Incidental Mutation 'R1989:Catsperb'
| ID |
223075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
040001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1989 (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 T
at 101568970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 881
(I881F)
|
| 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: I881F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: I881F
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,153,355 (GRCm39) |
M921T |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,355,276 (GRCm39) |
W36R |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,116,591 (GRCm39) |
V643D |
probably damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,879 (GRCm39) |
T302S |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,264 (GRCm39) |
N1795S |
probably benign |
Het |
| Ang |
T |
A |
14: 51,339,008 (GRCm39) |
C50S |
probably damaging |
Het |
| Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
| Asxl3 |
T |
C |
18: 22,585,420 (GRCm39) |
V115A |
probably damaging |
Het |
| B4galt5 |
A |
T |
2: 167,146,923 (GRCm39) |
W304R |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,965,652 (GRCm39) |
K1118E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,611,386 (GRCm39) |
Y335C |
probably damaging |
Het |
| Ccn1 |
A |
T |
3: 145,353,498 (GRCm39) |
Y355N |
probably benign |
Het |
| Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
| Cyp2f2 |
A |
G |
7: 26,828,628 (GRCm39) |
D90G |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,523,028 (GRCm39) |
E349G |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,512,793 (GRCm39) |
M134T |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,690,784 (GRCm39) |
H59R |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,151,021 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,045,842 (GRCm39) |
D89E |
probably damaging |
Het |
| Hip1r |
G |
T |
5: 124,127,761 (GRCm39) |
V90F |
probably damaging |
Het |
| Ifi213 |
C |
A |
1: 173,396,374 (GRCm39) |
|
probably null |
Het |
| Kcnj9 |
A |
G |
1: 172,153,716 (GRCm39) |
I136T |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,703,542 (GRCm39) |
S3P |
possibly damaging |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
G |
A |
7: 65,931,432 (GRCm39) |
S43L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,391,519 (GRCm39) |
|
probably null |
Het |
| Mad1l1 |
A |
G |
5: 140,289,425 (GRCm39) |
S167P |
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,605,179 (GRCm39) |
A64D |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,214,020 (GRCm39) |
M1T |
probably null |
Het |
| Mkrn2os |
G |
T |
6: 115,566,311 (GRCm39) |
T88K |
probably damaging |
Het |
| Mob3c |
T |
C |
4: 115,688,754 (GRCm39) |
Y96H |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,694,298 (GRCm39) |
I96N |
probably damaging |
Het |
| Mup17 |
T |
A |
4: 61,511,860 (GRCm39) |
Y138F |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,550 (GRCm39) |
I754V |
probably benign |
Het |
| Naa30 |
T |
A |
14: 49,415,597 (GRCm39) |
L289* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,080,921 (GRCm39) |
F292V |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,601,185 (GRCm39) |
N129Y |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,273,338 (GRCm39) |
E880G |
probably benign |
Het |
| Nsun6 |
G |
T |
2: 15,042,995 (GRCm39) |
N155K |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,407 (GRCm39) |
Y4N |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,422,943 (GRCm39) |
I265K |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,722 (GRCm39) |
I142N |
probably benign |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
| Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
| Or8d23 |
T |
C |
9: 38,842,171 (GRCm39) |
S235P |
possibly damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Ppp2r5d |
C |
T |
17: 46,995,025 (GRCm39) |
V559M |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,976 (GRCm39) |
Y177* |
probably null |
Het |
| Rnase10 |
A |
T |
14: 51,247,095 (GRCm39) |
I121L |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,551,896 (GRCm39) |
P431L |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,130 (GRCm39) |
V1194A |
possibly damaging |
Het |
| Scimp |
T |
C |
11: 70,682,402 (GRCm39) |
K105E |
possibly damaging |
Het |
| Scrt2 |
A |
T |
2: 151,924,007 (GRCm39) |
D13V |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,404 (GRCm39) |
S181G |
possibly damaging |
Het |
| Spata2 |
G |
A |
2: 167,326,234 (GRCm39) |
T195M |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,723,421 (GRCm39) |
A565V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,531,887 (GRCm39) |
I2715V |
probably benign |
Het |
| Sval1 |
A |
G |
6: 41,932,425 (GRCm39) |
T92A |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,910,781 (GRCm39) |
|
probably null |
Het |
| Tlr12 |
T |
C |
4: 128,510,862 (GRCm39) |
T463A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,902,351 (GRCm39) |
H945R |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,912,859 (GRCm39) |
D1791V |
probably damaging |
Het |
| Topaz1 |
C |
T |
9: 122,579,190 (GRCm39) |
T700I |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,978,708 (GRCm39) |
V796A |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,858,780 (GRCm39) |
|
probably null |
Het |
| Ttll4 |
G |
T |
1: 74,724,527 (GRCm39) |
V566L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,581,285 (GRCm39) |
N23203Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,601,131 (GRCm39) |
Y18781N |
probably damaging |
Het |
| Tuba3a |
T |
C |
6: 125,258,216 (GRCm39) |
N258S |
probably damaging |
Het |
| Upk1b |
A |
T |
16: 38,604,603 (GRCm39) |
W141R |
possibly damaging |
Het |
| Vars1 |
T |
C |
17: 35,230,814 (GRCm39) |
F567L |
possibly damaging |
Het |
| Vcpip1 |
G |
C |
1: 9,815,788 (GRCm39) |
A865G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,500 (GRCm39) |
F363L |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,661,201 (GRCm39) |
F10I |
probably benign |
Het |
| Wbp2 |
C |
T |
11: 115,971,047 (GRCm39) |
|
probably null |
Het |
| Yy1 |
T |
C |
12: 108,772,534 (GRCm39) |
L270P |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,418,268 (GRCm39) |
C2943* |
probably null |
Het |
| Zfp51 |
T |
A |
17: 21,676,582 (GRCm39) |
Y18N |
possibly 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 |
|
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'- CATCATCACAGAGTCAGGTCTC -3'
(R):5'- GTGTGTGCACATGAGTACATC -3'
Sequencing Primer
(F):5'- CTCTGAAATTACAGAAACTGAGTGG -3'
(R):5'- GTACTACTTCCTAGGGGTCAAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation