Incidental Mutation 'R5609:Slc37a1'
| ID |
437992 |
| 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 |
043158-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5609 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31505766-31569713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31556982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 383
(V383M)
|
| 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: V383M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: V383M
| 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: V383M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: V383M
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
| Ago1 |
C |
A |
4: 126,354,830 (GRCm39) |
K127N |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,374 (GRCm39) |
N79S |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,385 (GRCm39) |
L836P |
probably damaging |
Het |
| AY358078 |
A |
G |
14: 52,042,065 (GRCm39) |
T147A |
unknown |
Het |
| Cabp4 |
T |
C |
19: 4,189,251 (GRCm39) |
D102G |
probably benign |
Het |
| Cdc34 |
C |
T |
10: 79,520,655 (GRCm39) |
R61C |
probably damaging |
Het |
| Chac1 |
A |
G |
2: 119,181,887 (GRCm39) |
K2E |
unknown |
Het |
| Cltc |
C |
T |
11: 86,621,093 (GRCm39) |
V305I |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,524,683 (GRCm39) |
T704A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,421,174 (GRCm39) |
V184A |
probably damaging |
Het |
| Daglb |
A |
T |
5: 143,464,274 (GRCm39) |
T262S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,753,905 (GRCm39) |
I12V |
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,621,753 (GRCm39) |
V1124A |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Eif3k |
C |
A |
7: 28,681,133 (GRCm39) |
A9S |
probably benign |
Het |
| Elapor1 |
T |
A |
3: 108,378,731 (GRCm39) |
I408F |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,723,038 (GRCm39) |
M60L |
possibly damaging |
Het |
| Hk1 |
C |
T |
10: 62,178,330 (GRCm39) |
E4K |
probably benign |
Het |
| Kmt2b |
C |
A |
7: 30,276,570 (GRCm39) |
V1701L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,231,807 (GRCm39) |
H1107R |
probably damaging |
Het |
| Lypd10 |
A |
T |
7: 24,413,711 (GRCm39) |
R242S |
possibly damaging |
Het |
| Ncor1 |
A |
G |
11: 62,249,679 (GRCm39) |
|
probably null |
Het |
| Or5h23 |
T |
A |
16: 58,906,439 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or6c70 |
T |
G |
10: 129,710,607 (GRCm39) |
R6S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,106,134 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
G |
T |
8: 110,251,739 (GRCm39) |
E327D |
probably damaging |
Het |
| Slc22a17 |
G |
A |
14: 55,146,427 (GRCm39) |
P63L |
probably damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,691,990 (GRCm39) |
Y182N |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,842,162 (GRCm39) |
D29G |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,130,446 (GRCm39) |
V319A |
possibly damaging |
Het |
| Tbc1d10c |
C |
T |
19: 4,239,881 (GRCm39) |
M76I |
possibly damaging |
Het |
| Thrb |
C |
A |
14: 18,033,526 (GRCm38) |
H416N |
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,210,987 (GRCm39) |
D60V |
probably damaging |
Het |
| Ubxn6 |
C |
T |
17: 56,376,745 (GRCm39) |
E216K |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,094,527 (GRCm39) |
M1977T |
probably benign |
Het |
| Uri1 |
G |
A |
7: 37,662,954 (GRCm39) |
R347* |
probably null |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,591 (GRCm39) |
W136* |
probably null |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,102 (GRCm39) |
Y730H |
probably benign |
Het |
| Wnk4 |
C |
T |
11: 101,166,462 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,679 (GRCm39) |
N2971D |
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 |
|
|
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 |
|
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'- AAGATGTGTCCTGCTAGGCC -3'
(R):5'- ATGGCTCAGAGCTCCTAAGG -3'
Sequencing Primer
(F):5'- TGCTAGGCCAGACTCCAAGTG -3'
(R):5'- CTCAGAGCTCCTAAGGGACAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation