Incidental Mutation 'R6486:Stra6'
| ID |
517342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stra6
|
| Ensembl Gene |
ENSMUSG00000032327 |
| Gene Name |
stimulated by retinoic acid gene 6 |
| Synonyms |
|
| MMRRC Submission |
044618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6486 (G1)
|
| Quality Score |
174.468 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TC to T
at 58058705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034880]
[ENSMUST00000041477]
[ENSMUST00000085677]
[ENSMUST00000167479]
[ENSMUST00000168864]
[ENSMUST00000170397]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034880
|
| SMART Domains |
Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041477
|
| SMART Domains |
Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
18 |
54 |
3.32e-1 |
SMART |
|
LRR
|
50 |
72 |
1.49e1 |
SMART |
|
LRR
|
73 |
96 |
5.26e0 |
SMART |
|
LRR
|
97 |
120 |
1.86e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
5.81e-2 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.21e-4 |
SMART |
|
LRRCT
|
180 |
230 |
2.42e-9 |
SMART |
|
IGc2
|
248 |
334 |
9.78e-7 |
SMART |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085677
|
| SMART Domains |
Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167479
|
| SMART Domains |
Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168864
|
| SMART Domains |
Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
18 |
54 |
3.32e-1 |
SMART |
|
LRR
|
50 |
72 |
1.49e1 |
SMART |
|
LRR
|
73 |
96 |
5.26e0 |
SMART |
|
LRR
|
97 |
120 |
1.86e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
5.81e-2 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.21e-4 |
SMART |
|
LRRCT
|
180 |
230 |
2.42e-9 |
SMART |
|
IGc2
|
248 |
334 |
9.78e-7 |
SMART |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170397
|
| SMART Domains |
Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Male mice homozygous for a gene trap allele exhibit growth retardation. Mice homozygous for a knock-out allele exhibit persistent hyperplastic primary vitreous, shorter inner and outer segment and reduced rod and cone function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1d |
T |
A |
14: 29,836,190 (GRCm39) |
M853L |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,524,448 (GRCm39) |
|
probably null |
Het |
| Capg |
G |
T |
6: 72,534,733 (GRCm39) |
E187* |
probably null |
Het |
| Carns1 |
C |
T |
19: 4,219,979 (GRCm39) |
A419T |
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,305,027 (GRCm39) |
M407T |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,521,582 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,845,084 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,360,186 (GRCm39) |
N704D |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,572 (GRCm39) |
K223E |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,528,233 (GRCm39) |
N78I |
possibly damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,528,859 (GRCm39) |
V122M |
probably damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,469 (GRCm39) |
A309E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,648 (GRCm39) |
E1713G |
possibly damaging |
Het |
| Neto1 |
A |
G |
18: 86,479,371 (GRCm39) |
I186M |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,532,952 (GRCm39) |
D668G |
probably damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,247,927 (GRCm39) |
|
probably null |
Het |
| Or1j11 |
A |
T |
2: 36,311,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5b124 |
T |
G |
19: 13,611,055 (GRCm39) |
N193K |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,200 (GRCm39) |
V2I |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,570,628 (GRCm39) |
S2304P |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,067 (GRCm39) |
F551S |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,851,650 (GRCm39) |
|
probably null |
Het |
| Tnfrsf22 |
T |
C |
7: 143,194,493 (GRCm39) |
T145A |
possibly damaging |
Het |
| Trp63 |
A |
T |
16: 25,684,090 (GRCm39) |
T326S |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,604 (GRCm39) |
M173L |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,304,425 (GRCm39) |
I669L |
probably benign |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
|
| Other mutations in Stra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Stra6
|
APN |
9 |
58,059,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01885:Stra6
|
APN |
9 |
58,048,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Stra6
|
APN |
9 |
58,047,752 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02550:Stra6
|
APN |
9 |
58,057,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02745:Stra6
|
APN |
9 |
58,059,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Stra6
|
APN |
9 |
58,042,396 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0034:Stra6
|
UTSW |
9 |
58,058,752 (GRCm39) |
splice site |
probably null |
|
|
R0070:Stra6
|
UTSW |
9 |
58,059,898 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Stra6
|
UTSW |
9 |
58,059,898 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Stra6
|
UTSW |
9 |
58,052,772 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0387:Stra6
|
UTSW |
9 |
58,060,466 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0879:Stra6
|
UTSW |
9 |
58,042,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1075:Stra6
|
UTSW |
9 |
58,058,687 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1605:Stra6
|
UTSW |
9 |
58,059,166 (GRCm39) |
missense |
probably benign |
|
|
R1840:Stra6
|
UTSW |
9 |
58,047,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1896:Stra6
|
UTSW |
9 |
58,059,166 (GRCm39) |
missense |
probably benign |
|
|
R2149:Stra6
|
UTSW |
9 |
58,059,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4016:Stra6
|
UTSW |
9 |
58,042,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4127:Stra6
|
UTSW |
9 |
58,058,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Stra6
|
UTSW |
9 |
58,050,309 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4631:Stra6
|
UTSW |
9 |
58,048,115 (GRCm39) |
intron |
probably benign |
|
|
R4671:Stra6
|
UTSW |
9 |
58,056,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4688:Stra6
|
UTSW |
9 |
58,042,359 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5091:Stra6
|
UTSW |
9 |
58,048,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Stra6
|
UTSW |
9 |
58,042,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Stra6
|
UTSW |
9 |
58,059,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7368:Stra6
|
UTSW |
9 |
58,058,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7395:Stra6
|
UTSW |
9 |
58,048,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Stra6
|
UTSW |
9 |
58,058,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7807:Stra6
|
UTSW |
9 |
58,057,444 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8099:Stra6
|
UTSW |
9 |
58,059,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Stra6
|
UTSW |
9 |
58,056,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Stra6
|
UTSW |
9 |
58,042,254 (GRCm39) |
intron |
probably benign |
|
|
R8817:Stra6
|
UTSW |
9 |
58,059,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9117:Stra6
|
UTSW |
9 |
58,059,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9495:Stra6
|
UTSW |
9 |
58,059,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9582:Stra6
|
UTSW |
9 |
58,054,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCTTTACTGCATGGC -3'
(R):5'- CAGGTGTCTGCCTCTATCAC -3'
Sequencing Primer
(F):5'- TGCATGGCAGGAACCTCC -3'
(R):5'- ATACTCTAAGCCCTGGTTTGCAAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation