Incidental Mutation 'IGL02598:Catsperd'
| ID |
299975 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsperd
|
| Ensembl Gene |
ENSMUSG00000040828 |
| Gene Name |
cation channel sperm associated auxiliary subunit delta |
| Synonyms |
4933402B14Rik, Gm6095, 4921529N20Rik, Tmem146 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 56954815 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
| Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
| Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,840,099 (GRCm39) |
|
probably null |
Het |
| Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
| Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
| Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,744,872 (GRCm39) |
V460E |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
| Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
| Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,278,381 (GRCm39) |
M523L |
probably benign |
Het |
| Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,074,296 (GRCm39) |
S738P |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
| Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
| Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
| Rnf148 |
A |
C |
6: 23,654,456 (GRCm39) |
I180S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
| Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
| Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
| Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
| Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
| Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation