Incidental Mutation 'R8021:Catsperb'
| ID |
617388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
067460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101554322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 672
(N672T)
|
| 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: N672T
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: N672T
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
| A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
| Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
| Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
| Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
| Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
| Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
| Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
| Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
| Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
| Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
| Grik1 |
C |
T |
16: 87,711,110 (GRCm39) |
V832I |
|
Het |
| Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
| Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
| Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,110,463 (GRCm39) |
T543A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
| Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
| Mast3 |
C |
T |
8: 71,240,896 (GRCm39) |
G218S |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
| Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
| Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
| Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,596,840 (GRCm39) |
S189G |
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
| Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
| Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
| Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
| Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
| Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
| Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
| Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
| Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
| Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
| Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
| Ttc41 |
C |
A |
10: 86,569,578 (GRCm39) |
T652N |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
| Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
| Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
| Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
probably damaging |
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 |
|
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 |
|
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'- GGAAAATGTTCTGAGGCTATGATC -3'
(R):5'- CAATCAGGGAGCCACATTGAATATC -3'
Sequencing Primer
(F):5'- GTTAATTATGATCACAGTTGCTT -3'
(R):5'- AGCAAGCTTACCTTTTGGAATAATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation