Incidental Mutation 'R7578:Catsperb'
| ID |
586600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
045663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101554544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 746
(I746K)
|
| 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: I746K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: I746K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,120,343 (GRCm39) |
V165E |
probably damaging |
Het |
| 1700025G04Rik |
T |
G |
1: 151,796,841 (GRCm39) |
T75P |
probably benign |
Het |
| 4930516K23Rik |
T |
C |
7: 103,708,104 (GRCm39) |
E235G |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,251,499 (GRCm39) |
C449R |
probably damaging |
Het |
| Adam24 |
T |
C |
8: 41,133,294 (GRCm39) |
V254A |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Aldh1a1 |
A |
C |
19: 20,595,366 (GRCm39) |
R98S |
probably damaging |
Het |
| Alg9 |
A |
G |
9: 50,700,835 (GRCm39) |
I202V |
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,885,789 (GRCm39) |
E162K |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,128 (GRCm39) |
T268A |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,720,834 (GRCm39) |
V354I |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,896 (GRCm39) |
T204A |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,243,186 (GRCm39) |
T1063M |
probably benign |
Het |
| Cherp |
G |
A |
8: 73,218,102 (GRCm39) |
R543C |
|
Het |
| Cldn20 |
A |
G |
17: 3,583,274 (GRCm39) |
D149G |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,083,807 (GRCm39) |
Q474R |
probably benign |
Het |
| Cp |
A |
G |
3: 20,043,262 (GRCm39) |
T1017A |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,499,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,915,261 (GRCm39) |
V93M |
probably damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,787,328 (GRCm39) |
M183L |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,573,205 (GRCm39) |
L915I |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,333,645 (GRCm39) |
E146G |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,293 (GRCm39) |
S283G |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,832,296 (GRCm39) |
Y1543F |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,275 (GRCm39) |
|
probably null |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gjd3 |
A |
G |
11: 98,873,301 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm49368 |
T |
A |
7: 127,711,430 (GRCm39) |
C711* |
probably null |
Het |
| Gtf3c2 |
A |
G |
5: 31,330,341 (GRCm39) |
S210P |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,784,548 (GRCm39) |
Y1404C |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,507,372 (GRCm39) |
D128E |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,578,219 (GRCm39) |
D113E |
probably benign |
Het |
| Kcnd3 |
A |
G |
3: 105,366,933 (GRCm39) |
M268V |
probably benign |
Het |
| Kirrel3 |
G |
T |
9: 34,850,408 (GRCm39) |
G19V |
probably damaging |
Het |
| Klf17 |
T |
G |
4: 117,617,916 (GRCm39) |
Y147S |
possibly damaging |
Het |
| Leng1 |
C |
T |
7: 3,668,382 (GRCm39) |
R22H |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,876,037 (GRCm39) |
Y233* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,525,832 (GRCm39) |
V96A |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,644 (GRCm39) |
T797A |
possibly damaging |
Het |
| Nuf2 |
G |
T |
1: 169,332,097 (GRCm39) |
H399Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,623 (GRCm39) |
V766A |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,244 (GRCm39) |
D307E |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,266 (GRCm39) |
M109K |
possibly damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,544 (GRCm39) |
I103T |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,121 (GRCm39) |
Y169H |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,417,585 (GRCm39) |
D2522G |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,271 (GRCm39) |
D433G |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,691 (GRCm39) |
S12P |
probably benign |
Het |
| Ptpn23 |
T |
A |
9: 110,216,676 (GRCm39) |
Q1060L |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,574,914 (GRCm39) |
N710K |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,910,943 (GRCm39) |
V234A |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,414,612 (GRCm39) |
Q37R |
probably damaging |
Het |
| Slc35e3 |
A |
T |
10: 117,576,484 (GRCm39) |
S230T |
probably damaging |
Het |
| Slc39a2 |
T |
C |
14: 52,132,873 (GRCm39) |
V272A |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,181 (GRCm39) |
Y677F |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,301,213 (GRCm39) |
Y42H |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,774,782 (GRCm39) |
F102L |
probably benign |
Het |
| Sstr3 |
T |
C |
15: 78,424,717 (GRCm39) |
E10G |
probably benign |
Het |
| Tekt3 |
A |
T |
11: 62,985,486 (GRCm39) |
I431F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,855,025 (GRCm39) |
R778H |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,110 (GRCm39) |
V1875D |
probably damaging |
Het |
| Vmn2r29 |
A |
C |
7: 7,234,441 (GRCm39) |
I815S |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,552 (GRCm39) |
K577* |
probably null |
Het |
| Vps26c |
A |
C |
16: 94,299,928 (GRCm39) |
N275K |
probably damaging |
Het |
| Yes1 |
G |
A |
5: 32,802,430 (GRCm39) |
R115Q |
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 |
|
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 |
|
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 |
|
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'- ATGGACTGCTTCTGCCTTG -3'
(R):5'- GCATGTGATACTATTTGCCTGAC -3'
Sequencing Primer
(F):5'- GCTTCTGCCTTGGCTACTATG -3'
(R):5'- TCAGGGAGCCACATTGAA -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation