Incidental Mutation 'R7035:Catsperb'
| ID |
546625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
045136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7035 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101381593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 92
(T92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055156
AA Change: T92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: T92P
| 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 damaging
Transcript: ENSMUST00000221241
AA Change: T92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
A |
3: 68,777,272 (GRCm39) |
F78I |
probably benign |
Het |
| 1700102P08Rik |
A |
T |
9: 108,272,510 (GRCm39) |
D140V |
possibly damaging |
Het |
| 6430548M08Rik |
A |
T |
8: 120,879,225 (GRCm39) |
S208C |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,662,123 (GRCm39) |
T41K |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,129,769 (GRCm39) |
R375C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,990,694 (GRCm39) |
V433D |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,985,942 (GRCm39) |
C226S |
probably benign |
Het |
| Aldh3b2 |
A |
T |
19: 4,028,142 (GRCm39) |
M95L |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,790,573 (GRCm39) |
F842S |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,732 (GRCm39) |
F181S |
probably damaging |
Het |
| Apba1 |
G |
A |
19: 23,894,931 (GRCm39) |
D456N |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,507 (GRCm39) |
H400L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
C |
11: 100,918,183 (GRCm39) |
Q199H |
probably damaging |
Het |
| Atp8a1 |
C |
G |
5: 67,938,373 (GRCm39) |
G161A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,949,530 (GRCm39) |
Q61* |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,670 (GRCm39) |
I178K |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,202,419 (GRCm39) |
I292T |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,334,933 (GRCm39) |
S318T |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,079,007 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Cntn1 |
C |
A |
15: 92,212,392 (GRCm39) |
D851E |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,415,415 (GRCm39) |
D146G |
probably damaging |
Het |
| Crem |
G |
A |
18: 3,327,503 (GRCm39) |
T12I |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,730,574 (GRCm39) |
V824I |
probably damaging |
Het |
| Dnase2b |
C |
T |
3: 146,288,096 (GRCm39) |
C333Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,406,355 (GRCm39) |
F365I |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,163,374 (GRCm39) |
I1570F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,475,493 (GRCm39) |
C275S |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,102 (GRCm39) |
S1031A |
possibly damaging |
Het |
| Gga2 |
T |
C |
7: 121,588,939 (GRCm39) |
D596G |
probably damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,100 (GRCm39) |
Y365S |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,896,809 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm5478 |
A |
T |
15: 101,553,632 (GRCm39) |
I284N |
possibly damaging |
Het |
| Gnat1 |
A |
T |
9: 107,553,827 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,650,569 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,088,044 (GRCm39) |
I1554N |
|
Het |
| Mycbp2 |
T |
A |
14: 103,412,417 (GRCm39) |
T2519S |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,797,352 (GRCm39) |
V1604M |
possibly damaging |
Het |
| Mypop |
C |
T |
7: 18,725,922 (GRCm39) |
|
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,118,479 (GRCm39) |
V774E |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,814,678 (GRCm39) |
V262A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,113,965 (GRCm39) |
V637D |
probably damaging |
Het |
| Or1e16 |
T |
C |
11: 73,286,544 (GRCm39) |
I101M |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,061,784 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,140 (GRCm39) |
V72A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,201 (GRCm39) |
I424F |
possibly damaging |
Het |
| Phf7 |
A |
C |
14: 30,961,183 (GRCm39) |
W231G |
probably damaging |
Het |
| Plagl1 |
A |
G |
10: 13,003,977 (GRCm39) |
|
probably benign |
Het |
| Plat |
A |
T |
8: 23,262,327 (GRCm39) |
D117V |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,152,564 (GRCm39) |
Y180C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,654 (GRCm39) |
I1927T |
possibly damaging |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,764,133 (GRCm39) |
D446V |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,353,777 (GRCm39) |
Q15K |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,140,247 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,452,583 (GRCm39) |
S521T |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,326,620 (GRCm39) |
|
silent |
Het |
| Sardh |
T |
C |
2: 27,120,854 (GRCm39) |
D390G |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,359 (GRCm39) |
T375A |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,236,125 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,910,251 (GRCm39) |
V307D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,189,852 (GRCm39) |
C320R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,426,147 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
C |
T |
13: 41,310,973 (GRCm39) |
T645I |
unknown |
Het |
| Tpmt |
T |
C |
13: 47,193,584 (GRCm39) |
K72E |
probably damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,679,305 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,347 (GRCm39) |
T161M |
possibly damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,207 (GRCm39) |
H41L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,003,415 (GRCm39) |
I2900N |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,023 (GRCm39) |
S399P |
probably benign |
Het |
| Zfp692 |
T |
C |
11: 58,200,268 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ATGAGACTCACTAAAGACAGGAGTC -3'
(R):5'- TAACCAAAGCATCCTGGGG -3'
Sequencing Primer
(F):5'- GACAGGAGTCTTCACCAGC -3'
(R):5'- TCTGAATGGCCATGATGCAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation