Incidental Mutation 'R6149:Catsperb'
| ID |
489089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
044296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6149 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101516098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 578
(I578K)
|
| 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: I578K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: I578K
| 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: ENSMUST00000103870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221965
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
A |
1: 161,777,211 (GRCm39) |
R115S |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,752,018 (GRCm39) |
K589E |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,330,893 (GRCm39) |
L74Q |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,842,451 (GRCm39) |
I77V |
probably benign |
Het |
| Best2 |
T |
C |
8: 85,739,896 (GRCm39) |
E57G |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Chsy1 |
A |
G |
7: 65,775,133 (GRCm39) |
Y154C |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,090,270 (GRCm39) |
V74A |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,638,248 (GRCm39) |
S49G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,272,048 (GRCm39) |
Y632H |
unknown |
Het |
| Ern1 |
C |
A |
11: 106,296,641 (GRCm39) |
E770* |
probably null |
Het |
| Fam114a2 |
A |
C |
11: 57,378,415 (GRCm39) |
V450G |
probably benign |
Het |
| Fgf15 |
C |
T |
7: 144,453,506 (GRCm39) |
Q125* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,458,762 (GRCm39) |
S2036T |
probably damaging |
Het |
| Fxr2 |
G |
A |
11: 69,540,030 (GRCm39) |
V296I |
probably benign |
Het |
| Gm15264 |
C |
A |
3: 94,640,736 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
A |
T |
1: 173,421,581 (GRCm39) |
S103T |
probably benign |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,472 (GRCm39) |
Q57H |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,530,969 (GRCm39) |
Y435C |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,641 (GRCm39) |
W799R |
probably damaging |
Het |
| Lnp1 |
C |
T |
16: 56,737,735 (GRCm39) |
E118K |
probably benign |
Het |
| Lrif1 |
A |
C |
3: 106,639,643 (GRCm39) |
K243Q |
possibly damaging |
Het |
| Lrp1b |
G |
T |
2: 40,765,165 (GRCm39) |
|
probably null |
Het |
| Lvrn |
G |
A |
18: 47,017,499 (GRCm39) |
V610I |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,074,679 (GRCm39) |
K67R |
possibly damaging |
Het |
| Midn |
T |
C |
10: 79,990,291 (GRCm39) |
S278P |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,377,885 (GRCm39) |
V35A |
possibly damaging |
Het |
| Nynrin |
A |
T |
14: 56,091,780 (GRCm39) |
Q32L |
possibly damaging |
Het |
| Oog1 |
C |
T |
12: 87,653,043 (GRCm39) |
T113I |
possibly damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,628 (GRCm39) |
L139P |
probably damaging |
Het |
| Or10j3 |
G |
T |
1: 173,031,582 (GRCm39) |
V220F |
probably benign |
Het |
| Or4x11 |
C |
T |
2: 89,867,860 (GRCm39) |
A199V |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,723 (GRCm39) |
I195F |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,807 (GRCm39) |
I87V |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,717,314 (GRCm39) |
V386I |
probably benign |
Het |
| Patj |
A |
G |
4: 98,312,562 (GRCm39) |
N300S |
possibly damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,612,208 (GRCm39) |
D389E |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,939 (GRCm39) |
I699V |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,882,771 (GRCm39) |
V790A |
probably benign |
Het |
| Plppr4 |
A |
T |
3: 117,116,043 (GRCm39) |
C605S |
probably benign |
Het |
| Ppl |
G |
A |
16: 4,925,460 (GRCm39) |
Q60* |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,586,810 (GRCm39) |
K52R |
possibly damaging |
Het |
| Pramel29 |
A |
G |
4: 143,933,983 (GRCm39) |
S375P |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,319,780 (GRCm39) |
E217K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,892 (GRCm39) |
I560T |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,683,903 (GRCm39) |
S3054G |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,046,666 (GRCm39) |
W293R |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,067,771 (GRCm39) |
S435T |
possibly damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,540,401 (GRCm39) |
M85I |
probably benign |
Het |
| Stk36 |
T |
C |
1: 74,673,388 (GRCm39) |
S1094P |
probably benign |
Het |
| Tctn1 |
A |
T |
5: 122,384,649 (GRCm39) |
Y393N |
probably benign |
Het |
| Tex9 |
C |
T |
9: 72,369,282 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,899,942 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
A |
T |
16: 45,494,268 (GRCm39) |
C412* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,396,934 (GRCm39) |
T399A |
probably benign |
Het |
| Trim25 |
T |
A |
11: 88,906,362 (GRCm39) |
V387D |
probably benign |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vill |
T |
G |
9: 118,887,482 (GRCm39) |
V82G |
possibly damaging |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,054 (GRCm39) |
D261G |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,767,796 (GRCm39) |
T567I |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,786,400 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zc3h11a |
G |
A |
1: 133,566,613 (GRCm39) |
R69* |
probably null |
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 |
|
|
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'- ACCCTCCTGCAAAGGTACAG -3'
(R):5'- ACTGTATCTAGTTCTACTAGGAAAGC -3'
Sequencing Primer
(F):5'- TACAGAACCTTCAAACTGGGG -3'
(R):5'- GGAACATGTACAAAATGCACCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation