Incidental Mutation 'R3685:Slc37a1'
| ID |
269512 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31505766-31569713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31544667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 253
(T253N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165149]
[ENSMUST00000171233]
|
| AlphaFold |
Q8R070 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165149
AA Change: T253N
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: T253N
| 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 |
probably benign
Transcript: ENSMUST00000171233
AA Change: T253N
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: T253N
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,573,687 (GRCm39) |
V174A |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Prr16 |
C |
A |
18: 51,435,892 (GRCm39) |
P124T |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,535 (GRCm39) |
T106A |
possibly damaging |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,909,333 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
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 |
|
|
IGL01829:Slc37a1
|
APN |
17 |
31,541,180 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGATGCTCTTGTAGTTCC -3'
(R):5'- TTCAGGTAGCCTCTGTAGGG -3'
Sequencing Primer
(F):5'- TTACCACTGTGGGAAGAGGCC -3'
(R):5'- TAGCCTCTGTAGGGAGAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation