Incidental Mutation 'R1432:Catsperb'
ID |
162334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsperb
|
Ensembl Gene |
ENSMUSG00000047014 |
Gene Name |
cation channel sperm associated auxiliary subunit beta |
Synonyms |
4932415G16Rik |
MMRRC Submission |
039487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101588476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 953
(Y953C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
AlphaFold |
A2RTF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055156
AA Change: Y953C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052089 Gene: ENSMUSG00000047014 AA Change: Y953C
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
|
Meta Mutation Damage Score |
0.4740 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,217,361 (GRCm39) |
|
probably null |
Het |
9130401M01Rik |
A |
T |
15: 57,892,256 (GRCm39) |
L117Q |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,887,771 (GRCm39) |
K886E |
possibly damaging |
Het |
Acaa2 |
A |
T |
18: 74,920,198 (GRCm39) |
I9F |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,929,901 (GRCm39) |
S386T |
probably damaging |
Het |
Acsm2 |
A |
T |
7: 119,172,798 (GRCm39) |
I138F |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,540,342 (GRCm39) |
Y1424C |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,952,588 (GRCm39) |
F171Y |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,148,183 (GRCm39) |
V1079A |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Armc8 |
C |
T |
9: 99,405,185 (GRCm39) |
|
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,893,001 (GRCm39) |
A720V |
probably damaging |
Het |
Chka |
T |
C |
19: 3,924,809 (GRCm39) |
|
probably benign |
Het |
Clcc1 |
T |
C |
3: 108,575,418 (GRCm39) |
I165T |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Dip2c |
C |
A |
13: 9,603,340 (GRCm39) |
P297Q |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,914,153 (GRCm39) |
W4429R |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,478,082 (GRCm39) |
V138A |
possibly damaging |
Het |
Dus4l |
T |
C |
12: 31,698,770 (GRCm39) |
N78S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,895,533 (GRCm39) |
|
probably benign |
Het |
Epm2a |
T |
A |
10: 11,266,587 (GRCm39) |
Y111N |
probably damaging |
Het |
Gm773 |
T |
C |
X: 55,247,377 (GRCm39) |
T52A |
probably benign |
Het |
Gpam |
C |
A |
19: 55,067,693 (GRCm39) |
M483I |
probably damaging |
Het |
Gpr12 |
T |
C |
5: 146,520,235 (GRCm39) |
H229R |
probably damaging |
Het |
Gpr149 |
T |
C |
3: 62,438,439 (GRCm39) |
T573A |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hells |
T |
A |
19: 38,945,628 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,751 (GRCm39) |
N3102K |
probably benign |
Het |
Herc3 |
A |
T |
6: 58,893,827 (GRCm39) |
T968S |
possibly damaging |
Het |
Ift88 |
A |
G |
14: 57,674,736 (GRCm39) |
Y69C |
probably benign |
Het |
Incenp |
G |
A |
19: 9,862,890 (GRCm39) |
T388M |
unknown |
Het |
Jrkl |
A |
G |
9: 13,245,337 (GRCm39) |
F108S |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,542 (GRCm39) |
E54G |
possibly damaging |
Het |
Kif6 |
T |
A |
17: 49,927,728 (GRCm39) |
F58L |
probably damaging |
Het |
Klk14 |
T |
C |
7: 43,344,342 (GRCm39) |
S218P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,655,319 (GRCm39) |
M19T |
probably benign |
Het |
Llgl1 |
G |
T |
11: 60,599,380 (GRCm39) |
G454C |
probably damaging |
Het |
Lyrm4 |
A |
G |
13: 36,276,898 (GRCm39) |
V33A |
probably benign |
Het |
Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,733,301 (GRCm39) |
M692K |
probably damaging |
Het |
Mmp28 |
C |
T |
11: 83,333,765 (GRCm39) |
R392H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,210,788 (GRCm39) |
T1699M |
probably damaging |
Het |
Mrps11 |
T |
C |
7: 78,433,310 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,866 (GRCm39) |
N504S |
probably benign |
Het |
Msmo1 |
A |
G |
8: 65,180,650 (GRCm39) |
|
probably benign |
Het |
Mst1 |
A |
G |
9: 107,961,403 (GRCm39) |
E571G |
probably benign |
Het |
Myh14 |
T |
C |
7: 44,265,723 (GRCm39) |
E1585G |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,613,332 (GRCm39) |
C824R |
probably damaging |
Het |
Ncapd3 |
C |
T |
9: 26,981,168 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
G |
GGTTCTTC |
7: 26,163,622 (GRCm39) |
|
probably null |
Het |
Nos1 |
C |
T |
5: 118,087,684 (GRCm39) |
|
probably benign |
Het |
Notch3 |
T |
C |
17: 32,383,198 (GRCm39) |
S47G |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,221,371 (GRCm39) |
Y122C |
probably damaging |
Het |
Or10ak12 |
T |
C |
4: 118,666,435 (GRCm39) |
M209V |
probably benign |
Het |
Or1j11 |
C |
T |
2: 36,311,655 (GRCm39) |
L82F |
probably damaging |
Het |
Or5a1 |
G |
T |
19: 12,097,603 (GRCm39) |
R158S |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,807 (GRCm39) |
T42I |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,483 (GRCm39) |
V48E |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,548 (GRCm39) |
L145M |
possibly damaging |
Het |
Otog |
G |
T |
7: 45,950,007 (GRCm39) |
V2490F |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,350,425 (GRCm39) |
V191A |
probably benign |
Het |
Pip |
A |
G |
6: 41,826,852 (GRCm39) |
M66V |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,449,771 (GRCm39) |
R830C |
probably benign |
Het |
Prkca |
A |
T |
11: 107,830,346 (GRCm39) |
V248E |
probably benign |
Het |
Prmt7 |
T |
A |
8: 106,963,916 (GRCm39) |
L253* |
probably null |
Het |
Prrc2a |
G |
T |
17: 35,372,888 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
A |
G |
9: 89,894,853 (GRCm39) |
D1091G |
probably benign |
Het |
Rbm7 |
C |
A |
9: 48,401,245 (GRCm39) |
G161V |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,152,773 (GRCm39) |
I736N |
probably damaging |
Het |
Skint6 |
A |
G |
4: 112,726,721 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,803,195 (GRCm39) |
H10Y |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,821 (GRCm39) |
|
probably benign |
Het |
Stk40 |
T |
C |
4: 126,030,626 (GRCm39) |
L282P |
probably damaging |
Het |
Tas2r110 |
A |
G |
6: 132,845,331 (GRCm39) |
N121D |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 55,893,758 (GRCm39) |
Y1272H |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,665,970 (GRCm39) |
F164S |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,836,021 (GRCm39) |
D696G |
probably damaging |
Het |
Trdmt1 |
T |
C |
2: 13,524,657 (GRCm39) |
Y266C |
probably damaging |
Het |
Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
Twf2 |
T |
A |
9: 106,092,012 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,926,635 (GRCm39) |
T580A |
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,152,285 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,155 (GRCm39) |
N394S |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,809,169 (GRCm39) |
|
probably benign |
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 |
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 |
R7073:Catsperb
|
UTSW |
12 |
101,475,497 (GRCm39) |
missense |
probably benign |
0.09 |
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'- GGAAACTCTGTCTGGGAAGAACACG -3'
(R):5'- TGAACATGCCAGTGACTCAACTCC -3'
Sequencing Primer
(F):5'- GACAGGGAAGATAATTCCAAtatgtg -3'
(R):5'- GTGAACAGGCTTTGCAATCC -3'
|
Posted On |
2014-03-14 |