Incidental Mutation 'IGL02745:Stra6'
ID |
306124 |
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 # |
IGL02745
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57971071-58061279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58059321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 561
(D561E)
|
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 damaging
Transcript: ENSMUST00000034880
AA Change: D561E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034880 Gene: ENSMUSG00000032327 AA Change: D561E
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 damaging
Transcript: ENSMUST00000085677
AA Change: D561E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082820 Gene: ENSMUSG00000032327 AA Change: D561E
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167479
AA Change: D561E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128417 Gene: ENSMUSG00000032327 AA Change: D561E
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 damaging
Transcript: ENSMUST00000170397
AA Change: D561E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130232 Gene: ENSMUSG00000032327 AA Change: D561E
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
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 |
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 |
2015-04-16 |