Incidental Mutation 'BB011:Catsperb'
| ID |
642661 |
| 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 # |
BB011
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101486824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 450
(H450Q)
|
| 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: H450Q
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: H450Q
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,383,281 (GRCm39) |
K2155E |
possibly damaging |
Het |
| Adgre5 |
G |
A |
8: 84,456,029 (GRCm39) |
P256S |
possibly damaging |
Het |
| Adipor1 |
T |
A |
1: 134,353,731 (GRCm39) |
V172D |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,317,230 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,622,641 (GRCm39) |
I404V |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,658,602 (GRCm39) |
R2204Q |
probably damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,515 (GRCm39) |
S65P |
unknown |
Het |
| Bbx |
A |
T |
16: 50,044,671 (GRCm39) |
L630H |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,608 (GRCm39) |
T531A |
possibly damaging |
Het |
| Cdt1 |
T |
C |
8: 123,296,091 (GRCm39) |
L135P |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,728,833 (GRCm39) |
H24L |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,062,746 (GRCm39) |
L260P |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,057,028 (GRCm39) |
V480E |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,038,570 (GRCm39) |
R1003G |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,258,590 (GRCm39) |
D1927G |
probably benign |
Het |
| Dscc1 |
A |
T |
15: 54,945,572 (GRCm39) |
D374E |
probably benign |
Het |
| Eci2 |
G |
A |
13: 35,177,053 (GRCm39) |
Q69* |
probably null |
Het |
| Ep300 |
C |
A |
15: 81,533,703 (GRCm39) |
P1920Q |
unknown |
Het |
| Epha5 |
A |
G |
5: 84,232,705 (GRCm39) |
Y629H |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,153,613 (GRCm39) |
T3533I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,593 (GRCm39) |
N1803S |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,166,840 (GRCm39) |
Y51C |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gcnt2 |
A |
T |
13: 41,072,040 (GRCm39) |
K228* |
probably null |
Het |
| Gucy2c |
A |
T |
6: 136,740,053 (GRCm39) |
V258E |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,497,113 (GRCm39) |
L298F |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,145,103 (GRCm39) |
V818G |
possibly damaging |
Het |
| Hykk |
A |
G |
9: 54,829,524 (GRCm39) |
Y131C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,685,666 (GRCm39) |
D48G |
probably damaging |
Het |
| Mrps10 |
T |
C |
17: 47,689,208 (GRCm39) |
*202Q |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,024,559 (GRCm39) |
V30A |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Muc2 |
G |
T |
7: 141,281,631 (GRCm39) |
G497W |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,523,181 (GRCm39) |
V237D |
probably damaging |
Het |
| Nox4 |
G |
T |
7: 87,023,589 (GRCm39) |
V492L |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,244,563 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6aa1 |
A |
G |
7: 86,043,938 (GRCm39) |
I256T |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,137,231 (GRCm39) |
N861S |
probably benign |
Het |
| Pdlim4 |
G |
A |
11: 53,946,048 (GRCm39) |
R230* |
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,241,550 (GRCm39) |
V159M |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,201,613 (GRCm39) |
T855S |
probably benign |
Het |
| Pot1a |
T |
A |
6: 25,753,309 (GRCm39) |
D409V |
possibly damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,111 (GRCm39) |
D382G |
probably benign |
Het |
| Prss16 |
A |
T |
13: 22,192,834 (GRCm39) |
N83K |
probably damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,804,884 (GRCm39) |
D133G |
probably benign |
Het |
| Rasef |
C |
T |
4: 73,659,166 (GRCm39) |
|
probably null |
Het |
| Rbak |
A |
G |
5: 143,160,241 (GRCm39) |
S271P |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,666,016 (GRCm39) |
I60F |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCCGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpinb3c |
A |
G |
1: 107,200,904 (GRCm39) |
L171P |
probably damaging |
Het |
| Slc25a19 |
T |
C |
11: 115,506,376 (GRCm39) |
Y211C |
unknown |
Het |
| Sorbs2 |
C |
T |
8: 46,248,507 (GRCm39) |
S586L |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,180,733 (GRCm39) |
S58R |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,026,762 (GRCm39) |
I329T |
probably benign |
Het |
| St8sia2 |
G |
A |
7: 73,616,700 (GRCm39) |
L113F |
probably damaging |
Het |
| Star |
T |
C |
8: 26,299,883 (GRCm39) |
I75T |
possibly damaging |
Het |
| Tasor2 |
A |
T |
13: 3,644,331 (GRCm39) |
F129Y |
possibly damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,697 (GRCm39) |
I784F |
possibly damaging |
Het |
| Tex55 |
G |
A |
16: 38,632,826 (GRCm39) |
Q369* |
probably null |
Het |
| Tsc22d4 |
A |
G |
5: 137,766,273 (GRCm39) |
I144V |
unknown |
Het |
| Tspan8 |
T |
C |
10: 115,669,229 (GRCm39) |
|
probably null |
Het |
| Ttll9 |
C |
T |
2: 152,804,407 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,194,587 (GRCm39) |
L1160R |
unknown |
Het |
| Ufd1 |
A |
G |
16: 18,642,035 (GRCm39) |
Y162C |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,641,690 (GRCm39) |
F1268I |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,568,295 (GRCm39) |
I561T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,254 (GRCm39) |
S817T |
probably damaging |
Het |
| Ybx1 |
T |
C |
4: 119,139,476 (GRCm39) |
E173G |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,400 (GRCm39) |
S640P |
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 |
|
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 |
|
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'- CCTGGGTTCATGATGGACATAG -3'
(R):5'- CAGCATGCTAGTGAAGGTTTCC -3'
Sequencing Primer
(F):5'- GGGTTCATGATGGACATAGAGATATG -3'
(R):5'- TGATTTGTCTCTGTAAATCCAACC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation