Incidental Mutation 'IGL01925:Catspere2'
| ID |
180280 |
| 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 # |
IGL01925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 177842687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094273]
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094273
|
| SMART Domains |
Protein: ENSMUSP00000091828
Gene: ENSMUSG00000091476
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192146
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,019,459 (GRCm39) |
D124G |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,117,299 (GRCm39) |
V926I |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,958 (GRCm39) |
V1176M |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,628 (GRCm39) |
D922E |
possibly damaging |
Het |
| Dipk2a |
A |
C |
9: 94,402,509 (GRCm39) |
D384E |
probably damaging |
Het |
| Epm2a |
T |
A |
10: 11,324,502 (GRCm39) |
I197N |
possibly damaging |
Het |
| Faim |
T |
G |
9: 98,872,972 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,241,450 (GRCm39) |
I565T |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,377,127 (GRCm39) |
P47L |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,106 (GRCm39) |
K187R |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hspa5 |
G |
A |
2: 34,664,730 (GRCm39) |
V395I |
probably benign |
Het |
| Ide |
T |
C |
19: 37,255,296 (GRCm39) |
T836A |
unknown |
Het |
| Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
C |
T |
4: 11,235,617 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,245 (GRCm39) |
H2060L |
probably benign |
Het |
| Mok |
T |
C |
12: 110,774,646 (GRCm39) |
N208S |
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,825 (GRCm39) |
K5R |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,529,260 (GRCm39) |
C1405Y |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,812,979 (GRCm39) |
C226S |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,585 (GRCm39) |
W360R |
probably damaging |
Het |
| Or10al4 |
A |
G |
17: 38,037,002 (GRCm39) |
E29G |
probably benign |
Het |
| Or13f5 |
A |
G |
4: 52,825,910 (GRCm39) |
N171S |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,110,058 (GRCm39) |
T186A |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,235 (GRCm39) |
F277I |
probably damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,341 (GRCm39) |
D95G |
possibly damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,410 (GRCm39) |
S315P |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,595,948 (GRCm39) |
S118P |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,399 (GRCm39) |
S269P |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,231,696 (GRCm39) |
T209I |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,596,817 (GRCm39) |
N1094I |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,061,955 (GRCm39) |
|
probably benign |
Het |
| Top1mt |
A |
G |
15: 75,528,992 (GRCm39) |
F584S |
possibly damaging |
Het |
| Trim44 |
A |
T |
2: 102,230,362 (GRCm39) |
L223Q |
probably benign |
Het |
| Trim69 |
T |
A |
2: 121,998,397 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,265,875 (GRCm39) |
L1153I |
possibly damaging |
Het |
| Unc13a |
G |
A |
8: 72,087,187 (GRCm39) |
T1520I |
possibly damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,428,973 (GRCm39) |
I701S |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,809,208 (GRCm39) |
T263A |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,998,430 (GRCm39) |
|
probably benign |
Het |
| Ythdf2 |
T |
C |
4: 131,938,085 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,239 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Catspere2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02345:Catspere2
|
APN |
1 |
177,842,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
2014-05-07 |
Incidental Mutation