Incidental Mutation 'R7397:Catsperb'
| ID |
573910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
045479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7397 (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 101554282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 659
(S659P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055156
AA Change: S659P
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: S659P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,848 (GRCm39) |
H3R |
unknown |
Het |
| Adam18 |
T |
A |
8: 25,136,321 (GRCm39) |
E400V |
possibly damaging |
Het |
| Ak5 |
A |
T |
3: 152,183,989 (GRCm39) |
F473I |
probably damaging |
Het |
| Arhgef10l |
G |
A |
4: 140,290,115 (GRCm39) |
P486S |
probably damaging |
Het |
| Asphd1 |
T |
A |
7: 126,548,001 (GRCm39) |
R101W |
possibly damaging |
Het |
| Bhlha15 |
G |
A |
5: 144,128,223 (GRCm39) |
E112K |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,364 (GRCm39) |
D198E |
possibly damaging |
Het |
| Carmil1 |
G |
T |
13: 24,228,294 (GRCm39) |
P961T |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,263,241 (GRCm39) |
R97* |
probably null |
Het |
| Cep192 |
T |
C |
18: 67,989,268 (GRCm39) |
I1805T |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,823,331 (GRCm39) |
L995R |
probably damaging |
Het |
| Cfap276 |
T |
A |
3: 108,450,864 (GRCm39) |
I102N |
probably benign |
Het |
| Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,452,469 (GRCm39) |
K809E |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,130 (GRCm39) |
T1467A |
|
Het |
| Ctla2a |
T |
A |
13: 61,083,463 (GRCm39) |
R60S |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,350,014 (GRCm39) |
D22E |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,532 (GRCm39) |
E109V |
probably benign |
Het |
| Dgka |
G |
A |
10: 128,556,594 (GRCm39) |
P701S |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,354,504 (GRCm39) |
I3089F |
possibly damaging |
Het |
| Dock2 |
T |
A |
11: 34,609,816 (GRCm39) |
D208V |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,338,286 (GRCm39) |
Q520K |
probably benign |
Het |
| Foxc1 |
A |
G |
13: 31,991,618 (GRCm39) |
D143G |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,815,601 (GRCm39) |
R3778Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,969,508 (GRCm39) |
C4S |
probably damaging |
Het |
| Gpt |
C |
A |
15: 76,582,717 (GRCm39) |
T294K |
probably benign |
Het |
| Hsd17b4 |
G |
T |
18: 50,279,491 (GRCm39) |
G157C |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,882,153 (GRCm39) |
E1066K |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,453,832 (GRCm39) |
T260I |
possibly damaging |
Het |
| Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
T |
A |
10: 6,922,244 (GRCm39) |
*338R |
probably null |
Het |
| Kif20a |
A |
G |
18: 34,760,729 (GRCm39) |
T166A |
probably damaging |
Het |
| Map3k1 |
G |
A |
13: 111,891,742 (GRCm39) |
A1171V |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,661,855 (GRCm39) |
F484S |
probably damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,523,051 (GRCm39) |
Q180L |
probably benign |
Het |
| Mmp2 |
T |
C |
8: 93,562,755 (GRCm39) |
F331L |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,298,916 (GRCm39) |
H257N |
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,432,547 (GRCm39) |
S285T |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,058,220 (GRCm39) |
D70E |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,562,068 (GRCm39) |
N852S |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,510,429 (GRCm39) |
F574Y |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,457,100 (GRCm39) |
I2322T |
possibly damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,899 (GRCm39) |
L527P |
probably damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,621 (GRCm39) |
W142R |
probably damaging |
Het |
| Nxnl1 |
C |
T |
8: 72,019,105 (GRCm39) |
G40D |
probably damaging |
Het |
| Or52n1 |
C |
T |
7: 104,382,815 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,115 (GRCm39) |
T45M |
probably benign |
Het |
| Otof |
A |
T |
5: 30,533,051 (GRCm39) |
W1564R |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,850,327 (GRCm39) |
Y778C |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,624 (GRCm39) |
|
probably null |
Het |
| Pdpr |
T |
A |
8: 111,839,385 (GRCm39) |
N169K |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,762,641 (GRCm39) |
V1379F |
possibly damaging |
Het |
| Ppp4r1 |
T |
G |
17: 66,144,786 (GRCm39) |
I801S |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,065 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
A |
G |
13: 13,366,327 (GRCm39) |
D202G |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,305,237 (GRCm39) |
T323A |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,036,010 (GRCm39) |
M501T |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,729,718 (GRCm39) |
M310T |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,596,047 (GRCm39) |
I81F |
probably benign |
Het |
| Rock1 |
C |
T |
18: 10,097,599 (GRCm39) |
A730T |
possibly damaging |
Het |
| Rsl1 |
C |
T |
13: 67,330,101 (GRCm39) |
T183I |
possibly damaging |
Het |
| Scyl3 |
T |
C |
1: 163,778,487 (GRCm39) |
|
probably null |
Het |
| Snap29 |
T |
C |
16: 17,237,236 (GRCm39) |
F116L |
probably damaging |
Het |
| Syt5 |
A |
T |
7: 4,545,395 (GRCm39) |
|
probably null |
Het |
| Tat |
T |
C |
8: 110,724,200 (GRCm39) |
L363P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,601,316 (GRCm39) |
V18719A |
possibly damaging |
Het |
| Ube2e2 |
T |
A |
14: 18,630,339 (GRCm38) |
D107V |
probably damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,013 (GRCm39) |
S177P |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,947 (GRCm39) |
W214R |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,498 (GRCm39) |
F615I |
probably damaging |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,060 (GRCm39) |
V576L |
probably benign |
Het |
| Vsig10l |
A |
C |
7: 43,117,431 (GRCm39) |
T573P |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,416,172 (GRCm39) |
Q276R |
probably null |
Het |
| Zc3h7b |
T |
C |
15: 81,653,354 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zeb1 |
T |
A |
18: 5,761,394 (GRCm39) |
Y231N |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,944 (GRCm39) |
K390E |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
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'- AGTTTGGAAAATGTTCTGAGGC -3'
(R):5'- AATCAGGGAGCCACATTGAATATC -3'
Sequencing Primer
(F):5'- GGAAAATGTTCTGAGGCTATGATC -3'
(R):5'- AGCAAGCTTACCTTTTGGAATAATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation