Incidental Mutation 'R1705:Catsperd'
ID |
190042 |
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 |
039738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R1705 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56940521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 69
(F69S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112979]
|
AlphaFold |
E9Q9F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112979
AA Change: F69S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108603 Gene: ENSMUSG00000040828 AA Change: F69S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.5938 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
90% (43/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,903,133 (GRCm39) |
|
probably benign |
Het |
C1ql2 |
A |
G |
1: 120,270,271 (GRCm39) |
T278A |
probably damaging |
Het |
Card14 |
A |
G |
11: 119,229,232 (GRCm39) |
H714R |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,805,706 (GRCm39) |
E105G |
probably damaging |
Het |
Coil |
A |
G |
11: 88,864,962 (GRCm39) |
Y63C |
probably damaging |
Het |
Cox14 |
A |
G |
15: 99,625,559 (GRCm39) |
|
probably null |
Het |
Defa24 |
T |
C |
8: 22,224,617 (GRCm39) |
I22T |
probably damaging |
Het |
F5 |
T |
C |
1: 164,045,059 (GRCm39) |
Y2116H |
possibly damaging |
Het |
Faf1 |
C |
T |
4: 109,534,199 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,436,167 (GRCm39) |
S1026G |
probably benign |
Het |
Hgf |
A |
T |
5: 16,820,800 (GRCm39) |
H649L |
probably benign |
Het |
Hmces |
T |
C |
6: 87,910,283 (GRCm39) |
V231A |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,632,598 (GRCm39) |
V963A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,692,196 (GRCm39) |
|
probably null |
Het |
Meox2 |
G |
A |
12: 37,217,493 (GRCm39) |
|
probably benign |
Het |
Mis18bp1 |
A |
C |
12: 65,196,113 (GRCm39) |
S550R |
probably benign |
Het |
Nap1l4 |
A |
T |
7: 143,095,497 (GRCm39) |
M1K |
probably null |
Het |
Nav1 |
G |
T |
1: 135,512,337 (GRCm39) |
T241N |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,454,264 (GRCm39) |
W2694R |
probably damaging |
Het |
Or11g2 |
A |
T |
14: 50,856,579 (GRCm39) |
H300L |
probably benign |
Het |
Or2b6 |
C |
A |
13: 21,823,331 (GRCm39) |
D121Y |
probably damaging |
Het |
Or4c52 |
A |
T |
2: 89,845,855 (GRCm39) |
I194F |
possibly damaging |
Het |
Phaf1 |
T |
C |
8: 105,965,104 (GRCm39) |
|
probably benign |
Het |
Pld1 |
G |
A |
3: 28,125,426 (GRCm39) |
|
probably null |
Het |
Podn |
T |
C |
4: 107,875,055 (GRCm39) |
R164G |
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,433,290 (GRCm39) |
H370L |
probably benign |
Het |
R3hdm1 |
T |
A |
1: 128,162,821 (GRCm39) |
L966Q |
probably damaging |
Het |
Rasef |
A |
T |
4: 73,662,301 (GRCm39) |
Y369* |
probably null |
Het |
Ryr1 |
A |
T |
7: 28,777,989 (GRCm39) |
V2176E |
probably damaging |
Het |
Sec14l2 |
A |
G |
11: 4,053,980 (GRCm39) |
L229P |
possibly damaging |
Het |
Sec23a |
T |
C |
12: 59,048,652 (GRCm39) |
S157G |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,814 (GRCm39) |
W219R |
probably damaging |
Het |
Smarcad1 |
G |
A |
6: 65,033,400 (GRCm39) |
E128K |
probably damaging |
Het |
Stk31 |
A |
T |
6: 49,400,318 (GRCm39) |
N381I |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,180,356 (GRCm39) |
Y264H |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,607,066 (GRCm39) |
I3987N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,643,738 (GRCm39) |
S4367T |
probably benign |
Het |
Vdr |
A |
T |
15: 97,765,052 (GRCm39) |
V229D |
probably damaging |
Het |
Ywhaz |
G |
T |
15: 36,790,959 (GRCm39) |
T88K |
possibly damaging |
Het |
Zc3h10 |
A |
T |
10: 128,380,672 (GRCm39) |
C228* |
probably null |
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 |
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 |
|
R2852: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'- TTGGCCTCTGAAGTGCCAGGAAGG -3'
(R):5'- GCCTCCAACTTCATTGCAACTCAGC -3'
Sequencing Primer
(F):5'- agaaaccctgtcttgaaaaacc -3'
(R):5'- TCATTGCAACTCAGCATCTCTAAG -3'
|
Posted On |
2014-05-14 |