Incidental Mutation 'R4243:Stra6'
ID |
320308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stra6
|
Ensembl Gene |
ENSMUSG00000032327 |
Gene Name |
stimulated by retinoic acid gene 6 |
Synonyms |
|
MMRRC Submission |
041643-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4243 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58050309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 237
(A237T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034880]
[ENSMUST00000085677]
[ENSMUST00000128021]
[ENSMUST00000128378]
[ENSMUST00000133287]
[ENSMUST00000134450]
[ENSMUST00000134955]
[ENSMUST00000167479]
[ENSMUST00000170397]
[ENSMUST00000136154]
[ENSMUST00000136338]
[ENSMUST00000147134]
[ENSMUST00000150820]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034880
AA Change: A237T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000034880 Gene: ENSMUSG00000032327 AA Change: A237T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085677
AA Change: A237T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000082820 Gene: ENSMUSG00000032327 AA Change: A237T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128021
|
SMART Domains |
Protein: ENSMUSP00000117832 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128378
|
SMART Domains |
Protein: ENSMUSP00000115511 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
164 |
4.7e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133287
|
SMART Domains |
Protein: ENSMUSP00000114346 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
138 |
3.4e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134450
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134955
|
SMART Domains |
Protein: ENSMUSP00000117280 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
190 |
1.3e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167479
AA Change: A237T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000128417 Gene: ENSMUSG00000032327 AA Change: A237T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170397
AA Change: A237T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000130232 Gene: ENSMUSG00000032327 AA Change: A237T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136154
|
SMART Domains |
Protein: ENSMUSP00000119062 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136338
|
SMART Domains |
Protein: ENSMUSP00000115314 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
99 |
4e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147134
|
SMART Domains |
Protein: ENSMUSP00000115315 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
162 |
6.2e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150820
|
SMART Domains |
Protein: ENSMUSP00000122373 Gene: ENSMUSG00000032327
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
168 |
1.9e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.1036 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
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 |
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 |
R6486:Stra6
|
UTSW |
9 |
58,058,705 (GRCm39) |
frame shift |
probably null |
|
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'- ATGGTTCCTAGGCTATCCCC -3'
(R):5'- ACTTTCAAGAACCTGGCTTAGC -3'
Sequencing Primer
(F):5'- TATCCCCAGCACCCTGTGG -3'
(R):5'- CAAGTCTGACAGCCTGAGTTTGATC -3'
|
Posted On |
2015-06-12 |