Incidental Mutation 'R9117:Stra6'
| ID |
692598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stra6
|
| Ensembl Gene |
ENSMUSG00000032327 |
| Gene Name |
stimulated by retinoic acid gene 6 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58059822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 594
(S594R)
|
| 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 benign
Transcript: ENSMUST00000034880
AA Change: S594R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
AA Change: S594R
| 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 benign
Transcript: ENSMUST00000085677
AA Change: S594R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
AA Change: S594R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167479
AA Change: S594R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
AA Change: S594R
| 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 benign
Transcript: ENSMUST00000170397
AA Change: S594R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
AA Change: S594R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Agfg1 |
T |
G |
1: 82,872,216 (GRCm39) |
F516L |
possibly damaging |
Het |
| Akap5 |
T |
A |
12: 76,374,592 (GRCm39) |
M8K |
possibly damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,545 (GRCm39) |
V535I |
probably benign |
Het |
| Atg3 |
T |
C |
16: 45,006,564 (GRCm39) |
V277A |
probably damaging |
Het |
| Bloc1s6 |
C |
T |
2: 122,588,534 (GRCm39) |
P168L |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,086 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cfap210 |
G |
T |
2: 69,612,103 (GRCm39) |
S175* |
probably null |
Het |
| Clint1 |
A |
G |
11: 45,781,562 (GRCm39) |
T211A |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,176,662 (GRCm39) |
D873E |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,164 (GRCm39) |
L149P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,033,581 (GRCm39) |
|
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,848,356 (GRCm39) |
V8A |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,702,078 (GRCm39) |
K91N |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Ffar2 |
T |
C |
7: 30,518,616 (GRCm39) |
E308G |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,758 (GRCm39) |
K83E |
unknown |
Het |
| Git2 |
A |
G |
5: 114,887,621 (GRCm39) |
|
probably null |
Het |
| Gm10024 |
T |
C |
10: 77,547,339 (GRCm39) |
S17P |
unknown |
Het |
| Greb1l |
A |
T |
18: 10,542,422 (GRCm39) |
Y1339F |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Herc4 |
C |
A |
10: 63,126,300 (GRCm39) |
L551I |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,528 (GRCm39) |
T390S |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,877,279 (GRCm39) |
Y697* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,595,798 (GRCm39) |
V168A |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,046,041 (GRCm39) |
W5R |
probably damaging |
Het |
| Mavs |
G |
A |
2: 131,087,245 (GRCm39) |
A248T |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,392,773 (GRCm39) |
G390D |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,793,023 (GRCm39) |
H653R |
probably benign |
Het |
| Mrps9 |
T |
G |
1: 42,942,537 (GRCm39) |
S332A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,423,070 (GRCm39) |
C4498R |
possibly damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,800,451 (GRCm39) |
T1002M |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,520,100 (GRCm39) |
M2328L |
probably benign |
Het |
| Or5h18 |
T |
C |
16: 58,847,653 (GRCm39) |
I206V |
probably benign |
Het |
| Or8b52 |
T |
A |
9: 38,577,106 (GRCm39) |
E11D |
probably benign |
Het |
| Pawr |
T |
C |
10: 108,169,140 (GRCm39) |
S155P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,608,090 (GRCm39) |
V441F |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,624,905 (GRCm39) |
D1250G |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,742,853 (GRCm39) |
M430L |
possibly damaging |
Het |
| Raly |
T |
A |
2: 154,703,785 (GRCm39) |
S119T |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,109,412 (GRCm39) |
S128T |
probably benign |
Het |
| Sirt3 |
C |
T |
7: 140,449,362 (GRCm39) |
|
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,748,029 (GRCm39) |
F210L |
probably damaging |
Het |
| Speg |
G |
T |
1: 75,364,444 (GRCm39) |
S275I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,768,141 (GRCm39) |
D47N |
unknown |
Het |
| Sun2 |
T |
C |
15: 79,614,517 (GRCm39) |
H295R |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,053,667 (GRCm39) |
Q7470R |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,666,126 (GRCm39) |
H259Q |
unknown |
Het |
| Toporsl |
A |
T |
4: 52,609,943 (GRCm39) |
|
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,537 (GRCm39) |
S130G |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,801,154 (GRCm39) |
V189A |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,058,918 (GRCm39) |
A206S |
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 |
|
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 |
|
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'- CATGCTTTGTTTGATGCCCG -3'
(R):5'- GTGTCAACAGGAAGCTGCAG -3'
Sequencing Primer
(F):5'- TGTATACACACACCCTGATTGC -3'
(R):5'- CAGGACAGAAGACAAGAGACTTTTCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation