Incidental Mutation 'IGL01829:Slc37a1'
ID |
154726 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc37a1
|
Ensembl Gene |
ENSMUSG00000024036 |
Gene Name |
solute carrier family 37 (glycerol-3-phosphate transporter), member 1 |
Synonyms |
G3PP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01829
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
31505766-31569713 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31541180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 224
(I224T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165149]
[ENSMUST00000171233]
|
AlphaFold |
Q8R070 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165149
AA Change: I224T
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128223 Gene: ENSMUSG00000024036 AA Change: I224T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
21 |
452 |
6.7e-33 |
PFAM |
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
transmembrane domain
|
489 |
511 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171233
AA Change: I224T
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126111 Gene: ENSMUSG00000024036 AA Change: I224T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
22 |
452 |
3.5e-33 |
PFAM |
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
transmembrane domain
|
489 |
511 |
N/A |
INTRINSIC |
|
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 localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
Other mutations in Slc37a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01594:Slc37a1
|
APN |
17 |
31,538,122 (GRCm39) |
nonsense |
probably null |
|
IGL02429:Slc37a1
|
APN |
17 |
31,519,483 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02716:Slc37a1
|
APN |
17 |
31,547,135 (GRCm39) |
missense |
possibly damaging |
0.57 |
gluttony
|
UTSW |
17 |
31,557,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1019:Slc37a1
|
UTSW |
17 |
31,534,568 (GRCm39) |
missense |
probably benign |
0.00 |
R1675:Slc37a1
|
UTSW |
17 |
31,557,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R1768:Slc37a1
|
UTSW |
17 |
31,552,652 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1822:Slc37a1
|
UTSW |
17 |
31,519,405 (GRCm39) |
start gained |
probably benign |
|
R3685:Slc37a1
|
UTSW |
17 |
31,544,667 (GRCm39) |
missense |
probably benign |
0.36 |
R4826:Slc37a1
|
UTSW |
17 |
31,541,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Slc37a1
|
UTSW |
17 |
31,541,120 (GRCm39) |
missense |
probably damaging |
0.98 |
R5326:Slc37a1
|
UTSW |
17 |
31,559,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R5542:Slc37a1
|
UTSW |
17 |
31,559,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Slc37a1
|
UTSW |
17 |
31,565,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R5609:Slc37a1
|
UTSW |
17 |
31,556,982 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6479:Slc37a1
|
UTSW |
17 |
31,557,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7409:Slc37a1
|
UTSW |
17 |
31,559,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Slc37a1
|
UTSW |
17 |
31,535,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R8140:Slc37a1
|
UTSW |
17 |
31,541,233 (GRCm39) |
missense |
probably damaging |
0.99 |
R9061:Slc37a1
|
UTSW |
17 |
31,556,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R9115:Slc37a1
|
UTSW |
17 |
31,534,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R9264:Slc37a1
|
UTSW |
17 |
31,519,459 (GRCm39) |
missense |
probably benign |
|
R9323:Slc37a1
|
UTSW |
17 |
31,552,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R9786:Slc37a1
|
UTSW |
17 |
31,556,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |