Incidental Mutation 'R7579:Slc37a4'
ID 586643
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 045633-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7579 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44308243-44314263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44312818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 324 (S324N)
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 benign
Transcript: ENSMUST00000165839
AA Change: S324N

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: S324N

DomainStartEndE-ValueType
Pfam:MFS_1 17 381 3.5e-48 PFAM
transmembrane domain 395 417 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213268
AA Change: S324N

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213388
AA Change: S324N

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215001
Predicted Effect probably benign
Transcript: ENSMUST00000215121
Predicted Effect probably benign
Transcript: ENSMUST00000215420
AA Change: S324N

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217084
Predicted Effect probably benign
Transcript: ENSMUST00000217163
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 G T 7: 119,292,933 (GRCm39) R21L probably benign Het
Adgb T A 10: 10,286,562 (GRCm39) R120* probably null Het
Adgra3 C A 5: 50,144,977 (GRCm39) A539S probably benign Het
Ank2 A G 3: 126,740,047 (GRCm39) S1946P unknown Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc20b A T 13: 113,173,582 (GRCm39) probably null Het
Cfh T G 1: 140,036,328 (GRCm39) D730A possibly damaging Het
Dennd1a T C 2: 37,748,444 (GRCm39) H345R probably damaging Het
Dhx36 T C 3: 62,388,294 (GRCm39) S614G possibly damaging Het
Dio1 C T 4: 107,149,583 (GRCm39) V240I possibly damaging Het
Dnah12 A G 14: 26,492,460 (GRCm39) D1200G probably benign Het
Dpy19l4 A T 4: 11,265,909 (GRCm39) S680T probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Fcrlb T C 1: 170,735,416 (GRCm39) probably null Het
Gad1 T A 2: 70,417,476 (GRCm39) I253K possibly damaging Het
Gars1 A G 6: 55,054,688 (GRCm39) D665G probably damaging Het
Gldn A G 9: 54,245,648 (GRCm39) T400A probably benign Het
Gm1110 C A 9: 26,795,122 (GRCm39) V455L possibly damaging Het
Gm11444 A G 11: 85,741,069 (GRCm39) V30A unknown Het
Gm5134 T C 10: 75,800,271 (GRCm39) S51P probably damaging Het
Gprc6a C T 10: 51,502,883 (GRCm39) A327T probably benign Het
Gstt2 A T 10: 75,670,019 (GRCm39) D34E probably benign Het
Icam2 A G 11: 106,271,589 (GRCm39) F78L probably damaging Het
Jakmip1 T G 5: 37,284,802 (GRCm39) C630G possibly damaging Het
Kcnu1 A T 8: 26,386,686 (GRCm39) N523I probably damaging Het
Klf10 A G 15: 38,297,282 (GRCm39) S253P probably benign Het
Mmd2 A T 5: 142,594,361 (GRCm39) M1K probably null Het
Mroh2b G T 15: 4,960,543 (GRCm39) G759C probably benign Het
Or10w3 T C 19: 13,704,465 (GRCm39) L280P probably damaging Het
Or2b7 A T 13: 21,740,176 (GRCm39) N5K probably benign Het
Or8k32 C T 2: 86,368,872 (GRCm39) C127Y probably damaging Het
Orc5 A G 5: 22,755,197 (GRCm39) F22S possibly damaging Het
Prlr A G 15: 10,329,021 (GRCm39) I499V probably benign Het
Ptbp1 A G 10: 79,694,954 (GRCm39) N94S probably benign Het
Rassf3 C A 10: 121,312,103 (GRCm39) probably benign Het
Rbm33 C T 5: 28,573,264 (GRCm39) P455S probably damaging Het
Sgcd C G 11: 47,016,481 (GRCm39) G127A possibly damaging Het
Slc22a13 A G 9: 119,024,226 (GRCm39) I336T possibly damaging Het
Slc25a31 A T 3: 40,679,471 (GRCm39) D312V possibly damaging Het
Slco1a5 A G 6: 142,221,207 (GRCm39) V13A probably benign Het
Srgap2 T C 1: 131,220,371 (GRCm39) H907R probably damaging Het
Supv3l1 A C 10: 62,271,487 (GRCm39) V381G probably damaging Het
Supv3l1 C A 10: 62,271,488 (GRCm39) V381L possibly damaging Het
Syne1 T C 10: 5,299,324 (GRCm39) D977G probably damaging Het
Syt3 T A 7: 44,040,272 (GRCm39) Y168* probably null Het
Tshz1 A T 18: 84,032,790 (GRCm39) Y539* probably null Het
Ttll13 A G 7: 79,907,981 (GRCm39) K501R probably benign Het
Ttn G A 2: 76,612,732 (GRCm39) Q17116* probably null Het
Vcan T C 13: 89,840,577 (GRCm39) T1656A probably damaging Het
Vmn1r73 G T 7: 11,491,082 (GRCm39) C300F probably benign Het
Vmn2r9 T C 5: 108,992,948 (GRCm39) K521E probably damaging Het
Zdhhc11 T A 13: 74,130,885 (GRCm39) probably benign Het
Zfp760 T C 17: 21,941,907 (GRCm39) S361P possibly damaging Het
Zranb2 A G 3: 157,246,309 (GRCm39) Y114C 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
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
Predicted Primers PCR Primer
(F):5'- AAGACCTGTCAGCAATAGCC -3'
(R):5'- GCAGGAGTCCAGAAAGCATC -3'

Sequencing Primer
(F):5'- AATAGCCCTGCTGTGTCAGAGTC -3'
(R):5'- GTCCAGAAAGCATCCTAGAGAGC -3'
Posted On 2019-10-24