Incidental Mutation 'R2852:Catsperd'
ID |
252348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsperd
|
Ensembl Gene |
ENSMUSG00000040828 |
Gene Name |
cation channel sperm associated auxiliary subunit delta |
Synonyms |
4933402B14Rik, Gm6095, 4921529N20Rik, Tmem146 |
MMRRC Submission |
040445-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2852 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 56967169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112979]
|
AlphaFold |
E9Q9F6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000112979
|
SMART Domains |
Protein: ENSMUSP00000108603 Gene: ENSMUSG00000040828
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.9478 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
Other mutations in Catsperd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02514:Catsperd
|
APN |
17 |
56,968,271 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02598:Catsperd
|
APN |
17 |
56,954,815 (GRCm39) |
splice site |
probably null |
|
IGL03037:Catsperd
|
APN |
17 |
56,948,583 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03330:Catsperd
|
APN |
17 |
56,939,316 (GRCm39) |
missense |
possibly damaging |
0.45 |
R0391:Catsperd
|
UTSW |
17 |
56,969,821 (GRCm39) |
missense |
probably benign |
0.00 |
R0463:Catsperd
|
UTSW |
17 |
56,966,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R0506:Catsperd
|
UTSW |
17 |
56,965,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0538:Catsperd
|
UTSW |
17 |
56,969,828 (GRCm39) |
missense |
probably benign |
0.00 |
R0550:Catsperd
|
UTSW |
17 |
56,970,427 (GRCm39) |
critical splice donor site |
probably null |
|
R1503:Catsperd
|
UTSW |
17 |
56,961,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1705:Catsperd
|
UTSW |
17 |
56,940,521 (GRCm39) |
missense |
probably damaging |
0.97 |
R1919:Catsperd
|
UTSW |
17 |
56,942,548 (GRCm39) |
missense |
probably damaging |
0.99 |
R2851:Catsperd
|
UTSW |
17 |
56,967,169 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3147:Catsperd
|
UTSW |
17 |
56,971,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3148:Catsperd
|
UTSW |
17 |
56,971,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4084:Catsperd
|
UTSW |
17 |
56,961,453 (GRCm39) |
missense |
probably benign |
0.14 |
R4329:Catsperd
|
UTSW |
17 |
56,961,517 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4940:Catsperd
|
UTSW |
17 |
56,969,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4944:Catsperd
|
UTSW |
17 |
56,969,744 (GRCm39) |
missense |
probably damaging |
0.97 |
R4952:Catsperd
|
UTSW |
17 |
56,939,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R5079:Catsperd
|
UTSW |
17 |
56,965,153 (GRCm39) |
critical splice donor site |
probably null |
|
R5259:Catsperd
|
UTSW |
17 |
56,967,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5635:Catsperd
|
UTSW |
17 |
56,939,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5929:Catsperd
|
UTSW |
17 |
56,959,493 (GRCm39) |
missense |
probably benign |
0.00 |
R6789:Catsperd
|
UTSW |
17 |
56,961,426 (GRCm39) |
splice site |
probably null |
|
R6909:Catsperd
|
UTSW |
17 |
56,957,781 (GRCm39) |
missense |
probably damaging |
0.96 |
R6920:Catsperd
|
UTSW |
17 |
56,962,175 (GRCm39) |
nonsense |
probably null |
|
R7099:Catsperd
|
UTSW |
17 |
56,935,811 (GRCm39) |
splice site |
probably null |
|
R7106:Catsperd
|
UTSW |
17 |
56,965,070 (GRCm39) |
splice site |
probably null |
|
R7371:Catsperd
|
UTSW |
17 |
56,957,801 (GRCm39) |
missense |
probably benign |
0.22 |
R7405:Catsperd
|
UTSW |
17 |
56,939,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7478:Catsperd
|
UTSW |
17 |
56,971,055 (GRCm39) |
missense |
probably benign |
0.00 |
R7781:Catsperd
|
UTSW |
17 |
56,971,072 (GRCm39) |
missense |
probably benign |
0.00 |
R7918:Catsperd
|
UTSW |
17 |
56,938,564 (GRCm39) |
missense |
probably benign |
0.06 |
R7981:Catsperd
|
UTSW |
17 |
56,938,562 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8200:Catsperd
|
UTSW |
17 |
56,939,368 (GRCm39) |
critical splice donor site |
probably null |
|
R8487:Catsperd
|
UTSW |
17 |
56,970,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R8974:Catsperd
|
UTSW |
17 |
56,959,525 (GRCm39) |
missense |
possibly damaging |
0.45 |
R9025:Catsperd
|
UTSW |
17 |
56,962,156 (GRCm39) |
missense |
probably damaging |
0.98 |
R9179:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
R9180:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
R9185:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
R9200:Catsperd
|
UTSW |
17 |
56,935,229 (GRCm39) |
missense |
unknown |
|
R9328:Catsperd
|
UTSW |
17 |
56,965,074 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9419:Catsperd
|
UTSW |
17 |
56,958,821 (GRCm39) |
missense |
probably benign |
0.00 |
R9443:Catsperd
|
UTSW |
17 |
56,969,720 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9575:Catsperd
|
UTSW |
17 |
56,935,231 (GRCm39) |
missense |
unknown |
|
R9617:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
R9663:Catsperd
|
UTSW |
17 |
56,960,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCCATCTCTGTAAGCCTC -3'
(R):5'- TGGGCCGATTCAGTTTTAAATC -3'
Sequencing Primer
(F):5'- ACTGATTAAGAAGGCTTTGGGATCC -3'
(R):5'- GGCCGATTCAGTTTTAAATCAATCAC -3'
|
Posted On |
2014-12-04 |