Incidental Mutation 'R9227:Catsperb'
| ID |
699947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
068984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9227 (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 C
at 101516053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 563
(I563T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055156
AA Change: I563T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: I563T
| 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: ENSMUST00000220820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221241
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
T |
10: 77,157,626 (GRCm39) |
F274I |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,271,974 (GRCm39) |
V1595I |
probably benign |
Het |
| Anxa6 |
A |
G |
11: 54,898,694 (GRCm39) |
V160A |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,645,692 (GRCm39) |
E706G |
unknown |
Het |
| Arhgap21 |
T |
C |
2: 20,860,469 (GRCm39) |
T1313A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,499,750 (GRCm39) |
C111S |
probably damaging |
Het |
| Atp6v0d2 |
T |
A |
4: 19,878,374 (GRCm39) |
M300L |
probably benign |
Het |
| C1ra |
T |
C |
6: 124,493,739 (GRCm39) |
C164R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,599,856 (GRCm39) |
Y1659C |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,737,748 (GRCm39) |
W386* |
probably null |
Het |
| Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
| Cd55b |
A |
T |
1: 130,350,619 (GRCm39) |
L26* |
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,933,638 (GRCm39) |
N759S |
probably benign |
Het |
| Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Chd7 |
C |
T |
4: 8,805,272 (GRCm39) |
S777L |
probably benign |
Het |
| Chrm3 |
C |
A |
13: 9,928,479 (GRCm39) |
V186L |
probably benign |
Het |
| Clrn2 |
A |
G |
5: 45,621,283 (GRCm39) |
T226A |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,383,138 (GRCm39) |
P1071S |
unknown |
Het |
| Dytn |
A |
T |
1: 63,686,611 (GRCm39) |
V353D |
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,411,317 (GRCm39) |
E155K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,831,705 (GRCm39) |
M285K |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,335,856 (GRCm39) |
K446R |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,853,384 (GRCm39) |
T119A |
unknown |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Fubp3 |
A |
G |
2: 31,502,564 (GRCm39) |
H449R |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,211 (GRCm39) |
I1241N |
probably damaging |
Het |
| Gabpb2 |
A |
T |
3: 95,111,998 (GRCm39) |
M77K |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,027,906 (GRCm39) |
I4K |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,327 (GRCm39) |
S313P |
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,385,941 (GRCm39) |
M1021K |
possibly damaging |
Het |
| Grid2ip |
G |
A |
5: 143,359,194 (GRCm39) |
R270Q |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,236 (GRCm39) |
E124G |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,752 (GRCm39) |
D95G |
probably benign |
Het |
| Ilkap |
A |
C |
1: 91,314,937 (GRCm39) |
I142S |
probably benign |
Het |
| Inpp5e |
C |
T |
2: 26,288,616 (GRCm39) |
R588H |
probably damaging |
Het |
| Kif1b |
A |
C |
4: 149,322,357 (GRCm39) |
M854R |
probably damaging |
Het |
| Lcn6 |
A |
T |
2: 25,570,107 (GRCm39) |
K91M |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,588,483 (GRCm39) |
S902R |
unknown |
Het |
| Lrig1 |
C |
A |
6: 94,607,113 (GRCm39) |
C160F |
probably damaging |
Het |
| Mapk13 |
T |
C |
17: 28,994,532 (GRCm39) |
I141T |
probably damaging |
Het |
| Mapkapk3 |
A |
G |
9: 107,137,354 (GRCm39) |
L175P |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,701,827 (GRCm39) |
V472A |
unknown |
Het |
| Mmp15 |
T |
C |
8: 96,092,959 (GRCm39) |
F113L |
probably benign |
Het |
| Msh2 |
T |
G |
17: 88,026,717 (GRCm39) |
S738A |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,250,718 (GRCm39) |
N367K |
probably benign |
Het |
| Nim1k |
C |
A |
13: 120,174,118 (GRCm39) |
V259F |
probably damaging |
Het |
| Nme8 |
T |
G |
13: 19,874,384 (GRCm39) |
I139L |
probably benign |
Het |
| Odam |
T |
C |
5: 88,034,457 (GRCm39) |
F46L |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or7a42 |
G |
A |
10: 78,791,929 (GRCm39) |
D297N |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,217 (GRCm39) |
L820P |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,954 (GRCm39) |
E341G |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Poglut1 |
A |
T |
16: 38,355,168 (GRCm39) |
D219E |
possibly damaging |
Het |
| Racgap1 |
A |
G |
15: 99,534,078 (GRCm39) |
S145P |
possibly damaging |
Het |
| Rasgef1a |
C |
T |
6: 118,066,110 (GRCm39) |
T441I |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,664,498 (GRCm39) |
T844A |
probably benign |
Het |
| Rbmyf9 |
T |
G |
Y: 3,774,819 (GRCm39) |
D5E |
probably damaging |
Het |
| Rell1 |
T |
C |
5: 64,097,105 (GRCm39) |
|
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,303 (GRCm39) |
F134S |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,699 (GRCm39) |
D632G |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,665,631 (GRCm39) |
W146R |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,098,755 (GRCm39) |
F796S |
possibly damaging |
Het |
| Slc24a5 |
G |
T |
2: 124,922,568 (GRCm39) |
G110V |
probably damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,391 (GRCm39) |
M44K |
probably damaging |
Het |
| Slc38a10 |
T |
A |
11: 119,996,781 (GRCm39) |
D772V |
probably benign |
Het |
| Thy1 |
C |
T |
9: 43,958,004 (GRCm39) |
T44I |
probably damaging |
Het |
| Tinagl1 |
G |
T |
4: 130,061,271 (GRCm39) |
S324Y |
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,093,436 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmco6 |
T |
C |
18: 36,874,719 (GRCm39) |
L402P |
probably damaging |
Het |
| Tnrc18 |
G |
T |
5: 142,773,392 (GRCm39) |
A479D |
|
Het |
| Uba7 |
T |
C |
9: 107,853,001 (GRCm39) |
V12A |
possibly damaging |
Het |
| Usp5 |
T |
C |
6: 124,795,599 (GRCm39) |
D598G |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,489,469 (GRCm39) |
V247I |
probably benign |
Het |
| Vpreb1b |
A |
G |
16: 17,798,801 (GRCm39) |
N96D |
probably damaging |
Het |
| Zcchc17 |
A |
T |
4: 130,230,928 (GRCm39) |
M87K |
probably 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 |
|
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 |
|
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 |
2022-02-07 |
Incidental Mutation