Incidental Mutation 'R6302:Catsperb'
| ID |
509303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
044467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101554402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 699
(S699P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055156
AA Change: S699P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: S699P
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221965
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
T |
4: 144,396,760 (GRCm39) |
S324* |
probably null |
Het |
| Actl11 |
T |
G |
9: 107,806,772 (GRCm39) |
V365G |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,317,227 (GRCm39) |
D531V |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,728 (GRCm39) |
S2354P |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,684,221 (GRCm39) |
W514R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,589 (GRCm39) |
V266E |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,167,634 (GRCm39) |
I1345T |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,801,587 (GRCm39) |
M355I |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,140,872 (GRCm39) |
I3161L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,244,604 (GRCm39) |
T1257A |
probably damaging |
Het |
| Cnnm4 |
C |
T |
1: 36,539,036 (GRCm39) |
T638I |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,646 (GRCm39) |
D1925G |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,936 (GRCm39) |
T86A |
probably damaging |
Het |
| Cyp3a63-ps |
A |
G |
5: 145,564,847 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah14 |
T |
A |
1: 181,428,771 (GRCm39) |
I259N |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,981 (GRCm39) |
D22G |
probably benign |
Het |
| Epn2 |
T |
G |
11: 61,437,312 (GRCm39) |
T87P |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,874,578 (GRCm39) |
L81P |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,323,970 (GRCm39) |
D221E |
probably damaging |
Het |
| Gm8356 |
T |
C |
14: 17,691,275 (GRCm39) |
Y130C |
probably damaging |
Het |
| Gpr151 |
T |
G |
18: 42,712,459 (GRCm39) |
K73T |
probably damaging |
Het |
| Helq |
A |
C |
5: 100,946,305 (GRCm39) |
V12G |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,806 (GRCm39) |
T74A |
probably benign |
Het |
| Kirrel3 |
G |
A |
9: 34,919,045 (GRCm39) |
V234I |
probably damaging |
Het |
| Kxd1 |
T |
A |
8: 70,972,713 (GRCm39) |
|
probably null |
Het |
| Lif |
T |
C |
11: 4,218,924 (GRCm39) |
Y68H |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,314 (GRCm39) |
Q406R |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,830,527 (GRCm39) |
M86L |
probably benign |
Het |
| Mei1 |
T |
A |
15: 81,987,439 (GRCm39) |
Y834* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,320,319 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,777,065 (GRCm39) |
I2319T |
possibly damaging |
Het |
| Myo7b |
T |
G |
18: 32,127,439 (GRCm39) |
D621A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,426,351 (GRCm39) |
D254G |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,024,921 (GRCm39) |
R560G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,464 (GRCm39) |
F265L |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,852,926 (GRCm39) |
L208H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,910 (GRCm39) |
T312S |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,610,097 (GRCm39) |
S390G |
probably damaging |
Het |
| Plcxd3 |
C |
T |
15: 4,546,239 (GRCm39) |
T81M |
probably damaging |
Het |
| Pmf1 |
C |
T |
3: 88,307,017 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
T |
C |
11: 70,825,947 (GRCm39) |
V739A |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,142,451 (GRCm39) |
D313G |
possibly damaging |
Het |
| Rpia |
C |
T |
6: 70,750,485 (GRCm39) |
V216I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
A |
6: 113,712,167 (GRCm39) |
H56L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,817 (GRCm39) |
V1733D |
probably damaging |
Het |
| Sim2 |
G |
A |
16: 93,898,089 (GRCm39) |
A108T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,479 (GRCm39) |
D665G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,383,849 (GRCm39) |
V180E |
probably damaging |
Het |
| Smarcad1 |
T |
G |
6: 65,052,122 (GRCm39) |
N38K |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,709,091 (GRCm39) |
T45A |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,432 (GRCm39) |
S714P |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,158 (GRCm39) |
S108T |
possibly damaging |
Het |
| Tbl3 |
T |
C |
17: 24,923,645 (GRCm39) |
K256E |
probably benign |
Het |
| Tcam1 |
T |
G |
11: 106,177,276 (GRCm39) |
C423G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,592,662 (GRCm39) |
C231R |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,365,397 (GRCm39) |
P337S |
probably damaging |
Het |
| Vmn2r83 |
A |
C |
10: 79,304,837 (GRCm39) |
T16P |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,182,189 (GRCm39) |
F589S |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,961 (GRCm39) |
T410A |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,742,726 (GRCm39) |
T4A |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,122,438 (GRCm39) |
L268P |
probably damaging |
Het |
| Zbtb41 |
C |
A |
1: 139,357,027 (GRCm39) |
N427K |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,771 (GRCm39) |
T414A |
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 |
|
|
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'- ATCTTCAGATCCCCTGCATG -3'
(R):5'- CAGGGAGCCACATTGAATATCAAAG -3'
Sequencing Primer
(F):5'- GATCCCCTGCATGAGCTTAAATC -3'
(R):5'- AGCAAGCTTACCTTTTGGAATAATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation