Incidental Mutation 'R6909:Slc37a4'
ID 538929
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 045001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6909 (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 T at 44311331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 207 (K207N)
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 possibly damaging
Transcript: ENSMUST00000165839
AA Change: K207N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: K207N

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: K207N

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213388
AA Change: K207N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215001
Predicted Effect probably benign
Transcript: ENSMUST00000215121
Predicted Effect possibly damaging
Transcript: ENSMUST00000215420
AA Change: K207N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000217084
Predicted Effect probably benign
Transcript: ENSMUST00000217163
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,006,323 (GRCm39) Q1261K probably benign Het
Acp3 T C 9: 104,178,164 (GRCm39) Y329C probably damaging Het
Agrn G T 4: 156,261,464 (GRCm39) H585N possibly damaging Het
Ano1 G A 7: 144,209,468 (GRCm39) T211M probably damaging Het
Atic T G 1: 71,616,005 (GRCm39) probably null Het
Catsperd T A 17: 56,957,781 (GRCm39) S229R probably damaging Het
Ccdc168 C T 1: 44,098,935 (GRCm39) R721Q possibly damaging Het
Cfap210 A T 2: 69,612,192 (GRCm39) probably null Het
Cfap251 A G 5: 123,425,815 (GRCm39) Y418C probably damaging Het
Cibar1 T C 4: 12,168,309 (GRCm39) T97A probably benign Het
Cmya5 T C 13: 93,227,760 (GRCm39) T2443A probably benign Het
Dysf A T 6: 84,169,920 (GRCm39) E1772V probably damaging Het
Eps8l1 T A 7: 4,472,899 (GRCm39) L107* probably null Het
Fpr3 T A 17: 18,191,429 (GRCm39) F233L probably benign Het
Gjc2 A T 11: 59,067,918 (GRCm39) V188E unknown Het
Gm45861 T A 8: 28,017,109 (GRCm39) Y690N unknown Het
Gsdma2 T A 11: 98,543,383 (GRCm39) C224* probably null Het
Gucy2d T A 7: 98,116,832 (GRCm39) Y881N probably damaging Het
Hcn3 A G 3: 89,059,936 (GRCm39) probably null Het
Hectd1 G T 12: 51,810,945 (GRCm39) probably null Het
Ifitm5 A G 7: 140,529,172 (GRCm39) F146L probably benign Het
Impg2 T C 16: 56,024,947 (GRCm39) F18S probably damaging Het
Ino80c T A 18: 24,241,812 (GRCm39) probably benign Het
Itga10 A G 3: 96,569,915 (GRCm39) H1109R probably benign Het
Kdm3b T A 18: 34,960,381 (GRCm39) probably null Het
Klra8 T G 6: 130,102,123 (GRCm39) N104T probably benign Het
Llgl2 G A 11: 115,741,625 (GRCm39) C585Y probably damaging Het
Lmod2 T A 6: 24,604,157 (GRCm39) D377E probably benign Het
Lrat G A 3: 82,810,961 (GRCm39) S20F probably damaging Het
Lrrc43 T A 5: 123,638,482 (GRCm39) H363Q probably benign Het
Lyst T G 13: 13,917,960 (GRCm39) I3340S probably damaging Het
Magi1 C A 6: 93,674,301 (GRCm39) G948W probably damaging Het
Map3k4 A C 17: 12,489,872 (GRCm39) F520V probably damaging Het
Mcm4 A T 16: 15,446,561 (GRCm39) N607K probably damaging Het
Mta3 T C 17: 84,073,980 (GRCm39) V216A possibly damaging Het
Ncor1 C A 11: 62,220,312 (GRCm39) G2131V probably damaging Het
Or10ag2 A G 2: 87,248,959 (GRCm39) H189R probably damaging Het
Or2z9 T A 8: 72,854,372 (GRCm39) V256E possibly damaging Het
Or5d16 A G 2: 87,773,034 (GRCm39) S313P probably benign Het
Or9k7 T A 10: 130,046,622 (GRCm39) I126L probably benign Het
Pramel12 T C 4: 143,144,479 (GRCm39) L275P probably damaging Het
Ptpn2 A T 18: 67,809,041 (GRCm39) probably null Het
Scn10a A G 9: 119,438,856 (GRCm39) I1671T probably damaging Het
Scyl2 A T 10: 89,481,604 (GRCm39) S622T probably benign Het
Sim1 C T 10: 50,785,506 (GRCm39) R192C possibly damaging Het
Skor2 A G 18: 76,948,252 (GRCm39) H658R possibly damaging Het
Slc10a5 A G 3: 10,400,655 (GRCm39) S2P possibly damaging Het
Syne2 G T 12: 76,110,969 (GRCm39) V5768L probably benign Het
Tdpoz3 T A 3: 93,733,772 (GRCm39) V149E probably damaging Het
Tekt5 T C 16: 10,176,165 (GRCm39) N460S probably damaging Het
Tk2 G T 8: 104,963,442 (GRCm39) Y142* probably null Het
Tkfc T A 19: 10,573,630 (GRCm39) Q236L probably benign Het
Tln2 G A 9: 67,299,814 (GRCm39) T148I probably damaging Het
Trim62 A G 4: 128,778,021 (GRCm39) D20G probably damaging Het
Tspan14 A C 14: 40,635,398 (GRCm39) V166G probably benign Het
Ttn A T 2: 76,712,065 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn2r117 C G 17: 23,698,479 (GRCm39) Q31H possibly damaging Het
Zfp87 T C 13: 74,519,861 (GRCm39) T406A possibly 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
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
Predicted Primers PCR Primer
(F):5'- GAACCTGGCTGGAAGTTTGG -3'
(R):5'- ATGGAGAGATCTGTGCTGTCAG -3'

Sequencing Primer
(F):5'- TGGGACCTATCTTGGCAACGATC -3'
(R):5'- ATCTGTGCTGTCAGAGAAGGCTC -3'
Posted On 2018-11-06