Incidental Mutation 'R8339:Slc37a4'
| ID |
644803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc37a4
|
| Ensembl Gene |
ENSMUSG00000032114 |
| Gene Name |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
| Synonyms |
G6pt1, G6PT |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44308243-44314263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44313724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 417
(I417V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034623]
[ENSMUST00000080300]
[ENSMUST00000165839]
[ENSMUST00000213268]
[ENSMUST00000213388]
[ENSMUST00000215001]
[ENSMUST00000215121]
[ENSMUST00000215420]
[ENSMUST00000217084]
[ENSMUST00000217163]
|
| AlphaFold |
A0A1L1SUI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034623
|
| SMART Domains |
Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
209 |
2.7e-63 |
PFAM |
|
Pfam:Sedlin_N
|
90 |
207 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080300
|
| SMART Domains |
Protein: ENSMUSP00000079180
Gene: ENSMUSG00000009927
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S25
|
4 |
112 |
6.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165839
AA Change: I417V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: I417V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
381 |
3.5e-48 |
PFAM |
|
transmembrane domain
|
395 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213268
AA Change: I438V
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213388
AA Change: I417V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215420
AA Change: I417V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217163
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygous null mice exhibit disrupted glucose homeostasis, transient neutropenia associated with impaired neutrophil trafficking and function. Mice are growth retarded and, without glucose therapy, die postnatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,831 (GRCm39) |
F1549S |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,032,281 (GRCm39) |
E710G |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,103,640 (GRCm39) |
H668Q |
probably benign |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,872,817 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,907,399 (GRCm39) |
L984* |
probably null |
Het |
| Ccr1 |
T |
G |
9: 123,763,763 (GRCm39) |
N256H |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,236,846 (GRCm39) |
D254E |
|
Het |
| Cfhr4 |
T |
A |
1: 139,660,157 (GRCm39) |
E656V |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,228,142 (GRCm39) |
Y2315* |
probably null |
Het |
| Cspp1 |
G |
T |
1: 10,183,892 (GRCm39) |
R839I |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,629,982 (GRCm39) |
D153E |
probably benign |
Het |
| Dnah7a |
G |
T |
1: 53,724,178 (GRCm39) |
L96I |
probably benign |
Het |
| G6pc1 |
A |
G |
11: 101,267,314 (GRCm39) |
T255A |
possibly damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Il12a |
T |
A |
3: 68,599,438 (GRCm39) |
C33* |
probably null |
Het |
| Iqce |
T |
C |
5: 140,660,093 (GRCm39) |
E555G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,396 (GRCm39) |
M1484V |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,159,562 (GRCm39) |
S518P |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
A |
T |
13: 21,739,996 (GRCm39) |
N65K |
probably damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,717 (GRCm39) |
S230P |
probably damaging |
Het |
| Or9g4b |
C |
A |
2: 85,615,876 (GRCm39) |
T7N |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,625,396 (GRCm39) |
I1516F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,625,397 (GRCm39) |
S1515R |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,192,651 (GRCm39) |
V627E |
probably damaging |
Het |
| Ptprb |
A |
C |
10: 116,119,356 (GRCm39) |
R163S |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,649,008 (GRCm39) |
P432Q |
probably null |
Het |
| Rgl3 |
T |
C |
9: 21,898,825 (GRCm39) |
T205A |
probably benign |
Het |
| Rock2 |
G |
T |
12: 17,024,861 (GRCm39) |
W1213L |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,089,977 (GRCm39) |
H290L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,116,373 (GRCm39) |
Y422C |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,469,966 (GRCm39) |
M132L |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,975,589 (GRCm39) |
S478G |
unknown |
Het |
| Slc18a1 |
A |
T |
8: 69,518,273 (GRCm39) |
M247K |
possibly damaging |
Het |
| Slc9b2 |
A |
G |
3: 135,030,363 (GRCm39) |
M227V |
possibly damaging |
Het |
| Tcf20 |
C |
A |
15: 82,736,877 (GRCm39) |
V1525L |
probably benign |
Het |
| Tril |
G |
A |
6: 53,794,918 (GRCm39) |
T768I |
possibly damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,899,858 (GRCm39) |
H99R |
possibly damaging |
Het |
| Zfp653 |
T |
C |
9: 21,969,213 (GRCm39) |
E351G |
probably damaging |
Het |
|
| Other mutations in Slc37a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Slc37a4
|
APN |
9 |
44,311,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Slc37a4
|
APN |
9 |
44,311,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1875:Slc37a4
|
UTSW |
9 |
44,312,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4721:Slc37a4
|
UTSW |
9 |
44,312,787 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5502:Slc37a4
|
UTSW |
9 |
44,313,394 (GRCm39) |
missense |
probably benign |
|
|
R6395:Slc37a4
|
UTSW |
9 |
44,310,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6909:Slc37a4
|
UTSW |
9 |
44,311,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7579:Slc37a4
|
UTSW |
9 |
44,312,818 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8187:Slc37a4
|
UTSW |
9 |
44,311,291 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8435:Slc37a4
|
UTSW |
9 |
44,310,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Slc37a4
|
UTSW |
9 |
44,313,632 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9082:Slc37a4
|
UTSW |
9 |
44,313,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGGTAAGTCCTTCACTGC -3'
(R):5'- AACTTGCAGCACCATGGAGG -3'
Sequencing Primer
(F):5'- AATGGTAAGTCCTTCACTGCTTTGC -3'
(R):5'- CCATGGAGGTTCAGAGAGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation