Incidental Mutation 'R6869:Catsperb'
| ID |
536103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
044966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6869 (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 C
at 101446996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 208
(F208S)
|
| 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: F208S
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: F208S
| 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: F208S
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,507,042 (GRCm39) |
|
probably null |
Het |
| Ankdd1b |
A |
T |
13: 96,580,799 (GRCm39) |
N166K |
possibly damaging |
Het |
| Arhgap30 |
G |
T |
1: 171,236,623 (GRCm39) |
R999L |
probably damaging |
Het |
| Bnc2 |
T |
A |
4: 84,211,733 (GRCm39) |
D212V |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,075,143 (GRCm39) |
I357T |
probably benign |
Het |
| Cc2d2b |
T |
A |
19: 40,797,898 (GRCm39) |
H1105Q |
probably benign |
Het |
| Chchd6 |
T |
C |
6: 89,572,478 (GRCm39) |
D17G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,650 (GRCm39) |
S1855G |
probably benign |
Het |
| Cpe |
A |
G |
8: 65,072,461 (GRCm39) |
V143A |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,557,113 (GRCm39) |
V770D |
possibly damaging |
Het |
| Cyp1a1 |
A |
T |
9: 57,610,067 (GRCm39) |
M494L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,320,297 (GRCm39) |
N3924I |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,481 (GRCm39) |
E76G |
probably damaging |
Het |
| Fam91a1 |
T |
A |
15: 58,303,117 (GRCm39) |
V342E |
probably benign |
Het |
| Fastkd1 |
G |
A |
2: 69,533,104 (GRCm39) |
A421V |
probably benign |
Het |
| Fgf20 |
T |
C |
8: 40,734,189 (GRCm39) |
Y64C |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,442 (GRCm39) |
N847K |
probably benign |
Het |
| Gm4922 |
A |
T |
10: 18,660,263 (GRCm39) |
I153K |
probably damaging |
Het |
| Gm6619 |
T |
C |
6: 131,463,401 (GRCm39) |
I6T |
unknown |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,537 (GRCm39) |
Y199H |
probably damaging |
Het |
| Hdac7 |
C |
A |
15: 97,694,057 (GRCm39) |
L737F |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,929,079 (GRCm39) |
N121D |
probably benign |
Het |
| Itga2 |
G |
A |
13: 115,012,073 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
A |
G |
8: 129,446,516 (GRCm39) |
D391G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lbx1 |
T |
A |
19: 45,223,390 (GRCm39) |
S93C |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,126 (GRCm39) |
M367T |
probably benign |
Het |
| Lrrc43 |
G |
A |
5: 123,642,339 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
C |
T |
7: 80,012,693 (GRCm39) |
G574D |
probably benign |
Het |
| Mier2 |
T |
G |
10: 79,378,503 (GRCm39) |
K343T |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,260,810 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,535,691 (GRCm39) |
Q675R |
possibly damaging |
Het |
| Ncan |
A |
T |
8: 70,560,557 (GRCm39) |
H803Q |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,324,334 (GRCm39) |
V723A |
probably damaging |
Het |
| Nectin3 |
G |
A |
16: 46,215,506 (GRCm39) |
R79C |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,248,583 (GRCm39) |
E1735G |
probably benign |
Het |
| Nrros |
A |
G |
16: 31,963,249 (GRCm39) |
L220S |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,075 (GRCm39) |
V112M |
possibly damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
| Oxa1l |
C |
T |
14: 54,604,195 (GRCm39) |
P152S |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,484,174 (GRCm39) |
Y818H |
unknown |
Het |
| Pik3cb |
A |
T |
9: 98,942,312 (GRCm39) |
S682T |
probably benign |
Het |
| Ppp1r3a |
A |
C |
6: 14,754,825 (GRCm39) |
S141A |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,349,055 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
T |
C |
11: 33,463,074 (GRCm39) |
|
probably benign |
Het |
| Rcbtb1 |
T |
C |
14: 59,455,051 (GRCm39) |
V95A |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 101,010,644 (GRCm39) |
|
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,056 (GRCm39) |
L207P |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,860 (GRCm39) |
Y75C |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,520,761 (GRCm39) |
D763G |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,024,810 (GRCm39) |
V596E |
possibly damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,355 (GRCm39) |
I297T |
probably damaging |
Het |
| Topors |
A |
C |
4: 40,261,201 (GRCm39) |
N694K |
unknown |
Het |
| Tymp |
T |
C |
15: 89,260,894 (GRCm39) |
R20G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,194,538 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,079,331 (GRCm39) |
Q1636L |
probably benign |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,676 (GRCm39) |
M96V |
probably benign |
Het |
| Wfdc8 |
C |
T |
2: 164,441,012 (GRCm39) |
D244N |
possibly damaging |
Het |
| Zbtb49 |
G |
T |
5: 38,371,694 (GRCm39) |
N62K |
probably damaging |
Het |
| Zfp579 |
G |
T |
7: 4,997,460 (GRCm39) |
D150E |
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 |
|
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'- GAATGCCTGTTTATAGCAGATAGATGG -3'
(R):5'- CACACCATAGATTAGAAACAGTGAG -3'
Sequencing Primer
(F):5'- ctgtcagttctagtcaacc -3'
(R):5'- GTGAGCTCTTTAGCAAAGT -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation