Incidental Mutation 'R2847:Slc2a4'
ID 251739
Institutional Source Beutler Lab
Gene Symbol Slc2a4
Ensembl Gene ENSMUSG00000018566
Gene Name solute carrier family 2 (facilitated glucose transporter), member 4
Synonyms Glut4, Glut-4, twgy
MMRRC Submission 040440-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R2847 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69833365-69839014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69836997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 116 (N116Y)
Ref Sequence ENSEMBL: ENSMUSP00000136806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000135437] [ENSMUST00000141837] [ENSMUST00000179298] [ENSMUST00000178363] [ENSMUST00000149194] [ENSMUST00000142500]
AlphaFold P14142
Predicted Effect probably benign
Transcript: ENSMUST00000018698
SMART Domains Protein: ENSMUSP00000018698
Gene: ENSMUSG00000018554

DomainStartEndE-ValueType
low complexity region 2 68 N/A INTRINSIC
low complexity region 71 82 N/A INTRINSIC
CSP 96 164 2.54e-21 SMART
low complexity region 173 212 N/A INTRINSIC
low complexity region 220 242 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
low complexity region 317 339 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000018710
AA Change: N116Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: N116Y

DomainStartEndE-ValueType
Pfam:MFS_1 24 436 3.9e-16 PFAM
Pfam:Sugar_tr 27 483 1.7e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108601
SMART Domains Protein: ENSMUSP00000104242
Gene: ENSMUSG00000018554

DomainStartEndE-ValueType
CSP 19 87 2.54e-21 SMART
low complexity region 96 135 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 197 217 N/A INTRINSIC
low complexity region 240 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118013
Predicted Effect probably damaging
Transcript: ENSMUST00000135437
AA Change: N24Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137092
Gene: ENSMUSG00000018566
AA Change: N24Y

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 57 5.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141837
AA Change: N116Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: N116Y

DomainStartEndE-ValueType
Pfam:MFS_1 24 438 4.7e-17 PFAM
Pfam:Sugar_tr 26 453 6e-140 PFAM
low complexity region 462 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152487
AA Change: Q55L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000179298
AA Change: N116Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: N116Y

DomainStartEndE-ValueType
Pfam:Sugar_tr 26 242 6.9e-65 PFAM
Pfam:MFS_1 27 239 2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148395
Predicted Effect probably benign
Transcript: ENSMUST00000178363
SMART Domains Protein: ENSMUSP00000136455
Gene: ENSMUSG00000018566

DomainStartEndE-ValueType
PDB:4PYP|A 14 50 3e-10 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000149194
SMART Domains Protein: ENSMUSP00000136684
Gene: ENSMUSG00000018554

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 25 47 N/A INTRINSIC
low complexity region 79 99 N/A INTRINSIC
low complexity region 122 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142500
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired glucose metabolism in skeletal muscle and adipose tissue. Mice homozygous for a knock-out allele show premature death associated with cardiac hypertrophy, growth retardation, insulin resistance, reduced adipose tissue deposits, and muscle fatigue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik T C 9: 53,176,089 (GRCm39) noncoding transcript Het
Abca13 T C 11: 9,244,584 (GRCm39) V2149A possibly damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Bub3 C T 7: 131,172,613 (GRCm39) T326M possibly damaging Het
Cd151 T C 7: 141,049,463 (GRCm39) Y57H probably damaging Het
Cib4 T C 5: 30,645,932 (GRCm39) N112S probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Defb39 C T 8: 19,102,909 (GRCm39) R62H possibly damaging Het
Dennd2b T C 7: 109,124,544 (GRCm39) Q1099R probably damaging Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Efcab12 A G 6: 115,788,072 (GRCm39) I630T probably damaging Het
Erc2 T C 14: 27,762,445 (GRCm39) V736A probably damaging Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fndc9 C T 11: 46,128,868 (GRCm39) A129V probably damaging Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Gba2 T C 4: 43,568,000 (GRCm39) probably null Het
Gna12 T A 5: 140,771,348 (GRCm39) D61V probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Grin2b C A 6: 135,717,951 (GRCm39) V714L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Itgb6 T C 2: 60,430,879 (GRCm39) T772A probably damaging Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Mme T A 3: 63,252,620 (GRCm39) N421K possibly damaging Het
Mmp1b C T 9: 7,370,763 (GRCm39) V331I probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nav1 G C 1: 135,378,382 (GRCm39) probably null Het
Nln A G 13: 104,161,533 (GRCm39) M679T probably damaging Het
Or1n1b A G 2: 36,780,536 (GRCm39) L108P probably damaging Het
Or8b53 C T 9: 38,667,332 (GRCm39) T116I possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pax7 T C 4: 139,506,954 (GRCm39) D361G possibly damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Plekhh2 G T 17: 84,905,394 (GRCm39) R1096L probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Robo4 C T 9: 37,315,772 (GRCm39) R342* probably null Het
Sec23ip G A 7: 128,355,797 (GRCm39) V307I probably benign Het
Tas1r3 T A 4: 155,944,659 (GRCm39) Q854L probably benign Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trpm4 A G 7: 44,960,022 (GRCm39) F771S probably damaging Het
Tstd3 A T 4: 21,759,375 (GRCm39) F132L possibly damaging Het
Ulk2 T C 11: 61,715,555 (GRCm39) probably null Het
Unc13b T C 4: 43,180,404 (GRCm39) Y3080H probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vmn2r60 A T 7: 41,785,857 (GRCm39) H220L probably benign Het
Vps13a A G 19: 16,680,963 (GRCm39) S1078P probably damaging Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zdhhc22 T A 12: 87,035,336 (GRCm39) T39S probably benign Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* probably null Het
Other mutations in Slc2a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc2a4 APN 11 69,836,782 (GRCm39) splice site probably benign
IGL01448:Slc2a4 APN 11 69,835,902 (GRCm39) missense possibly damaging 0.80
IGL01593:Slc2a4 APN 11 69,835,654 (GRCm39) missense probably damaging 0.98
IGL02188:Slc2a4 APN 11 69,837,156 (GRCm39) start codon destroyed probably null 0.00
IGL02738:Slc2a4 APN 11 69,836,940 (GRCm39) missense probably damaging 1.00
R0282:Slc2a4 UTSW 11 69,837,181 (GRCm39) missense probably damaging 1.00
R0317:Slc2a4 UTSW 11 69,837,182 (GRCm39) missense probably damaging 1.00
R0709:Slc2a4 UTSW 11 69,836,985 (GRCm39) missense possibly damaging 0.92
R1598:Slc2a4 UTSW 11 69,835,844 (GRCm39) missense probably benign 0.00
R1800:Slc2a4 UTSW 11 69,837,133 (GRCm39) missense probably benign 0.08
R1885:Slc2a4 UTSW 11 69,835,833 (GRCm39) missense probably benign 0.03
R1893:Slc2a4 UTSW 11 69,837,398 (GRCm39) missense probably damaging 1.00
R2439:Slc2a4 UTSW 11 69,836,451 (GRCm39) missense possibly damaging 0.93
R2849:Slc2a4 UTSW 11 69,836,997 (GRCm39) missense probably damaging 1.00
R2865:Slc2a4 UTSW 11 69,836,942 (GRCm39) missense probably damaging 1.00
R3001:Slc2a4 UTSW 11 69,836,751 (GRCm39) nonsense probably null
R3002:Slc2a4 UTSW 11 69,836,751 (GRCm39) nonsense probably null
R4455:Slc2a4 UTSW 11 69,834,148 (GRCm39) unclassified probably benign
R4456:Slc2a4 UTSW 11 69,834,148 (GRCm39) unclassified probably benign
R4463:Slc2a4 UTSW 11 69,834,148 (GRCm39) unclassified probably benign
R4622:Slc2a4 UTSW 11 69,835,600 (GRCm39) unclassified probably benign
R4822:Slc2a4 UTSW 11 69,837,413 (GRCm39) missense probably damaging 1.00
R5695:Slc2a4 UTSW 11 69,837,217 (GRCm39) missense probably damaging 1.00
R6348:Slc2a4 UTSW 11 69,835,848 (GRCm39) missense probably benign 0.03
R7294:Slc2a4 UTSW 11 69,836,225 (GRCm39) missense probably benign 0.00
R7315:Slc2a4 UTSW 11 69,837,259 (GRCm39) missense probably damaging 0.99
R7492:Slc2a4 UTSW 11 69,837,202 (GRCm39) missense probably benign 0.42
R8060:Slc2a4 UTSW 11 69,835,836 (GRCm39) missense possibly damaging 0.68
R9103:Slc2a4 UTSW 11 69,836,218 (GRCm39) missense probably benign 0.24
R9416:Slc2a4 UTSW 11 69,836,728 (GRCm39) missense probably benign 0.04
R9565:Slc2a4 UTSW 11 69,837,173 (GRCm39) missense probably damaging 1.00
R9582:Slc2a4 UTSW 11 69,837,450 (GRCm39) missense probably damaging 0.98
X0067:Slc2a4 UTSW 11 69,835,082 (GRCm39) missense probably benign 0.11
Z1186:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1186:Slc2a4 UTSW 11 69,834,818 (GRCm39) unclassified probably benign
Z1186:Slc2a4 UTSW 11 69,834,817 (GRCm39) frame shift probably null
Z1187:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1187:Slc2a4 UTSW 11 69,834,818 (GRCm39) unclassified probably benign
Z1188:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1188:Slc2a4 UTSW 11 69,834,818 (GRCm39) unclassified probably benign
Z1189:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1189:Slc2a4 UTSW 11 69,834,818 (GRCm39) unclassified probably benign
Z1190:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1191:Slc2a4 UTSW 11 69,834,819 (GRCm39) frame shift probably null
Z1191:Slc2a4 UTSW 11 69,834,818 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGCGATTTCTCCCACATACATGG -3'
(R):5'- TGGGTGGCATGATCTCTTCC -3'

Sequencing Primer
(F):5'- AGCCGAGGATAGCTGCATATTCC -3'
(R):5'- GGCATGATCTCTTCCTTTCTCATTGG -3'
Posted On 2014-12-04