Incidental Mutation 'R1449:Catsperb'
| ID |
159157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
039504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101554456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 717
(T717A)
|
| 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: T717A
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: T717A
| 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: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,666 (GRCm39) |
N274D |
possibly damaging |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,689 (GRCm39) |
N47K |
probably damaging |
Het |
| Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,580 (GRCm39) |
T2776A |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adrb3 |
G |
A |
8: 27,717,415 (GRCm39) |
R345C |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,708,520 (GRCm39) |
V325A |
possibly damaging |
Het |
| Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,424 (GRCm39) |
N10S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,577,134 (GRCm39) |
E59G |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,340,263 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
G |
2: 27,347,028 (GRCm39) |
Y369H |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,361,408 (GRCm39) |
|
probably null |
Het |
| Camk4 |
A |
G |
18: 33,072,528 (GRCm39) |
D27G |
probably damaging |
Het |
| Camkk1 |
T |
G |
11: 72,924,710 (GRCm39) |
S308A |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,212,730 (GRCm39) |
S1563R |
probably damaging |
Het |
| Cep44 |
A |
T |
8: 56,993,985 (GRCm39) |
S197R |
probably benign |
Het |
| Col3a1 |
T |
A |
1: 45,360,771 (GRCm39) |
I67N |
unknown |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,304 (GRCm39) |
T165A |
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,695,502 (GRCm39) |
Y143C |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,185,711 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,908 (GRCm39) |
N3762D |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,653,521 (GRCm39) |
T1382S |
possibly damaging |
Het |
| Entpd3 |
A |
T |
9: 120,395,555 (GRCm39) |
R513W |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,120,738 (GRCm39) |
S132P |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,143,826 (GRCm39) |
I273V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,787,251 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,887,186 (GRCm39) |
V1253D |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,790 (GRCm39) |
K216* |
probably null |
Het |
| Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
| Kcnk2 |
G |
A |
1: 189,072,223 (GRCm39) |
S35L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,966,212 (GRCm39) |
Y402C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,241 (GRCm39) |
S484P |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,666,861 (GRCm39) |
|
probably null |
Het |
| Lhx8 |
G |
T |
3: 154,033,742 (GRCm39) |
S46* |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,159,813 (GRCm39) |
S42P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,261,585 (GRCm39) |
R1513Q |
probably damaging |
Het |
| Maml2 |
C |
A |
9: 13,531,980 (GRCm39) |
P398Q |
possibly damaging |
Het |
| Mast2 |
T |
C |
4: 116,166,210 (GRCm39) |
I1201V |
probably damaging |
Het |
| Mmp20 |
A |
T |
9: 7,642,769 (GRCm39) |
D201V |
probably damaging |
Het |
| Morn5 |
T |
A |
2: 35,947,092 (GRCm39) |
C123* |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 20,918,807 (GRCm39) |
K175E |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,689,372 (GRCm39) |
S302T |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,145,591 (GRCm39) |
Y217C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,089 (GRCm39) |
T109S |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,097,980 (GRCm39) |
Y909H |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,024 (GRCm39) |
C102R |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,691,378 (GRCm39) |
N290D |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,397 (GRCm39) |
F100Y |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,238 (GRCm39) |
D50V |
probably damaging |
Het |
| Or6c69b |
A |
C |
10: 129,626,723 (GRCm39) |
V245G |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,322,929 (GRCm39) |
H968R |
probably damaging |
Het |
| Pde1b |
T |
A |
15: 103,433,470 (GRCm39) |
I296N |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,627,930 (GRCm39) |
T172S |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,665,592 (GRCm39) |
V215A |
possibly damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pou6f2 |
G |
T |
13: 18,347,000 (GRCm39) |
Q31K |
probably damaging |
Het |
| Psd |
T |
A |
19: 46,313,250 (GRCm39) |
Y40F |
probably damaging |
Het |
| Rnf126 |
T |
C |
10: 79,597,448 (GRCm39) |
N155D |
probably benign |
Het |
| Rpl36-ps3 |
C |
A |
12: 12,962,032 (GRCm39) |
|
noncoding transcript |
Het |
| Rrp15 |
C |
A |
1: 186,468,465 (GRCm39) |
V184F |
possibly damaging |
Het |
| Rslcan18 |
G |
T |
13: 67,250,164 (GRCm39) |
L24M |
possibly damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,111 (GRCm39) |
I331T |
probably benign |
Het |
| Slamf7 |
A |
T |
1: 171,468,606 (GRCm39) |
N95K |
possibly damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,635,951 (GRCm39) |
Y339H |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,532,446 (GRCm39) |
N72D |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,231,568 (GRCm39) |
S604P |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,819 (GRCm39) |
T110M |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 99,015,220 (GRCm39) |
T116A |
probably damaging |
Het |
| Tor1b |
T |
C |
2: 30,845,893 (GRCm39) |
I190T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,800,138 (GRCm39) |
E357* |
probably null |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Ube2i |
T |
C |
17: 25,487,538 (GRCm39) |
D67G |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,203 (GRCm39) |
E50G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,124 (GRCm39) |
T38A |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,664,130 (GRCm39) |
S552P |
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 |
|
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 |
|
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'- gcaGTGACCCATCTCTCCAGCC -3'
(R):5'- CAGGGAGCCACATTGAATATCAAAGAGT -3'
Sequencing Primer
(F):5'- TCAGATCCCCTGCATGAGC -3'
(R):5'- AAAAGCAAGCTTACCTTTTGGA -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation