Incidental Mutation 'IGL02286:Slc37a2'
ID |
289992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc37a2
|
Ensembl Gene |
ENSMUSG00000032122 |
Gene Name |
solute carrier family 37 (glycerol-3-phosphate transporter), member 2 |
Synonyms |
ci2, Slc37a1, G3PP, cI-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL02286
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
37140445-37166709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37146455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 351
(A351T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115068]
[ENSMUST00000161114]
|
AlphaFold |
Q9WU81 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115068
AA Change: A351T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110720 Gene: ENSMUSG00000032122 AA Change: A351T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
23 |
424 |
1.2e-40 |
PFAM |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161114
AA Change: A351T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124569 Gene: ENSMUSG00000032122 AA Change: A351T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
24 |
426 |
1.2e-40 |
PFAM |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162018
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dab1 |
A |
G |
4: 104,537,267 (GRCm39) |
T187A |
probably damaging |
Het |
Eno2 |
C |
T |
6: 124,743,543 (GRCm39) |
R132H |
probably damaging |
Het |
Fgb |
T |
G |
3: 82,950,633 (GRCm39) |
M374L |
probably benign |
Het |
Fgf21 |
T |
C |
7: 45,264,561 (GRCm39) |
D57G |
possibly damaging |
Het |
Gcgr |
A |
G |
11: 120,428,757 (GRCm39) |
T354A |
probably damaging |
Het |
Gm12790 |
T |
C |
4: 101,824,918 (GRCm39) |
T117A |
probably benign |
Het |
Myo18a |
C |
T |
11: 77,668,811 (GRCm39) |
Q224* |
probably null |
Het |
N4bp2 |
A |
G |
5: 65,960,895 (GRCm39) |
Y522C |
probably damaging |
Het |
Nt5dc3 |
G |
A |
10: 86,656,644 (GRCm39) |
|
probably benign |
Het |
Or12e13 |
G |
A |
2: 87,663,592 (GRCm39) |
A70T |
probably damaging |
Het |
Ppp1r3b |
C |
T |
8: 35,851,515 (GRCm39) |
A118V |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,598,328 (GRCm39) |
F105L |
possibly damaging |
Het |
Vwa8 |
G |
A |
14: 79,184,713 (GRCm39) |
|
probably null |
Het |
Xrra1 |
A |
T |
7: 99,563,434 (GRCm39) |
I474F |
possibly damaging |
Het |
Zfp790 |
A |
G |
7: 29,529,160 (GRCm39) |
K615R |
possibly damaging |
Het |
|
Other mutations in Slc37a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01643:Slc37a2
|
APN |
9 |
37,146,849 (GRCm39) |
splice site |
probably benign |
|
IGL01719:Slc37a2
|
APN |
9 |
37,145,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02039:Slc37a2
|
APN |
9 |
37,144,980 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02951:Slc37a2
|
APN |
9 |
37,166,611 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4581001:Slc37a2
|
UTSW |
9 |
37,148,701 (GRCm39) |
missense |
probably benign |
0.00 |
R0547:Slc37a2
|
UTSW |
9 |
37,144,418 (GRCm39) |
splice site |
probably null |
|
R0689:Slc37a2
|
UTSW |
9 |
37,146,846 (GRCm39) |
splice site |
probably benign |
|
R1301:Slc37a2
|
UTSW |
9 |
37,148,177 (GRCm39) |
missense |
probably benign |
0.05 |
R3927:Slc37a2
|
UTSW |
9 |
37,146,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R4834:Slc37a2
|
UTSW |
9 |
37,146,404 (GRCm39) |
missense |
probably damaging |
0.97 |
R5154:Slc37a2
|
UTSW |
9 |
37,142,939 (GRCm39) |
makesense |
probably null |
|
R5292:Slc37a2
|
UTSW |
9 |
37,150,453 (GRCm39) |
nonsense |
probably null |
|
R6150:Slc37a2
|
UTSW |
9 |
37,149,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Slc37a2
|
UTSW |
9 |
37,152,630 (GRCm39) |
missense |
probably benign |
|
R7014:Slc37a2
|
UTSW |
9 |
37,145,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Slc37a2
|
UTSW |
9 |
37,148,624 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7974:Slc37a2
|
UTSW |
9 |
37,150,421 (GRCm39) |
splice site |
probably null |
|
R8342:Slc37a2
|
UTSW |
9 |
37,149,510 (GRCm39) |
critical splice donor site |
probably null |
|
R8419:Slc37a2
|
UTSW |
9 |
37,148,726 (GRCm39) |
missense |
probably benign |
0.00 |
R9039:Slc37a2
|
UTSW |
9 |
37,148,658 (GRCm39) |
missense |
probably benign |
|
R9314:Slc37a2
|
UTSW |
9 |
37,150,482 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Posted On |
2015-04-16 |