Incidental Mutation 'R4897:Catsperb'
| ID |
375831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
042501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101569025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 899
(N899I)
|
| 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: N899I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: N899I
| 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 |
0.0844 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,266,309 (GRCm39) |
M120I |
probably damaging |
Het |
| 4933427D14Rik |
A |
T |
11: 72,082,342 (GRCm39) |
L328Q |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,709,704 (GRCm39) |
|
probably null |
Het |
| Ankrd46 |
A |
T |
15: 36,484,279 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
A |
T |
8: 3,494,979 (GRCm39) |
M413L |
probably benign |
Het |
| Atp6v1e1 |
G |
A |
6: 120,781,044 (GRCm39) |
T87M |
probably null |
Het |
| Bap1 |
T |
C |
14: 30,980,402 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
A |
G |
12: 112,929,507 (GRCm39) |
L385P |
probably benign |
Het |
| C1qtnf1 |
A |
T |
11: 118,338,938 (GRCm39) |
N203Y |
probably damaging |
Het |
| Ccnjl |
A |
C |
11: 43,470,718 (GRCm39) |
D162A |
probably damaging |
Het |
| Cd248 |
A |
C |
19: 5,119,195 (GRCm39) |
I348L |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,293,029 (GRCm39) |
T265A |
probably benign |
Het |
| Cdca5 |
T |
A |
19: 6,140,427 (GRCm39) |
L196* |
probably null |
Het |
| Cdk4 |
T |
A |
10: 126,900,444 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,177,999 (GRCm39) |
E105* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,600 (GRCm39) |
D1404E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,989,496 (GRCm39) |
Y3308C |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,969,419 (GRCm39) |
Y2260D |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,159,001 (GRCm39) |
S1720A |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,754,947 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,848,597 (GRCm39) |
I66V |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,843,158 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,034,781 (GRCm39) |
Y2811F |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,306,110 (GRCm39) |
M310T |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,892,355 (GRCm39) |
C844S |
probably benign |
Het |
| Gas2l2 |
C |
A |
11: 83,320,041 (GRCm39) |
V72F |
probably damaging |
Het |
| Gm14401 |
T |
A |
2: 176,778,573 (GRCm39) |
C220S |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,619,261 (GRCm39) |
V73E |
probably benign |
Het |
| Idi2l |
T |
G |
13: 8,990,637 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
G |
T |
2: 62,465,358 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,138,048 (GRCm39) |
E833G |
probably damaging |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Ldb1 |
G |
A |
19: 46,023,132 (GRCm39) |
A217V |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,755,955 (GRCm39) |
T577A |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,600,711 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,298,474 (GRCm39) |
P2187S |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,323,952 (GRCm39) |
D1096E |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,573,654 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,819,559 (GRCm39) |
I152F |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,803,800 (GRCm39) |
R2060G |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,541,107 (GRCm39) |
C44* |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,100,378 (GRCm39) |
D1468G |
probably damaging |
Het |
| Or1j16 |
T |
C |
2: 36,530,906 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,476 (GRCm39) |
E102G |
probably benign |
Het |
| Or5d46 |
C |
A |
2: 88,174,686 (GRCm39) |
C129F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,482 (GRCm39) |
D121G |
probably damaging |
Het |
| P2rx3 |
G |
A |
2: 84,855,270 (GRCm39) |
T62I |
probably damaging |
Het |
| Pabpc4l |
G |
T |
3: 46,401,578 (GRCm39) |
T22K |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,108,646 (GRCm39) |
D557G |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,298 (GRCm39) |
K608R |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,939 (GRCm39) |
S369G |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 148,004,736 (GRCm39) |
I455V |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,099,219 (GRCm39) |
E1574D |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,680,472 (GRCm39) |
L96H |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,583 (GRCm39) |
S904P |
probably benign |
Het |
| Rps6ka4 |
C |
T |
19: 6,815,467 (GRCm39) |
V176I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,771,459 (GRCm39) |
M1K |
probably null |
Het |
| Serinc4 |
T |
A |
2: 121,282,905 (GRCm39) |
Y419F |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,056 (GRCm39) |
M192K |
possibly damaging |
Het |
| Spata21 |
T |
A |
4: 140,832,261 (GRCm39) |
M474K |
probably damaging |
Het |
| Stpg1 |
T |
C |
4: 135,246,676 (GRCm39) |
S135P |
possibly damaging |
Het |
| Tdrkh |
A |
G |
3: 94,336,671 (GRCm39) |
D481G |
probably damaging |
Het |
| Ube2e1 |
A |
C |
14: 18,285,268 (GRCm38) |
S68R |
probably damaging |
Het |
| Vcpip1 |
A |
C |
1: 9,817,572 (GRCm39) |
N270K |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,650,675 (GRCm39) |
F154L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,153,684 (GRCm39) |
|
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,703 (GRCm39) |
V885L |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,125,629 (GRCm39) |
V281D |
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,143 (GRCm39) |
I119N |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,608 (GRCm39) |
R310C |
probably benign |
Het |
| Zfp760 |
G |
A |
17: 21,942,229 (GRCm39) |
C468Y |
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 |
|
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'- ACATCATCACAGAGTCAGGTC -3'
(R):5'- TGTGTGCACATGAGTACATCTG -3'
Sequencing Primer
(F):5'- CTCTGAAATTACAGAAACTGAGTGG -3'
(R):5'- GTACTACTTCCTAGGGGTCAAGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation