Incidental Mutation 'R1019:Slc37a1'
| ID |
96799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc37a1
|
| Ensembl Gene |
ENSMUSG00000024036 |
| Gene Name |
solute carrier family 37 (glycerol-3-phosphate transporter), member 1 |
| Synonyms |
G3PP |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31505766-31569713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31534568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 80
(N80S)
|
| 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: N80S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: N80S
| 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: N80S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: N80S
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGCTGCCAGAGCCTCCTGTC -3'
(R):5'- TGTTTGCTAGGGTCCAGTCGTCAC -3'
Sequencing Primer
(F):5'- AACTCCTGTGGATGTCAGAC -3'
(R):5'- GTCGTCACTGAAAGGCACTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation