Incidental Mutation 'R1540:Catsperb'
ID |
171680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsperb
|
Ensembl Gene |
ENSMUSG00000047014 |
Gene Name |
cation channel sperm associated auxiliary subunit beta |
Synonyms |
4932415G16Rik |
MMRRC Submission |
039579-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1540 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101378589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 30
(R30Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
AlphaFold |
A2RTF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055156
AA Change: R30Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000052089 Gene: ENSMUSG00000047014 AA Change: R30Q
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 |
noncoding transcript
Transcript: ENSMUST00000220474
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221241
AA Change: R30Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221965
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
96% (72/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,574,384 (GRCm39) |
C767R |
probably benign |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,551,775 (GRCm39) |
I644N |
probably benign |
Het |
Asb16 |
A |
G |
11: 102,163,402 (GRCm39) |
I131V |
probably benign |
Het |
Atp6v0a2 |
C |
A |
5: 124,784,638 (GRCm39) |
A307D |
probably damaging |
Het |
C1qtnf1 |
C |
T |
11: 118,338,749 (GRCm39) |
H140Y |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,347,865 (GRCm39) |
D741V |
probably damaging |
Het |
Caprin2 |
T |
A |
6: 148,777,969 (GRCm39) |
T211S |
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,283,037 (GRCm39) |
E89G |
possibly damaging |
Het |
Casz1 |
T |
A |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
Ccdc102a |
A |
T |
8: 95,634,341 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
G |
T |
8: 46,395,362 (GRCm39) |
E418* |
probably null |
Het |
Ccdc90b |
C |
T |
7: 92,231,024 (GRCm39) |
A210V |
probably benign |
Het |
Cdadc1 |
G |
T |
14: 59,823,532 (GRCm39) |
A320E |
probably damaging |
Het |
Cdadc1 |
T |
A |
14: 59,823,541 (GRCm39) |
Q317L |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,567,498 (GRCm39) |
W1396L |
probably damaging |
Het |
Col4a6 |
T |
C |
X: 140,010,854 (GRCm39) |
T129A |
probably damaging |
Het |
Ctcfl |
C |
T |
2: 172,954,141 (GRCm39) |
D319N |
probably benign |
Het |
Dclk1 |
T |
C |
3: 55,385,244 (GRCm39) |
S45P |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,999,726 (GRCm39) |
I5581T |
probably benign |
Het |
Evi2 |
T |
C |
11: 79,406,412 (GRCm39) |
I388V |
probably benign |
Het |
Fbxl5 |
A |
T |
5: 43,915,978 (GRCm39) |
V435E |
possibly damaging |
Het |
Fig4 |
A |
T |
10: 41,064,582 (GRCm39) |
M887K |
possibly damaging |
Het |
Glt8d1 |
G |
A |
14: 30,733,549 (GRCm39) |
V345I |
probably benign |
Het |
Gm5709 |
T |
C |
3: 59,526,073 (GRCm39) |
|
noncoding transcript |
Het |
Hsp90b1 |
A |
G |
10: 86,529,906 (GRCm39) |
F264L |
probably damaging |
Het |
Id3 |
A |
G |
4: 135,871,250 (GRCm39) |
S21G |
possibly damaging |
Het |
Ighe |
T |
A |
12: 113,235,066 (GRCm39) |
N365Y |
unknown |
Het |
Il17rd |
T |
G |
14: 26,821,915 (GRCm39) |
M403R |
probably damaging |
Het |
Ints10 |
A |
G |
8: 69,249,365 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
T |
A |
3: 107,352,743 (GRCm39) |
|
probably null |
Het |
Kctd19 |
A |
G |
8: 106,114,511 (GRCm39) |
S517P |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,821,944 (GRCm39) |
F2964L |
probably benign |
Het |
Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,990 (GRCm39) |
K405R |
probably benign |
Het |
Lyst |
T |
A |
13: 13,809,686 (GRCm39) |
M452K |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,273 (GRCm39) |
L677P |
probably benign |
Het |
Mrps27 |
T |
A |
13: 99,541,558 (GRCm39) |
F221I |
probably benign |
Het |
Nhlrc1 |
C |
T |
13: 47,167,820 (GRCm39) |
V146M |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,772 (GRCm39) |
C895* |
probably null |
Het |
Nod1 |
T |
C |
6: 54,920,960 (GRCm39) |
T453A |
probably benign |
Het |
Nodal |
T |
C |
10: 61,258,764 (GRCm39) |
V67A |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,184,440 (GRCm39) |
L381P |
probably damaging |
Het |
Or13c25 |
T |
C |
4: 52,910,996 (GRCm39) |
D266G |
probably benign |
Het |
Or2b2b |
T |
A |
13: 21,858,700 (GRCm39) |
Q138L |
probably benign |
Het |
Or9e1 |
T |
A |
11: 58,732,477 (GRCm39) |
M179K |
probably benign |
Het |
P2ry14 |
T |
A |
3: 59,022,686 (GRCm39) |
K267M |
probably benign |
Het |
Pcdh1 |
T |
C |
18: 38,322,779 (GRCm39) |
N1018S |
probably benign |
Het |
Pkn3 |
G |
A |
2: 29,974,703 (GRCm39) |
V406I |
probably damaging |
Het |
Prkcb |
C |
T |
7: 122,226,916 (GRCm39) |
T634I |
probably damaging |
Het |
Psme2b |
T |
A |
11: 48,836,209 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
A |
G |
3: 100,967,970 (GRCm39) |
I541T |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,307,746 (GRCm39) |
V684A |
probably benign |
Het |
Rbbp5 |
C |
T |
1: 132,422,020 (GRCm39) |
R307* |
probably null |
Het |
Rcor1 |
T |
A |
12: 111,070,037 (GRCm39) |
|
probably benign |
Het |
Rlbp1 |
C |
T |
7: 79,029,808 (GRCm39) |
A142T |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,560,305 (GRCm39) |
E581G |
probably null |
Het |
Sars1 |
A |
T |
3: 108,340,461 (GRCm39) |
V155E |
probably benign |
Het |
Sec31a |
G |
C |
5: 100,523,178 (GRCm39) |
P569A |
probably damaging |
Het |
Selenof |
A |
T |
3: 144,300,685 (GRCm39) |
K111* |
probably null |
Het |
Serpinb7 |
C |
T |
1: 107,355,998 (GRCm39) |
A7V |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,720,409 (GRCm39) |
I204N |
probably damaging |
Het |
Spry4 |
T |
G |
18: 38,734,740 (GRCm39) |
|
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,328,751 (GRCm39) |
N261S |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,937,804 (GRCm39) |
F192S |
probably benign |
Het |
Tnr |
T |
A |
1: 159,677,675 (GRCm39) |
I20N |
probably damaging |
Het |
Ttll5 |
C |
T |
12: 85,938,982 (GRCm39) |
Q427* |
probably null |
Het |
Vps45 |
C |
T |
3: 95,955,658 (GRCm39) |
A111T |
probably damaging |
Het |
Zfp395 |
T |
C |
14: 65,630,523 (GRCm39) |
S358P |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,210,740 (GRCm39) |
V766A |
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 |
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'- GCCCAAGAAGTTGTTCCTGACTCC -3'
(R):5'- ATGGCTACCCAGGTTGCTCAATG -3'
Sequencing Primer
(F):5'- ttctgactattgatcctccttcc -3'
(R):5'- CCCAGGTTGCTCAATGCTAAATG -3'
|
Posted On |
2014-04-13 |