Incidental Mutation 'IGL01719:Slc37a2'
| ID |
105029 |
| 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 # |
IGL01719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37140445-37166709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37145474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 410
(T410A)
|
| 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: T410A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110720
Gene: ENSMUSG00000032122
AA Change: T410A
| 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: T410A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124569
Gene: ENSMUSG00000032122
AA Change: T410A
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,328,081 (GRCm39) |
V366A |
probably benign |
Het |
| Antxr2 |
C |
T |
5: 98,096,132 (GRCm39) |
R384Q |
possibly damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,927 (GRCm39) |
V110M |
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 77,613,958 (GRCm39) |
K198* |
probably null |
Het |
| Dpf3 |
C |
A |
12: 83,341,207 (GRCm39) |
S223I |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,555 (GRCm39) |
R52G |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,423,948 (GRCm39) |
R737C |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,710,379 (GRCm39) |
I1056F |
probably damaging |
Het |
| H2al2a |
T |
A |
2: 18,001,446 (GRCm39) |
H80L |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,267,434 (GRCm39) |
H601R |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,267 (GRCm39) |
L955P |
probably damaging |
Het |
| Jund |
C |
T |
8: 71,151,885 (GRCm39) |
A60V |
possibly damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,861 (GRCm39) |
L362P |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,969 (GRCm39) |
V230G |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,234,903 (GRCm39) |
|
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,018 (GRCm39) |
F14S |
possibly damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Plekha5 |
A |
C |
6: 140,515,855 (GRCm39) |
E702D |
probably damaging |
Het |
| Ppt1 |
A |
G |
4: 122,737,860 (GRCm39) |
Y66C |
probably damaging |
Het |
| S1pr5 |
C |
A |
9: 21,155,250 (GRCm39) |
R392L |
probably benign |
Het |
| St18 |
A |
G |
1: 6,916,020 (GRCm39) |
|
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,865 (GRCm39) |
M249K |
probably benign |
Het |
| Vwa5b2 |
T |
C |
16: 20,416,183 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,393,916 (GRCm39) |
T4512S |
unknown |
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 |
|
|
IGL02039:Slc37a2
|
APN |
9 |
37,144,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02286:Slc37a2
|
APN |
9 |
37,146,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation