Incidental Mutation 'R7413:Catsperb'
| ID |
575236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101447307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 269
(R269L)
|
| 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: R269L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: R269L
| 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: R269L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
A |
T |
4: 111,514,495 (GRCm39) |
D502V |
probably benign |
Het |
| Akap5 |
T |
A |
12: 76,375,678 (GRCm39) |
V370E |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,288 (GRCm39) |
C1844R |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,831,542 (GRCm39) |
K1191E |
probably benign |
Het |
| Bsn |
C |
T |
9: 108,016,690 (GRCm39) |
R107Q |
possibly damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,804 (GRCm39) |
S156P |
unknown |
Het |
| Cdh16 |
C |
T |
8: 105,346,572 (GRCm39) |
A241T |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,972 (GRCm39) |
S1367P |
probably damaging |
Het |
| Cds2 |
C |
T |
2: 132,135,235 (GRCm39) |
P42L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,245,431 (GRCm39) |
Y61H |
possibly damaging |
Het |
| Dclre1a |
G |
A |
19: 56,531,082 (GRCm39) |
P755S |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,670 (GRCm39) |
M233K |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,187,333 (GRCm39) |
Y474C |
probably damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,838 (GRCm39) |
M389K |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,457 (GRCm39) |
F181S |
probably damaging |
Het |
| Epor |
G |
A |
9: 21,874,776 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
C |
A |
13: 62,985,067 (GRCm39) |
V285L |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,452,258 (GRCm39) |
D1694V |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,882,339 (GRCm39) |
M98K |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,230 (GRCm39) |
S80P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gne |
T |
C |
4: 44,044,857 (GRCm39) |
N426D |
probably benign |
Het |
| Ifne |
A |
T |
4: 88,797,840 (GRCm39) |
*193R |
probably null |
Het |
| Igf2r |
G |
T |
17: 12,917,115 (GRCm39) |
S1595* |
probably null |
Het |
| Krt26 |
C |
T |
11: 99,225,887 (GRCm39) |
M226I |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,288,568 (GRCm39) |
V805I |
probably benign |
Het |
| Lrrc57 |
C |
A |
2: 120,436,577 (GRCm39) |
R177L |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,083 (GRCm39) |
E627G |
probably benign |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,069,647 (GRCm39) |
V133E |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,998,971 (GRCm39) |
T644A |
probably benign |
Het |
| Meis1 |
T |
A |
11: 18,938,357 (GRCm39) |
D218V |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,768,970 (GRCm39) |
E1439G |
|
Het |
| Naa12 |
T |
C |
18: 80,254,874 (GRCm39) |
V56A |
possibly damaging |
Het |
| Nckipsd |
G |
A |
9: 108,691,280 (GRCm39) |
V401I |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,092,669 (GRCm39) |
I655V |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,778,919 (GRCm39) |
I107F |
probably damaging |
Het |
| Or4k42 |
A |
C |
2: 111,319,933 (GRCm39) |
I190R |
probably benign |
Het |
| Or52n3 |
A |
T |
7: 104,530,057 (GRCm39) |
I48F |
probably benign |
Het |
| Or5p51 |
T |
C |
7: 107,444,721 (GRCm39) |
D73G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,945,704 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
G |
3: 49,699,232 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,975 (GRCm39) |
K312* |
probably null |
Het |
| Plekhh2 |
A |
T |
17: 84,873,724 (GRCm39) |
E336D |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,165,076 (GRCm39) |
S49T |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,927 (GRCm39) |
I1035V |
probably benign |
Het |
| Rlf |
C |
T |
4: 121,007,297 (GRCm39) |
G671D |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,607,404 (GRCm39) |
Q275R |
probably benign |
Het |
| Slc10a1 |
G |
T |
12: 81,007,396 (GRCm39) |
F128L |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,357 (GRCm39) |
Y451* |
probably null |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Stambpl1 |
G |
C |
19: 34,204,116 (GRCm39) |
G69R |
probably damaging |
Het |
| Surf4 |
G |
T |
2: 26,814,455 (GRCm39) |
R149S |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,702 (GRCm39) |
Y168C |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,861,746 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,533 (GRCm39) |
I1367T |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,932,309 (GRCm39) |
I472T |
probably damaging |
Het |
| Vmn1r212 |
A |
C |
13: 23,067,718 (GRCm39) |
L205R |
probably damaging |
Het |
| Wscd2 |
T |
C |
5: 113,715,402 (GRCm39) |
I414T |
probably benign |
Het |
| Zfp1005 |
A |
C |
2: 150,108,081 (GRCm39) |
T14P |
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 |
|
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 |
|
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'- CTGCATTCAGTATTTCGGAAATGAC -3'
(R):5'- TCTGGGACCTTGACTCATAGAG -3'
Sequencing Primer
(F):5'- TCGGAAATGACTTTGCTAAAGAG -3'
(R):5'- GGGACCTTGACTCATAGAGCTCAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation