Incidental Mutation 'R6909:Slc37a4'
Institutional Source Beutler Lab
Gene Symbol Slc37a4
Ensembl Gene ENSMUSG00000032114
Gene Namesolute carrier family 37 (glucose-6-phosphate transporter), member 4
SynonymsG6pt1, G6PT
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6909 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location44396852-44402968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44400034 bp
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]
Predicted Effect probably benign
Transcript: ENSMUST00000034623
SMART Domains Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

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

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: 110,115,497 Q1261K probably benign Het
Acpp T C 9: 104,300,965 Y329C probably damaging Het
Agrn G T 4: 156,177,007 H585N possibly damaging Het
Ano1 G A 7: 144,655,731 T211M probably damaging Het
Atic T G 1: 71,576,846 probably null Het
Catsperd T A 17: 56,650,781 S229R probably damaging Het
Ccdc173 A T 2: 69,781,848 probably null Het
Cmya5 T C 13: 93,091,252 T2443A probably benign Het
Dysf A T 6: 84,192,938 E1772V probably damaging Het
Eps8l1 T A 7: 4,469,900 L107* probably null Het
Fam92a T C 4: 12,168,309 T97A probably benign Het
Fpr3 T A 17: 17,971,167 F233L probably benign Het
Gjc2 A T 11: 59,177,092 V188E unknown Het
Gm45861 T A 8: 27,527,081 Y690N unknown Het
Gm8251 C T 1: 44,059,775 R721Q possibly damaging Het
Gsdma2 T A 11: 98,652,557 C224* probably null Het
Gucy2d T A 7: 98,467,625 Y881N probably damaging Het
Hcn3 A G 3: 89,152,629 probably null Het
Hectd1 G T 12: 51,764,162 probably null Het
Ifitm5 A G 7: 140,949,259 F146L probably benign Het
Impg2 T C 16: 56,204,584 F18S probably damaging Het
Ino80c T A 18: 24,108,755 probably benign Het
Itga10 A G 3: 96,662,599 H1109R probably benign Het
Kdm3b T A 18: 34,827,328 probably null Het
Klra8 T G 6: 130,125,160 N104T probably benign Het
Llgl2 G A 11: 115,850,799 C585Y probably damaging Het
Lmod2 T A 6: 24,604,158 D377E probably benign Het
Lrat G A 3: 82,903,654 S20F probably damaging Het
Lrrc43 T A 5: 123,500,419 H363Q probably benign Het
Lyst T G 13: 13,743,375 I3340S probably damaging Het
Magi1 C A 6: 93,697,320 G948W probably damaging Het
Map3k4 A C 17: 12,270,985 F520V probably damaging Het
Mcm4 A T 16: 15,628,697 N607K probably damaging Het
Mta3 T C 17: 83,766,551 V216A possibly damaging Het
Ncor1 C A 11: 62,329,486 G2131V probably damaging Het
Olfr1123 A G 2: 87,418,615 H189R probably damaging Het
Olfr1155 A G 2: 87,942,690 S313P probably benign Het
Olfr373 T A 8: 72,100,528 V256E possibly damaging Het
Olfr827 T A 10: 130,210,753 I126L probably benign Het
Pramef8 T C 4: 143,417,909 L275P probably damaging Het
Ptpn2 A T 18: 67,675,971 probably null Het
Scn10a A G 9: 119,609,790 I1671T probably damaging Het
Scyl2 A T 10: 89,645,742 S622T probably benign Het
Sim1 C T 10: 50,909,410 R192C possibly damaging Het
Skor2 A G 18: 76,860,557 H658R possibly damaging Het
Slc10a5 A G 3: 10,335,595 S2P possibly damaging Het
Syne2 G T 12: 76,064,195 V5768L probably benign Het
Tdpoz3 T A 3: 93,826,465 V149E probably damaging Het
Tekt5 T C 16: 10,358,301 N460S probably damaging Het
Tk2 G T 8: 104,236,810 Y142* probably null Het
Tkfc T A 19: 10,596,266 Q236L probably benign Het
Tln2 G A 9: 67,392,532 T148I probably damaging Het
Trim62 A G 4: 128,884,228 D20G probably damaging Het
Tspan14 A C 14: 40,913,441 V166G probably benign Het
Ttn A T 2: 76,881,721 probably benign Het
Vmn1r217 T A 13: 23,113,938 M265L probably benign Het
Vmn2r117 C G 17: 23,479,505 Q31H possibly damaging Het
Wdr66 A G 5: 123,287,752 Y418C probably damaging Het
Zfp72 T C 13: 74,371,742 T406A possibly damaging Het
Other mutations in Slc37a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Slc37a4 APN 9 44399964 missense probably damaging 1.00
IGL03380:Slc37a4 APN 9 44400023 missense probably benign 0.00
R1875:Slc37a4 UTSW 9 44401511 missense probably damaging 0.98
R4721:Slc37a4 UTSW 9 44401490 missense possibly damaging 0.67
R5502:Slc37a4 UTSW 9 44402097 missense probably benign
R6395:Slc37a4 UTSW 9 44399279 missense probably damaging 1.00
R7579:Slc37a4 UTSW 9 44401521 missense probably benign 0.40
R8187:Slc37a4 UTSW 9 44399994 missense possibly damaging 0.47
R8339:Slc37a4 UTSW 9 44402427 missense probably benign 0.00
R8435:Slc37a4 UTSW 9 44399462 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-11-06