Incidental Mutation 'IGL02345:Catspere2'
| ID |
289238 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catspere2
|
| Ensembl Gene |
ENSMUSG00000091476 |
| Gene Name |
cation channel sperm associated auxiliary subunit epsilon 2 |
| Synonyms |
EG545391, Gm16432, Gm30473 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 177842754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 60
(V60I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094273]
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094273
AA Change: V60I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091828
Gene: ENSMUSG00000091476
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191719
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192146
AA Change: V60I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
207 |
774 |
1.7e-200 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
| Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
| Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
| Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
| Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
| Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
| Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
| Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
| Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
Het |
|
| Other mutations in Catspere2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Catspere2
|
APN |
1 |
177,842,687 (GRCm39) |
splice site |
probably benign |
|
|
R0089:Catspere2
|
UTSW |
1 |
177,874,555 (GRCm39) |
missense |
unknown |
|
|
R0103:Catspere2
|
UTSW |
1 |
177,943,771 (GRCm39) |
missense |
unknown |
|
|
R1491:Catspere2
|
UTSW |
1 |
177,843,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1662:Catspere2
|
UTSW |
1 |
177,874,552 (GRCm39) |
missense |
unknown |
|
|
R1840:Catspere2
|
UTSW |
1 |
177,830,581 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2168:Catspere2
|
UTSW |
1 |
177,843,477 (GRCm39) |
splice site |
probably benign |
|
|
R3764:Catspere2
|
UTSW |
1 |
177,940,698 (GRCm39) |
missense |
unknown |
|
|
R4586:Catspere2
|
UTSW |
1 |
177,950,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4887:Catspere2
|
UTSW |
1 |
177,931,515 (GRCm39) |
missense |
unknown |
|
|
R4990:Catspere2
|
UTSW |
1 |
177,925,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4991:Catspere2
|
UTSW |
1 |
177,925,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5225:Catspere2
|
UTSW |
1 |
177,976,474 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5285:Catspere2
|
UTSW |
1 |
177,931,454 (GRCm39) |
missense |
unknown |
|
|
R5569:Catspere2
|
UTSW |
1 |
177,939,162 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5743:Catspere2
|
UTSW |
1 |
177,950,328 (GRCm39) |
splice site |
silent |
|
|
R5756:Catspere2
|
UTSW |
1 |
177,943,793 (GRCm39) |
missense |
unknown |
|
|
R6050:Catspere2
|
UTSW |
1 |
177,931,490 (GRCm39) |
missense |
unknown |
|
|
R6166:Catspere2
|
UTSW |
1 |
177,931,403 (GRCm39) |
missense |
unknown |
|
|
R6200:Catspere2
|
UTSW |
1 |
177,939,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6322:Catspere2
|
UTSW |
1 |
177,845,296 (GRCm39) |
nonsense |
probably null |
|
|
R6438:Catspere2
|
UTSW |
1 |
177,938,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6736:Catspere2
|
UTSW |
1 |
177,845,278 (GRCm39) |
nonsense |
probably null |
|
|
R6879:Catspere2
|
UTSW |
1 |
177,926,338 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6897:Catspere2
|
UTSW |
1 |
177,939,139 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7030:Catspere2
|
UTSW |
1 |
177,845,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7335:Catspere2
|
UTSW |
1 |
177,926,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7509:Catspere2
|
UTSW |
1 |
177,905,078 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7896:Catspere2
|
UTSW |
1 |
177,938,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7980:Catspere2
|
UTSW |
1 |
177,830,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8079:Catspere2
|
UTSW |
1 |
177,874,525 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8355:Catspere2
|
UTSW |
1 |
177,845,276 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8360:Catspere2
|
UTSW |
1 |
177,842,724 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8786:Catspere2
|
UTSW |
1 |
177,843,555 (GRCm39) |
splice site |
probably benign |
|
|
R8786:Catspere2
|
UTSW |
1 |
177,843,362 (GRCm39) |
intron |
probably benign |
|
|
R8810:Catspere2
|
UTSW |
1 |
177,905,048 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9170:Catspere2
|
UTSW |
1 |
177,967,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9252:Catspere2
|
UTSW |
1 |
177,938,996 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9442:Catspere2
|
UTSW |
1 |
177,931,275 (GRCm39) |
missense |
unknown |
|
|
Z1177:Catspere2
|
UTSW |
1 |
177,984,368 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation