Incidental Mutation 'IGL01594:Slc37a1'
| ID |
91681 |
| 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 # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31505766-31569713 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 31538122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 148
(Y148*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165149]
[ENSMUST00000171233]
|
| AlphaFold |
Q8R070 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000165149
AA Change: Y148*
|
| SMART Domains |
Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: Y148*
| 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 null
Transcript: ENSMUST00000171233
AA Change: Y148*
|
| SMART Domains |
Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: Y148*
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Fem1c |
A |
C |
18: 46,639,343 (GRCm39) |
S220A |
probably benign |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Gtdc1 |
A |
G |
2: 44,481,891 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
G |
10: 41,356,325 (GRCm39) |
Y293D |
probably damaging |
Het |
| Mpzl1 |
T |
C |
1: 165,421,161 (GRCm39) |
D266G |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,537,981 (GRCm39) |
F4S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
possibly damaging |
Het |
|
| Other mutations in Slc37a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation