Incidental Mutation 'R3001:Slc2a4'
ID 477351
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 040530-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R3001 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69833365-69839014 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 69836751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 159 (Y159*)
Ref Sequence ENSEMBL: ENSMUSP00000136726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000135437] [ENSMUST00000141837] [ENSMUST00000142500] [ENSMUST00000179298] [ENSMUST00000178363] [ENSMUST00000149194]
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 null
Transcript: ENSMUST00000018710
AA Change: Y159*
SMART Domains Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: Y159*

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 benign
Transcript: ENSMUST00000135437
SMART Domains Protein: ENSMUSP00000137092
Gene: ENSMUSG00000018566

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 57 5.3e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000141837
AA Change: Y159*
SMART Domains Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: Y159*

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 null
Transcript: ENSMUST00000142500
AA Change: Y2*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178809
Predicted Effect probably null
Transcript: ENSMUST00000179298
AA Change: Y159*
SMART Domains Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: Y159*

DomainStartEndE-ValueType
Pfam:Sugar_tr 26 242 6.9e-65 PFAM
Pfam:MFS_1 27 239 2e-10 PFAM
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: ENSMUST00000152487
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 85,973,802 (GRCm39) W40R possibly damaging Het
A2m A G 6: 121,638,406 (GRCm39) S873G possibly damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adcy6 T C 15: 98,494,541 (GRCm39) T767A probably benign Het
Bnip3 T C 7: 138,496,430 (GRCm39) I93V probably benign Het
Casq2 A G 3: 102,052,517 (GRCm39) D269G probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Chrd T G 16: 20,556,195 (GRCm39) Y585* probably null Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Dnai2 C T 11: 114,641,297 (GRCm39) P374L probably damaging Het
Eif4g1 T A 16: 20,511,134 (GRCm39) F1289I probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Fasn T C 11: 120,700,671 (GRCm39) D2114G probably benign Het
Fbxl17 T A 17: 63,532,072 (GRCm39) E590D probably damaging Het
Flnb G T 14: 7,907,162 (GRCm38) R1245L probably benign Het
Folh1 A C 7: 86,372,519 (GRCm39) I678M probably damaging Het
Hal G A 10: 93,343,381 (GRCm39) A542T probably damaging Het
Hs3st2 T A 7: 121,099,910 (GRCm39) M252K probably damaging Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klhdc1 T A 12: 69,302,983 (GRCm39) V173D possibly damaging Het
Knop1 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTC 7: 118,451,672 (GRCm39) probably benign Het
Krt71 C T 15: 101,648,906 (GRCm39) probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lnx2 A G 5: 146,955,825 (GRCm39) V657A probably benign Het
Lrig1 G A 6: 94,585,758 (GRCm39) S810L probably damaging Het
Lyst A T 13: 13,871,290 (GRCm39) M2676L probably benign Het
Mindy4 T A 6: 55,195,349 (GRCm39) S188T probably benign Het
Mrgprb3 C T 7: 48,293,232 (GRCm39) M106I probably benign Het
Ncam1 A G 9: 49,468,526 (GRCm39) I311T probably damaging Het
Ndufa8 T A 2: 35,926,571 (GRCm39) E155V possibly damaging Het
Nr4a1 A G 15: 101,168,853 (GRCm39) probably null Het
Or2a12 A G 6: 42,904,888 (GRCm39) H241R probably damaging Het
Orc3 T C 4: 34,571,790 (GRCm39) T660A probably benign Het
Otub2 T C 12: 103,370,536 (GRCm39) S273P probably damaging Het
Otulinl T C 15: 27,664,792 (GRCm39) T55A probably benign Het
Phf11c A G 14: 59,622,289 (GRCm39) L241P probably damaging Het
Pik3ca T A 3: 32,516,946 (GRCm39) I1058N probably damaging Het
Pkd2l1 A G 19: 44,143,996 (GRCm39) F359S possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Polr1a T A 6: 71,942,628 (GRCm39) V1156E probably benign Het
Polr1a A G 6: 71,890,000 (GRCm39) N73S probably benign Het
Pon2 A G 6: 5,268,976 (GRCm39) probably null Het
Ptcd1 G A 5: 145,096,386 (GRCm39) L236F probably damaging Het
Rgl2 A G 17: 34,151,579 (GRCm39) I208V probably benign Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Sacm1l T C 9: 123,414,149 (GRCm39) probably benign Het
Sec14l5 A G 16: 4,989,746 (GRCm39) Y230C probably damaging Het
Sele G T 1: 163,881,140 (GRCm39) G447C probably damaging Het
Slc17a1 G A 13: 24,062,564 (GRCm39) probably null Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Tdrd1 C A 19: 56,850,182 (GRCm39) Y981* probably null Het
Tex15 T C 8: 34,064,556 (GRCm39) Y1329H probably benign Het
Tgif2 C G 2: 156,686,114 (GRCm39) S2W probably damaging Het
Thoc5 A G 11: 4,878,688 (GRCm39) M620V probably benign Het
Tmeff2 C T 1: 51,220,994 (GRCm39) A323V probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A C 4: 3,569,588 (GRCm39) L34W probably damaging Het
Tmtc4 A T 14: 123,170,230 (GRCm39) probably null Het
Trpm2 A T 10: 77,766,368 (GRCm39) probably null Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Tyk2 C A 9: 21,020,617 (GRCm39) R938L probably benign Het
Usp33 A T 3: 152,063,579 (GRCm39) T18S probably damaging Het
V1rd19 A T 7: 23,703,310 (GRCm39) I259F probably benign Het
Vmn2r24 A C 6: 123,781,231 (GRCm39) Q479P probably benign Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Wfdc6a C T 2: 164,422,225 (GRCm39) V125I probably benign Het
Xpo7 A G 14: 70,930,085 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,077 (GRCm39) C369R probably damaging 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
R2847:Slc2a4 UTSW 11 69,836,997 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2017-05-15