Incidental Mutation 'R8974:Catsperd'
ID |
683344 |
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 |
068808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8974 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56959525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 322
(T322A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112979]
|
AlphaFold |
E9Q9F6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112979
AA Change: T322A
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108603 Gene: ENSMUSG00000040828 AA Change: T322A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
A |
G |
17: 13,143,716 (GRCm39) |
V342A |
probably damaging |
Het |
Acot4 |
T |
C |
12: 84,090,515 (GRCm39) |
F404S |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,580 (GRCm39) |
T808A |
probably benign |
Het |
Apba3 |
T |
C |
10: 81,109,032 (GRCm39) |
V154A |
|
Het |
Arhgap27 |
A |
T |
11: 103,224,756 (GRCm39) |
F476I |
possibly damaging |
Het |
Asah2 |
A |
T |
19: 32,030,305 (GRCm39) |
D122E |
probably benign |
Het |
Asb10 |
T |
C |
5: 24,745,209 (GRCm39) |
I47V |
probably benign |
Het |
Ccdc142 |
T |
C |
6: 83,078,963 (GRCm39) |
V100A |
probably benign |
Het |
Cdc5l |
A |
T |
17: 45,715,621 (GRCm39) |
C664S |
possibly damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cep89 |
A |
G |
7: 35,097,493 (GRCm39) |
S40G |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,446,380 (GRCm39) |
K3315R |
|
Het |
Cyp2d34 |
T |
C |
15: 82,500,537 (GRCm39) |
E434G |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,107,278 (GRCm39) |
Y30H |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
Fam168a |
A |
T |
7: 100,484,611 (GRCm39) |
T234S |
probably benign |
Het |
Fzd3 |
G |
T |
14: 65,472,440 (GRCm39) |
Q443K |
possibly damaging |
Het |
Galnt7 |
A |
G |
8: 58,105,934 (GRCm39) |
S27P |
|
Het |
Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
Hdac2 |
A |
G |
10: 36,862,340 (GRCm39) |
Y68C |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,810,408 (GRCm39) |
C68R |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,899 (GRCm39) |
T1902A |
possibly damaging |
Het |
Lrrc4c |
T |
C |
2: 97,459,992 (GRCm39) |
M206T |
probably damaging |
Het |
Lrrc75b |
T |
C |
10: 75,389,848 (GRCm39) |
T168A |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,674,223 (GRCm39) |
F1003L |
probably damaging |
Het |
Map1s |
T |
C |
8: 71,366,994 (GRCm39) |
L633P |
probably damaging |
Het |
Mapk11 |
G |
A |
15: 89,028,014 (GRCm39) |
T341I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,361,857 (GRCm39) |
V4441D |
probably damaging |
Het |
Nin |
T |
C |
12: 70,124,932 (GRCm39) |
E130G |
|
Het |
Nod2 |
T |
A |
8: 89,390,433 (GRCm39) |
Y247N |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,143,163 (GRCm39) |
V169E |
probably benign |
Het |
Or2w2 |
A |
T |
13: 21,758,203 (GRCm39) |
I141N |
probably damaging |
Het |
Or51v15-ps1 |
T |
C |
7: 103,278,489 (GRCm39) |
Y226C |
unknown |
Het |
Or6c200-ps1 |
A |
C |
10: 128,869,905 (GRCm39) |
C269G |
probably damaging |
Het |
Pcdh9 |
A |
C |
14: 94,125,113 (GRCm39) |
N352K |
probably benign |
Het |
Pfpl |
G |
A |
19: 12,405,839 (GRCm39) |
G30D |
probably damaging |
Het |
Pi15 |
A |
G |
1: 17,691,675 (GRCm39) |
D159G |
possibly damaging |
Het |
Plxna4 |
G |
T |
6: 32,216,447 (GRCm39) |
R543S |
possibly damaging |
Het |
Ppp1r12c |
C |
T |
7: 4,486,698 (GRCm39) |
E543K |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,617,726 (GRCm39) |
|
probably null |
Het |
Proca1 |
T |
C |
11: 78,096,144 (GRCm39) |
S172P |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,723,791 (GRCm39) |
M1578I |
probably benign |
Het |
Rnf103 |
C |
A |
6: 71,486,092 (GRCm39) |
A241E |
probably damaging |
Het |
Rorb |
T |
C |
19: 18,955,070 (GRCm39) |
D182G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,742,624 (GRCm39) |
K485E |
possibly damaging |
Het |
Sec24d |
G |
A |
3: 123,099,498 (GRCm39) |
D324N |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,183,642 (GRCm39) |
I168N |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,101,980 (GRCm39) |
*62R |
probably null |
Het |
Slc22a27 |
A |
C |
19: 7,903,751 (GRCm39) |
S129A |
probably damaging |
Het |
Spata31e1 |
T |
C |
13: 49,939,556 (GRCm39) |
D718G |
probably benign |
Het |
Stab1 |
A |
G |
14: 30,882,779 (GRCm39) |
V408A |
probably benign |
Het |
Svil |
G |
T |
18: 5,099,650 (GRCm39) |
G1729W |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,681,082 (GRCm39) |
S137P |
probably damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,486 (GRCm39) |
D108E |
probably benign |
Het |
Trem2 |
G |
A |
17: 48,655,599 (GRCm39) |
R52Q |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,699,603 (GRCm39) |
S112P |
probably damaging |
Het |
Vmn1r172 |
A |
T |
7: 23,359,840 (GRCm39) |
M242L |
probably benign |
Het |
Vmn2r91 |
G |
A |
17: 18,325,636 (GRCm39) |
A85T |
probably benign |
Het |
Zc3h3 |
T |
C |
15: 75,657,452 (GRCm39) |
T580A |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably 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 |
|
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 |
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'- CTTATTTCTTGCCAGGGGTAAC -3'
(R):5'- TTACAAGGCCTGTGAGGTGTAG -3'
Sequencing Primer
(F):5'- CGGGATCACCTTCTACTAAATGG -3'
(R):5'- CGGTGGCTAAAATGCTTGCCTAC -3'
|
Posted On |
2021-10-11 |