Incidental Mutation 'IGL03375:Catsper4'
| ID |
420463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsper4
|
| Ensembl Gene |
ENSMUSG00000048003 |
| Gene Name |
cation channel, sperm associated 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133939281-133954694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133945519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 180
(I180T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055892]
[ENSMUST00000169381]
|
| AlphaFold |
Q8BVN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055892
AA Change: I180T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
67 |
294 |
6.9e-34 |
PFAM |
|
Pfam:PKD_channel
|
149 |
289 |
8.1e-8 |
PFAM |
|
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169381
|
| SMART Domains |
Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
56 |
209 |
2.4e-11 |
PFAM |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
coiled coil region
|
280 |
310 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,784,977 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,317,036 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,981,079 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,779,138 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,331,590 (GRCm39) |
T213I |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
probably damaging |
Het |
|
| Other mutations in Catsper4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02178:Catsper4
|
APN |
4 |
133,954,637 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1757:Catsper4
|
UTSW |
4 |
133,945,212 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2087:Catsper4
|
UTSW |
4 |
133,953,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Catsper4
|
UTSW |
4 |
133,945,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Catsper4
|
UTSW |
4 |
133,941,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4679:Catsper4
|
UTSW |
4 |
133,953,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Catsper4
|
UTSW |
4 |
133,953,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Catsper4
|
UTSW |
4 |
133,945,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Catsper4
|
UTSW |
4 |
133,945,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Catsper4
|
UTSW |
4 |
133,948,887 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6885:Catsper4
|
UTSW |
4 |
133,942,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6949:Catsper4
|
UTSW |
4 |
133,953,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6960:Catsper4
|
UTSW |
4 |
133,954,648 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
|
R7235:Catsper4
|
UTSW |
4 |
133,939,892 (GRCm39) |
splice site |
probably null |
|
|
R7261:Catsper4
|
UTSW |
4 |
133,954,423 (GRCm39) |
frame shift |
probably null |
|
|
R7263:Catsper4
|
UTSW |
4 |
133,954,423 (GRCm39) |
frame shift |
probably null |
|
|
R7264:Catsper4
|
UTSW |
4 |
133,954,423 (GRCm39) |
frame shift |
probably null |
|
|
R7483:Catsper4
|
UTSW |
4 |
133,945,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Catsper4
|
UTSW |
4 |
133,954,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9235:Catsper4
|
UTSW |
4 |
133,954,606 (GRCm39) |
missense |
probably benign |
|
|
X0025:Catsper4
|
UTSW |
4 |
133,942,556 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2016-08-02 |
Incidental Mutation