,560,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2391:Catsperb
|
UTSW |
12 |
101,590,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Catsperb
|
UTSW |
12 |
101,429,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Catsperb
|
UTSW |
12 |
101,475,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4023:Catsperb
|
UTSW |
12 |
101,568,942 (GRCm39) |
nonsense |
probably null |
|
|
R4507:Catsperb
|
UTSW |
12 |
101,447,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4558:Catsperb
|
UTSW |
12 |
101,557,799 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4649:Catsperb
|
UTSW |
12 |
101,507,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4651:Catsperb
|
UTSW |
12 |
101,507,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4866:Catsperb
|
UTSW |
12 |
101,474,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Catsperb
|
UTSW |
12 |
101,554,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4875:Catsperb
|
UTSW |
12 |
101,554,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4897:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5002:Catsperb
|
UTSW |
12 |
101,486,813 (GRCm39) |
missense |
probably benign |
|
|
R5137:Catsperb
|
UTSW |
12 |
101,516,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5396:Catsperb
|
UTSW |
12 |
101,560,543 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5450:Catsperb
|
UTSW |
12 |
101,412,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5484:Catsperb
|
UTSW |
12 |
101,542,175 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5846:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5905:Catsperb
|
UTSW |
12 |
101,568,959 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5906:Catsperb
|
UTSW |
12 |
101,476,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Catsperb
|
UTSW |
12 |
101,542,091 (GRCm39) |
missense |
probably benign |
|
|
R6034:Catsperb
|
UTSW |
12 |
101,542,091 (GRCm39) |
missense |
probably benign |
|
|
R6149:Catsperb
|
UTSW |
12 |
101,516,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Catsperb
|
UTSW |
12 |
101,542,075 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6210:Catsperb
|
UTSW |
12 |
101,378,827 (GRCm39) |
splice site |
probably null |
|
|
R6297:Catsperb
|
UTSW |
12 |
101,557,655 (GRCm39) |
splice site |
probably null |
|
|
R6302:Catsperb
|
UTSW |
12 |
101,554,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6681:Catsperb
|
UTSW |
12 |
101,590,994 (GRCm39) |
nonsense |
probably null |
|
|
R6698:Catsperb
|
UTSW |
12 |
101,475,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Catsperb
|
UTSW |
12 |
101,446,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6948:Catsperb
|
UTSW |
12 |
101,447,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Catsperb
|
UTSW |
12 |
101,381,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Catsperb
|
UTSW |
12 |
101,412,297 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7338:Catsperb
|
UTSW |
12 |
101,447,243 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7397:Catsperb
|
UTSW |
12 |
101,554,282 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7413:Catsperb
|
UTSW |
12 |
101,447,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Catsperb
|
UTSW |
12 |
101,554,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Catsperb
|
UTSW |
12 |
101,557,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7578:Catsperb
|
UTSW |
12 |
101,554,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7924:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8021:Catsperb
|
UTSW |
12 |
101,554,322 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8060:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8167:Catsperb
|
UTSW |
12 |
101,557,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Catsperb
|
UTSW |
12 |
101,375,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8425:Catsperb
|
UTSW |
12 |
101,569,028 (GRCm39) |
missense |
probably benign |
|
|
R8547:Catsperb
|
UTSW |
12 |
101,412,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Catsperb
|
UTSW |
12 |
101,560,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8906:Catsperb
|
UTSW |
12 |
101,486,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9227:Catsperb
|
UTSW |
12 |
101,516,053 (GRCm39) |
missense |
probably benign |
|
|
R9230:Catsperb
|
UTSW |
12 |
101,516,053 (GRCm39) |
missense |
probably benign |
|
|
R9298:Catsperb
|
UTSW |
12 |
101,560,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
RF006:Catsperb
|
UTSW |
12 |
101,542,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Catsperb
|
UTSW |
12 |
101,412,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCTGTGTCCATGCATG -3'
(R):5'- CACCAGAGATCTTGACAAACTGG -3'
Sequencing Primer
(F):5'- AAGGGACATATGGATTTATTTGTGGC -3'
(R):5'- CTTGACAAACTGGAAATGATGTCTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation