Incidental Mutation 'IGL01885:Stra6'
| ID |
179117 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stra6
|
| Ensembl Gene |
ENSMUSG00000032327 |
| Gene Name |
stimulated by retinoic acid gene 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58048431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 175
(L175M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034880]
[ENSMUST00000085677]
[ENSMUST00000128021]
[ENSMUST00000128378]
[ENSMUST00000133287]
[ENSMUST00000134450]
[ENSMUST00000134955]
[ENSMUST00000136154]
[ENSMUST00000170397]
[ENSMUST00000167479]
[ENSMUST00000136338]
[ENSMUST00000147134]
[ENSMUST00000150820]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034880
AA Change: L175M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: L175M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085677
AA Change: L175M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: L175M
| 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 damaging
Transcript: ENSMUST00000134955
AA Change: L175M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117280
Gene: ENSMUSG00000032327
AA Change: L175M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
190 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136154
AA Change: L175M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
AA Change: L175M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170397
AA Change: L175M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: L175M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167479
AA Change: L175M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: L175M
| 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
| Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
| Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
| Dglucy |
T |
A |
12: 100,816,540 (GRCm39) |
F394Y |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
| Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
| Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,144,455 (GRCm39) |
K121E |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
| Ostm1 |
C |
T |
10: 42,574,147 (GRCm39) |
S280L |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
C |
T |
17: 42,814,493 (GRCm39) |
T798I |
probably damaging |
Het |
| Rnf41 |
A |
T |
10: 128,271,344 (GRCm39) |
N85Y |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
| St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
| Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation