Incidental Mutation 'R4875:Catsperb'
| ID |
434639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
044392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4875 (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 101554244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 646
(N646I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055156
AA Change: N646I
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: N646I
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,521,189 (GRCm39) |
E119D |
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,390,811 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,011,515 (GRCm39) |
V1294A |
probably damaging |
Het |
| BB019430 |
A |
G |
10: 58,539,865 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Ccdc112 |
A |
G |
18: 46,429,356 (GRCm39) |
I114T |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,727,877 (GRCm39) |
L340P |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,653,817 (GRCm39) |
V85E |
probably damaging |
Het |
| Cnpy2 |
C |
A |
10: 128,161,964 (GRCm39) |
T79K |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,414,874 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Ctso |
C |
T |
3: 81,849,688 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,389,659 (GRCm39) |
M235I |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,995,860 (GRCm39) |
C314R |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,728,085 (GRCm39) |
N2928D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
C |
A |
6: 83,037,993 (GRCm39) |
D460E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,051,164 (GRCm39) |
C438R |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,112,299 (GRCm39) |
V21G |
probably damaging |
Het |
| Ero1b |
G |
A |
13: 12,619,325 (GRCm39) |
V440I |
probably damaging |
Het |
| Fpgt |
G |
A |
3: 154,793,550 (GRCm39) |
A159V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,714,229 (GRCm39) |
L123P |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,226 (GRCm39) |
R439W |
probably damaging |
Het |
| Gm4353 |
G |
C |
7: 115,683,648 (GRCm39) |
P49R |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,700,101 (GRCm39) |
A224T |
probably benign |
Het |
| Helz |
T |
A |
11: 107,528,560 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,010,021 (GRCm39) |
Y246C |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,892 (GRCm39) |
E549G |
probably benign |
Het |
| Krt9 |
T |
C |
11: 100,080,863 (GRCm39) |
I330V |
probably benign |
Het |
| Lair1 |
A |
T |
7: 4,032,033 (GRCm39) |
S25T |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,996 (GRCm39) |
I149V |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,422 (GRCm39) |
S143T |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,675,574 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,396,986 (GRCm39) |
V578M |
probably damaging |
Het |
| Mis18bp1 |
G |
A |
12: 65,208,209 (GRCm39) |
T168M |
probably benign |
Het |
| Mospd4 |
G |
T |
18: 46,598,804 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,379,114 (GRCm39) |
V626A |
probably damaging |
Het |
| Naa80 |
C |
T |
9: 107,460,818 (GRCm39) |
R238C |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,418,921 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
T |
C |
19: 4,062,653 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,301,858 (GRCm39) |
F211L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,467,993 (GRCm39) |
F123I |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,126 (GRCm39) |
M140K |
probably damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,326,450 (GRCm39) |
Y259F |
probably damaging |
Het |
| Osbpl11 |
G |
A |
16: 33,054,863 (GRCm39) |
V649I |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,331,652 (GRCm39) |
M144L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,205,688 (GRCm39) |
T2555A |
probably benign |
Het |
| Plat |
T |
A |
8: 23,258,466 (GRCm39) |
I23K |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,763 (GRCm39) |
T51M |
probably damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,957,742 (GRCm39) |
M233V |
probably benign |
Het |
| Prox1 |
A |
C |
1: 189,894,319 (GRCm39) |
F42C |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,835,978 (GRCm39) |
Q473L |
possibly damaging |
Het |
| Rims4 |
A |
T |
2: 163,707,443 (GRCm39) |
N127K |
probably null |
Het |
| Scn1a |
T |
C |
2: 66,158,820 (GRCm39) |
T367A |
possibly damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,898,800 (GRCm39) |
I579T |
possibly damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,962 (GRCm39) |
V172A |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,003,396 (GRCm39) |
L109Q |
probably damaging |
Het |
| Strap |
ACCTGCCCTCCT |
ACCT |
6: 137,726,316 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,038,343 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,206 (GRCm39) |
V15A |
probably damaging |
Het |
| Tgif2-ps2 |
A |
G |
17: 40,426,274 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc18 |
A |
T |
5: 142,750,932 (GRCm39) |
M1216K |
unknown |
Het |
| Tpst2 |
T |
A |
5: 112,457,687 (GRCm39) |
Y69* |
probably null |
Het |
| Tpx2 |
C |
A |
2: 152,735,535 (GRCm39) |
A721E |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,330,755 (GRCm39) |
T591A |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,203,042 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,556 (GRCm39) |
T118A |
possibly damaging |
Het |
| Unc13c |
T |
C |
9: 73,424,566 (GRCm39) |
T2017A |
probably damaging |
Het |
| Vmn1r59 |
G |
T |
7: 5,457,108 (GRCm39) |
N217K |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,367 (GRCm39) |
I624V |
probably damaging |
Het |
| Wdr4 |
A |
G |
17: 31,718,129 (GRCm39) |
V315A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,914,256 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,403 (GRCm39) |
W190R |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,674,940 (GRCm39) |
T180A |
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 |
|
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'- AGCCTTTCTGCTGAGAATTTTATAC -3'
(R):5'- CCGTGCCAAAGTTGTATAAGAAC -3'
Sequencing Primer
(F):5'- AGCTTTGCATATGACAAATTCTTAAC -3'
(R):5'- CCAAGAACCTGTTAGAAACTTCAGG -3'
|
| Posted On |
2016-10-18 |
Incidental Mutation