Incidental Mutation 'IGL01486:Spata4'
| ID |
88763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata4
|
| Ensembl Gene |
ENSMUSG00000031518 |
| Gene Name |
spermatogenesis associated 4 |
| Synonyms |
SRG2, TSARG2, 1700001N01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
55053816-55063133 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 55055341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033917]
|
| AlphaFold |
Q8K3V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033917
|
| SMART Domains |
Protein: ENSMUSP00000033917
Gene: ENSMUSG00000031518
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
Pfam:CH_2
|
54 |
149 |
1.1e-37 |
PFAM |
|
Pfam:CAMSAP_CH
|
56 |
136 |
2.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
| Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
| Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
| Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
| Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Spata4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02418:Spata4
|
APN |
8 |
55,062,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02685:Spata4
|
APN |
8 |
55,053,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03172:Spata4
|
APN |
8 |
55,055,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0885:Spata4
|
UTSW |
8 |
55,053,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2237:Spata4
|
UTSW |
8 |
55,055,664 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2238:Spata4
|
UTSW |
8 |
55,055,664 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2239:Spata4
|
UTSW |
8 |
55,055,664 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4430:Spata4
|
UTSW |
8 |
55,054,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4915:Spata4
|
UTSW |
8 |
55,055,471 (GRCm39) |
splice site |
probably null |
|
|
R6508:Spata4
|
UTSW |
8 |
55,053,887 (GRCm39) |
missense |
probably benign |
|
|
R6809:Spata4
|
UTSW |
8 |
55,055,368 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7148:Spata4
|
UTSW |
8 |
55,055,585 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8851:Spata4
|
UTSW |
8 |
55,062,935 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9071:Spata4
|
UTSW |
8 |
55,055,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Spata4
|
UTSW |
8 |
55,053,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation