Incidental Mutation 'R8435:Slc37a4'
ID 653956
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
MMRRC Submission 067824-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8435 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44308243-44314263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44310759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 121 (C121Y)
Ref Sequence ENSEMBL: ENSMUSP00000148956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000165839] [ENSMUST00000213268] [ENSMUST00000213388] [ENSMUST00000215001] [ENSMUST00000215121] [ENSMUST00000215420] [ENSMUST00000217084] [ENSMUST00000217163]
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 probably damaging
Transcript: ENSMUST00000165839
AA Change: C121Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: C121Y

DomainStartEndE-ValueType
Pfam:MFS_1 17 381 3.5e-48 PFAM
transmembrane domain 395 417 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213268
AA Change: C121Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213388
AA Change: C121Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215001
Predicted Effect probably benign
Transcript: ENSMUST00000215121
Predicted Effect probably damaging
Transcript: ENSMUST00000215420
AA Change: C121Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 99.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik G T 12: 24,146,881 (GRCm39) T30K possibly damaging Het
Adam20 C T 8: 41,248,072 (GRCm39) P61S probably damaging Het
Akip1 C T 7: 109,304,193 (GRCm39) S90L unknown Het
Atp13a5 C T 16: 29,099,747 (GRCm39) probably null Het
Atp1a1 A G 3: 101,490,078 (GRCm39) Y684H probably benign Het
Bach2 T A 4: 32,501,682 (GRCm39) C20S possibly damaging Het
Cage1 T C 13: 38,203,161 (GRCm39) I634M possibly damaging Het
Cckbr T C 7: 105,075,280 (GRCm39) S17P probably benign Het
Celsr2 T C 3: 108,321,715 (GRCm39) T366A probably benign Het
Cps1 G A 1: 67,251,589 (GRCm39) V1196I probably benign Het
Ddc A T 11: 11,814,902 (GRCm39) S188T probably damaging Het
Eml4 T C 17: 83,729,070 (GRCm39) C82R possibly damaging Het
Fig4 T A 10: 41,161,670 (GRCm39) H31L probably benign Het
Fkbp5 T C 17: 28,621,752 (GRCm39) D366G possibly damaging Het
Ift80 A G 3: 68,892,787 (GRCm39) S134P probably damaging Het
Lacc1 A T 14: 77,272,475 (GRCm39) V107D possibly damaging Het
Lcp2 A G 11: 34,004,316 (GRCm39) E51G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lrp1 A G 10: 127,392,199 (GRCm39) Y2815H probably damaging Het
Lrp4 T C 2: 91,307,998 (GRCm39) L481P probably damaging Het
Ltbp4 C A 7: 27,034,870 (GRCm39) R97L unknown Het
Mbnl1 G A 3: 60,437,090 (GRCm39) W13* probably null Het
Neb T A 2: 52,157,729 (GRCm39) T2293S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Odr4 T G 1: 150,258,020 (GRCm39) K205T possibly damaging Het
Or56b1 A T 7: 104,285,657 (GRCm39) T259S probably benign Het
Or5v1 A G 17: 37,809,676 (GRCm39) I45V probably benign Het
Or8a1b T A 9: 37,622,846 (GRCm39) H243L probably damaging Het
Pcmt1 G A 10: 7,515,825 (GRCm39) P221L possibly damaging Het
Plag1 T A 4: 3,905,648 (GRCm39) D14V probably benign Het
Ppp4r3a A G 12: 101,049,048 (GRCm39) S28P probably benign Het
Rab11fip5 T A 6: 85,314,522 (GRCm39) I1232F possibly damaging Het
Rpl18a C T 8: 71,348,341 (GRCm39) G114D possibly damaging Het
Rtel1 A G 2: 180,995,897 (GRCm39) D927G possibly damaging Het
Shcbp1 C T 8: 4,798,734 (GRCm39) C395Y probably benign Het
Slc22a28 T A 19: 8,048,565 (GRCm39) T361S probably benign Het
Slc35f5 C T 1: 125,488,994 (GRCm39) R5* probably null Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tc2n C T 12: 101,615,376 (GRCm39) W483* probably null Het
Tex101 G A 7: 24,367,791 (GRCm39) T187I probably damaging Het
Trpc6 T C 9: 8,610,441 (GRCm39) L303P probably damaging Het
Trpv5 A T 6: 41,647,827 (GRCm39) Y329N probably damaging Het
Tshz1 C A 18: 84,032,149 (GRCm39) S753I probably damaging Het
Ttn G A 2: 76,546,264 (GRCm39) T32383I probably damaging Het
Txlnb A G 10: 17,703,544 (GRCm39) E234G probably damaging Het
Vmn1r120 T A 7: 20,787,557 (GRCm39) R51S probably benign Het
Vmn2r17 A T 5: 109,576,172 (GRCm39) T348S probably benign Het
Zdhhc21 T C 4: 82,753,714 (GRCm39) Y158C probably damaging Het
Zfp236 C T 18: 82,658,366 (GRCm39) G632D probably damaging Het
Other mutations in Slc37a4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R8339:Slc37a4 UTSW 9 44,313,724 (GRCm39) missense probably benign 0.00
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'- TCAGCAAGTTTGTGAGCGGG -3'
(R):5'- AGAGTGCTTCTACTTGGCG -3'

Sequencing Primer
(F):5'- GGTTCTGTCAGATCAGATGAGC -3'
(R):5'- AGCCCAGTCCCTCGTCTG -3'
Posted On 2020-10-20