Incidental Mutation 'IGL01336:Stra8'
| ID |
74631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stra8
|
| Ensembl Gene |
ENSMUSG00000029848 |
| Gene Name |
stimulated by retinoic acid gene 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34897098-34916279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34910123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 182
(Y182H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031876]
[ENSMUST00000114997]
[ENSMUST00000114999]
[ENSMUST00000185102]
|
| AlphaFold |
P70278 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031876
AA Change: Y182H
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: Y182H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HLH
|
34 |
83 |
5e-20 |
BLAST |
|
coiled coil region
|
159 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114997
AA Change: Y71H
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
AA Change: Y71H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
48 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114999
AA Change: Y182H
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: Y182H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HLH
|
34 |
83 |
5e-20 |
BLAST |
|
coiled coil region
|
159 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185102
|
| SMART Domains |
Protein: ENSMUSP00000139136
Gene: ENSMUSG00000029848
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
146 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display impaired meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stra8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Stra8
|
APN |
6 |
34,914,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02110:Stra8
|
APN |
6 |
34,907,289 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Stra8
|
APN |
6 |
34,916,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rounded
|
UTSW |
6 |
34,909,975 (GRCm39) |
nonsense |
probably null |
|
|
R1740:Stra8
|
UTSW |
6 |
34,904,654 (GRCm39) |
splice site |
probably benign |
|
|
R4928:Stra8
|
UTSW |
6 |
34,910,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5412:Stra8
|
UTSW |
6 |
34,907,885 (GRCm39) |
start codon destroyed |
probably null |
0.46 |
|
R5709:Stra8
|
UTSW |
6 |
34,904,697 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6558:Stra8
|
UTSW |
6 |
34,909,975 (GRCm39) |
nonsense |
probably null |
|
|
R7081:Stra8
|
UTSW |
6 |
34,911,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7673:Stra8
|
UTSW |
6 |
34,904,853 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7845:Stra8
|
UTSW |
6 |
34,907,899 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7946:Stra8
|
UTSW |
6 |
34,907,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8773:Stra8
|
UTSW |
6 |
34,912,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8933:Stra8
|
UTSW |
6 |
34,904,624 (GRCm39) |
intron |
probably benign |
|
|
R9149:Stra8
|
UTSW |
6 |
34,911,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Stra8
|
UTSW |
6 |
34,911,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Stra8
|
UTSW |
6 |
34,909,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-10-07 |
Incidental Mutation