Incidental Mutation 'R5709:Stra8'
| ID |
452132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stra8
|
| Ensembl Gene |
ENSMUSG00000029848 |
| Gene Name |
stimulated by retinoic acid gene 8 |
| Synonyms |
|
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34897098-34916279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34904697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 13
(D13V)
|
| 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: D13V
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848
AA Change: D13V
| 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: ENSMUST00000114997
|
| SMART Domains |
Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
48 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114999
AA Change: D13V
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848
AA Change: D13V
| 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
AA Change: D13V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139136
Gene: ENSMUSG00000029848
AA Change: D13V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
146 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
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 |
|
IGL01336:Stra8
|
APN |
6 |
34,910,123 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGACAACTGGAAATCCACTG -3'
(R):5'- CCCAAGTCCCTGTACCTTTGAG -3'
Sequencing Primer
(F):5'- CAACTGGAAATCCACTGTAAATGG -3'
(R):5'- ACCTTTGAGGCTGTGATATCAGAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation