Incidental Mutation 'R6179:Stra6'
| ID |
487936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stra6
|
| Ensembl Gene |
ENSMUSG00000032327 |
| Gene Name |
stimulated by retinoic acid gene 6 |
| Synonyms |
|
| MMRRC Submission |
044321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6179 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58042452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 27
(E27G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034880]
[ENSMUST00000085677]
[ENSMUST00000128021]
[ENSMUST00000128378]
[ENSMUST00000133287]
[ENSMUST00000134450]
[ENSMUST00000134955]
[ENSMUST00000136154]
[ENSMUST00000136338]
[ENSMUST00000147134]
[ENSMUST00000150820]
[ENSMUST00000167479]
[ENSMUST00000170397]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034880
AA Change: E27G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085677
AA Change: E27G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128021
AA Change: E27G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128378
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115511
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
164 |
4.7e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133287
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114346
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
138 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134450
AA Change: E27G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134955
AA Change: E27G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117280
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
190 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136154
AA Change: E27G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136338
AA Change: E27G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115314
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
99 |
4e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147134
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115315
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
162 |
6.2e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150820
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122373
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
168 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167479
AA Change: E27G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170397
AA Change: E27G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,653 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
C |
6: 91,919,311 (GRCm39) |
S657P |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,025,080 (GRCm39) |
I988V |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,270,662 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
T |
A |
12: 8,055,060 (GRCm39) |
L1353* |
probably null |
Het |
| Atp2b1 |
C |
T |
10: 98,858,691 (GRCm39) |
R222C |
probably damaging |
Het |
| AW209491 |
T |
G |
13: 14,811,668 (GRCm39) |
S174A |
possibly damaging |
Het |
| B930094E09Rik |
G |
C |
18: 31,742,911 (GRCm39) |
|
probably benign |
Het |
| Cbln3 |
G |
T |
14: 56,121,517 (GRCm39) |
P43Q |
possibly damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,487 (GRCm39) |
T57S |
probably benign |
Het |
| Ccr2 |
A |
C |
9: 123,906,008 (GRCm39) |
N96T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,956,837 (GRCm39) |
I868V |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,094,071 (GRCm39) |
I1535T |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,204 (GRCm39) |
T377S |
probably benign |
Het |
| Cpeb3 |
A |
G |
19: 37,065,853 (GRCm39) |
F439L |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,269 (GRCm39) |
V399A |
probably damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,187 (GRCm39) |
G329R |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,781,868 (GRCm39) |
E691G |
probably benign |
Het |
| Edil3 |
A |
T |
13: 88,970,108 (GRCm39) |
H3L |
probably benign |
Het |
| Endod1 |
T |
C |
9: 14,268,757 (GRCm39) |
I243V |
probably benign |
Het |
| Fpr3 |
G |
A |
17: 18,190,919 (GRCm39) |
W63* |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,753,158 (GRCm39) |
N424K |
possibly damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,783,192 (GRCm39) |
V252M |
probably damaging |
Het |
| Kifbp |
G |
A |
10: 62,399,029 (GRCm39) |
Q130* |
probably null |
Het |
| Lmbrd2 |
T |
G |
15: 9,149,262 (GRCm39) |
I48M |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 158,059,069 (GRCm39) |
I13L |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,822,386 (GRCm39) |
S408P |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,028,529 (GRCm39) |
V542A |
possibly damaging |
Het |
| Msto1 |
C |
A |
3: 88,818,254 (GRCm39) |
R331L |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,979 (GRCm39) |
E1425K |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,554,437 (GRCm39) |
I340T |
probably benign |
Het |
| Or1j4 |
T |
C |
2: 36,740,846 (GRCm39) |
S263P |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,669 (GRCm39) |
M884K |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,140,573 (GRCm39) |
L749H |
probably damaging |
Het |
| Pigp |
T |
C |
16: 94,171,226 (GRCm39) |
R22G |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,824 (GRCm39) |
M200T |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,580,471 (GRCm39) |
D668E |
unknown |
Het |
| Prss3 |
G |
A |
6: 41,352,060 (GRCm39) |
R68C |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,994,721 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,006,630 (GRCm39) |
F2116L |
possibly damaging |
Het |
| Spg21 |
T |
C |
9: 65,376,090 (GRCm39) |
S33P |
possibly damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,349 (GRCm39) |
S432P |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,320 (GRCm39) |
Q1468R |
probably benign |
Het |
| Tbce |
T |
G |
13: 14,194,362 (GRCm39) |
E99A |
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,923 (GRCm39) |
T380A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,220,501 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,491,003 (GRCm39) |
Q415* |
probably null |
Het |
| Vwf |
G |
A |
6: 125,626,252 (GRCm39) |
C7Y |
unknown |
Het |
| Yeats2 |
C |
T |
16: 20,033,225 (GRCm39) |
P1088L |
probably benign |
Het |
| Zfp40 |
C |
A |
17: 23,397,354 (GRCm39) |
V48L |
possibly 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 |
|
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 |
|
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'- ACTTTTCCCAGAGAGCTAAAAGC -3'
(R):5'- GCCTCAAGCCCTTCTTAATAATAG -3'
Sequencing Primer
(F):5'- GCTAAAAGCAAGAAAGTAACCTTTAG -3'
(R):5'- GTTCAAGAACTGTTGTCCCCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation