Incidental Mutation 'R5137:Catsperb'
ID |
396232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsperb
|
Ensembl Gene |
ENSMUSG00000047014 |
Gene Name |
cation channel sperm associated auxiliary subunit beta |
Synonyms |
4932415G16Rik |
MMRRC Submission |
042723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5137 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101516070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 569
(F569L)
|
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: F569L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052089 Gene: ENSMUSG00000047014 AA Change: F569L
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 |
noncoding transcript
Transcript: ENSMUST00000103870
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220820
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221965
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,123,920 (GRCm39) |
V75A |
probably benign |
Het |
Ace |
G |
C |
11: 105,865,652 (GRCm39) |
W628C |
probably damaging |
Het |
Adh4 |
T |
C |
3: 138,127,996 (GRCm39) |
S141P |
probably benign |
Het |
Apob |
T |
C |
12: 8,061,384 (GRCm39) |
Y3256H |
possibly damaging |
Het |
B3galnt1 |
G |
T |
3: 69,482,282 (GRCm39) |
N326K |
probably benign |
Het |
Bltp3a |
T |
G |
17: 28,095,964 (GRCm39) |
|
probably null |
Het |
Cecr2 |
A |
G |
6: 120,732,478 (GRCm39) |
I225V |
probably benign |
Het |
Cox5b |
A |
G |
1: 36,731,510 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,834,332 (GRCm39) |
D1953G |
probably damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,167,215 (GRCm39) |
T707M |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Ebf1 |
G |
A |
11: 44,882,295 (GRCm39) |
R409Q |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,484,645 (GRCm39) |
A256T |
probably damaging |
Het |
Eef2k |
C |
A |
7: 120,484,646 (GRCm39) |
A256D |
probably damaging |
Het |
Evl |
C |
G |
12: 108,647,781 (GRCm39) |
T294S |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,573,548 (GRCm39) |
Y288H |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,509,014 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
T |
C |
2: 3,226,426 (GRCm39) |
Y395H |
probably benign |
Het |
Gas2l3 |
C |
A |
10: 89,249,837 (GRCm39) |
R427L |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,783,233 (GRCm39) |
I91F |
probably damaging |
Het |
Gm4884 |
T |
C |
7: 40,692,318 (GRCm39) |
S96P |
probably damaging |
Het |
Gprc5d |
T |
A |
6: 135,093,031 (GRCm39) |
D292V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,355,505 (GRCm39) |
K2252R |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,489,285 (GRCm39) |
M346L |
probably benign |
Het |
Kcna5 |
A |
T |
6: 126,510,946 (GRCm39) |
V394D |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,352,617 (GRCm39) |
M431K |
possibly damaging |
Het |
Kifbp |
A |
T |
10: 62,414,020 (GRCm39) |
V46E |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,774,937 (GRCm39) |
F258L |
possibly damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,852,662 (GRCm39) |
C1001S |
probably damaging |
Het |
Micu1 |
A |
G |
10: 59,663,054 (GRCm39) |
Q328R |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,761,290 (GRCm39) |
P437S |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,287,716 (GRCm39) |
F119I |
possibly damaging |
Het |
Myo6 |
A |
G |
9: 80,149,531 (GRCm39) |
E159G |
probably damaging |
Het |
Negr1 |
T |
A |
3: 156,721,833 (GRCm39) |
Y136N |
probably damaging |
Het |
Nol9 |
T |
A |
4: 152,130,428 (GRCm39) |
C321S |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,043,378 (GRCm39) |
F551S |
probably benign |
Het |
Nup153 |
C |
A |
13: 46,837,629 (GRCm39) |
G1198C |
probably damaging |
Het |
Omd |
T |
C |
13: 49,743,552 (GRCm39) |
S201P |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
Or4c120 |
C |
A |
2: 89,000,744 (GRCm39) |
V271F |
probably benign |
Het |
Or51l14 |
A |
G |
7: 103,100,919 (GRCm39) |
Y125C |
probably damaging |
Het |
Or51l14 |
C |
A |
7: 103,100,920 (GRCm39) |
Y125* |
probably null |
Het |
Oxct1 |
G |
T |
15: 4,064,832 (GRCm39) |
A57S |
probably benign |
Het |
Pcdhga7 |
T |
G |
18: 37,850,433 (GRCm39) |
S813R |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,787 (GRCm39) |
I255F |
possibly damaging |
Het |
Pdk1 |
T |
G |
2: 71,713,913 (GRCm39) |
M186R |
possibly damaging |
Het |
Pelp1 |
T |
C |
11: 70,285,925 (GRCm39) |
T648A |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,628,621 (GRCm39) |
S570R |
possibly damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,299,992 (GRCm39) |
T270A |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,160,179 (GRCm39) |
G2130D |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,358,844 (GRCm39) |
Y663* |
probably null |
Het |
Rit2 |
T |
C |
18: 31,286,817 (GRCm39) |
T123A |
probably benign |
Het |
Rmdn2 |
A |
T |
17: 79,975,418 (GRCm39) |
E302D |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,801,283 (GRCm39) |
E827G |
possibly damaging |
Het |
Siglec1 |
C |
T |
2: 130,923,264 (GRCm39) |
G494R |
probably damaging |
Het |
Slc16a14 |
T |
A |
1: 84,890,318 (GRCm39) |
Y329F |
probably damaging |
Het |
Slc35d1 |
A |
T |
4: 103,071,978 (GRCm39) |
L8Q |
possibly damaging |
Het |
Smpdl3a |
C |
T |
10: 57,677,163 (GRCm39) |
S57L |
possibly damaging |
Het |
Snx9 |
T |
C |
17: 5,978,528 (GRCm39) |
V566A |
probably damaging |
Het |
Spaca1 |
A |
T |
4: 34,029,095 (GRCm39) |
I126N |
probably damaging |
Het |
Spred1 |
T |
G |
2: 116,994,052 (GRCm39) |
I94S |
probably damaging |
Het |
Tardbp |
T |
C |
4: 148,706,494 (GRCm39) |
D105G |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,326 (GRCm39) |
S1213G |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,196,121 (GRCm39) |
|
probably benign |
Het |
Trem3 |
G |
A |
17: 48,556,756 (GRCm39) |
V76M |
possibly damaging |
Het |
Ttc13 |
G |
T |
8: 125,421,674 (GRCm39) |
Y250* |
probably null |
Het |
Ttll5 |
T |
G |
12: 85,969,819 (GRCm39) |
S714R |
possibly damaging |
Het |
Ube2l6 |
T |
G |
2: 84,633,220 (GRCm39) |
|
probably null |
Het |
Ubr3 |
T |
C |
2: 69,803,679 (GRCm39) |
S1090P |
probably damaging |
Het |
Vezt |
T |
C |
10: 93,806,372 (GRCm39) |
T680A |
probably benign |
Het |
Virma |
A |
G |
4: 11,546,297 (GRCm39) |
K1762E |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,057,074 (GRCm39) |
S57P |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,822 (GRCm39) |
D130Y |
probably damaging |
Het |
Vwa8 |
T |
G |
14: 79,302,342 (GRCm39) |
F1004V |
probably damaging |
Het |
Zfp35 |
A |
T |
18: 24,137,194 (GRCm39) |
K513* |
probably null |
Het |
Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,978,505 (GRCm39) |
C636F |
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 |
|
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'- ACCCTCCTGCAAAGGTACAG -3'
(R):5'- ACTGTATCTAGTTCTACTAGGAAAGC -3'
Sequencing Primer
(F):5'- TACAGAACCTTCAAACTGGGG -3'
(R):5'- GGAACATGTACAAAATGCACCAG -3'
|
Posted On |
2016-06-21 |