Incidental Mutation 'IGL03380:Slc37a4'
ID 420657
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL03380
Quality Score
Status
Chromosome 9
Chromosomal Location 44308243-44314263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44311320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 204 (S204A)
Ref Sequence ENSEMBL: ENSMUSP00000148956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000165839] [ENSMUST00000213268] [ENSMUST00000213388] [ENSMUST00000215420] [ENSMUST00000217084] [ENSMUST00000217163] [ENSMUST00000215001] [ENSMUST00000215121]
AlphaFold A0A1L1SUI3
Predicted Effect probably benign
Transcript: ENSMUST00000034623
SMART Domains Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

DomainStartEndE-ValueType
Pfam:Sybindin 3 209 2.7e-63 PFAM
Pfam:Sedlin_N 90 207 2.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157773
Predicted Effect probably benign
Transcript: ENSMUST00000165839
AA Change: S204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: S204A

DomainStartEndE-ValueType
Pfam:MFS_1 17 381 3.5e-48 PFAM
transmembrane domain 395 417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184353
Predicted Effect probably benign
Transcript: ENSMUST00000213268
AA Change: S204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000213388
AA Change: S204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215420
AA Change: S204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213747
Predicted Effect probably benign
Transcript: ENSMUST00000217084
Predicted Effect probably benign
Transcript: ENSMUST00000217163
Predicted Effect probably benign
Transcript: ENSMUST00000215001
Predicted Effect probably benign
Transcript: ENSMUST00000215121
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Slc37a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Slc37a4 APN 9 44,311,261 (GRCm39) missense probably damaging 1.00
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
R8339:Slc37a4 UTSW 9 44,313,724 (GRCm39) missense probably benign 0.00
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
Posted On 2016-08-02