Incidental Mutation 'R6348:Slc2a4'
ID 514453
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 044502-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R6348 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69833365-69839014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69835848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 334 (T334A)
Ref Sequence ENSEMBL: ENSMUSP00000018710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000135437] [ENSMUST00000141837] [ENSMUST00000179298] [ENSMUST00000149194] [ENSMUST00000142500] [ENSMUST00000178363]
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 benign
Transcript: ENSMUST00000018710
AA Change: T334A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: T334A

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: ENSMUST00000130377
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 benign
Transcript: ENSMUST00000141837
AA Change: T334A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: T334A

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: ENSMUST00000179298
SMART Domains Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566

DomainStartEndE-ValueType
Pfam:Sugar_tr 26 242 6.9e-65 PFAM
Pfam:MFS_1 27 239 2e-10 PFAM
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 noncoding transcript
Transcript: ENSMUST00000148395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178809
Predicted Effect probably benign
Transcript: ENSMUST00000142500
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
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 A T 6: 116,391,556 (GRCm39) H400Q probably damaging Het
Arhgef16 G T 4: 154,371,540 (GRCm39) Q218K probably benign Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atic C T 1: 71,615,857 (GRCm39) R468W probably damaging Het
Bfsp2 A T 9: 103,357,271 (GRCm39) V52D probably benign Het
Bicd2 A G 13: 49,533,322 (GRCm39) H636R probably damaging Het
Chac2 A G 11: 30,927,406 (GRCm39) V171A probably damaging Het
Chd9 A G 8: 91,737,903 (GRCm39) I1512V possibly damaging Het
Cnbd1 T C 4: 18,860,462 (GRCm39) D428G probably damaging Het
Crlf1 T C 8: 70,945,990 (GRCm39) S22P probably benign Het
Crybg1 A G 10: 43,879,947 (GRCm39) F414L probably damaging Het
Dnah14 A T 1: 181,454,285 (GRCm39) D765V possibly damaging Het
Fat3 A G 9: 15,849,287 (GRCm39) probably null Het
Gabbr1 A T 17: 37,367,791 (GRCm39) M414L possibly damaging Het
Grip2 A T 6: 91,757,419 (GRCm39) D412E probably damaging Het
Herc1 G A 9: 66,395,258 (GRCm39) A4198T possibly damaging Het
Hsd3b3 C T 3: 98,663,265 (GRCm39) probably null Het
Ifi213 G A 1: 173,417,848 (GRCm39) T188I possibly damaging Het
Il36rn G A 2: 24,169,726 (GRCm39) A29T probably damaging Het
Klk1b11 T C 7: 43,647,275 (GRCm39) probably null Het
Mepce A T 5: 137,783,698 (GRCm39) D209E possibly damaging Het
Mtr A C 13: 12,262,840 (GRCm39) V111G possibly damaging Het
Mtrex T A 13: 113,047,451 (GRCm39) H298L possibly damaging Het
Or2h1b A G 17: 37,462,497 (GRCm39) V122A probably damaging Het
Or8k24 T A 2: 86,216,513 (GRCm39) Q83L probably benign Het
Or9k2b A T 10: 130,016,166 (GRCm39) N194K probably benign Het
P2rx1 G A 11: 72,890,148 (GRCm39) R3Q probably benign Het
Phc2 G A 4: 128,598,944 (GRCm39) G34S probably benign Het
Poglut3 G A 9: 53,301,740 (GRCm39) V131M probably damaging Het
Ppm1a A G 12: 72,837,449 (GRCm39) H332R probably benign Het
Sdk2 A G 11: 113,784,334 (GRCm39) V135A probably benign Het
Slc6a15 T G 10: 103,240,228 (GRCm39) V317G probably damaging Het
Speer2 T C 16: 69,654,895 (GRCm39) D190G possibly damaging Het
Tbc1d21 G A 9: 58,268,501 (GRCm39) A286V probably benign Het
Tmem210 T C 2: 25,178,796 (GRCm39) S82P probably benign Het
Top6bl G C 19: 4,722,106 (GRCm39) P105A probably damaging Het
Zbtb26 C T 2: 37,325,687 (GRCm39) V450M probably benign 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
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
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'- AGCCACGGTCATCAAGATGG -3'
(R):5'- CATTAGCATTCAGGCTCAGTCTGG -3'

Sequencing Primer
(F):5'- GCCAGGCCCAACAGATG -3'
(R):5'- CATTCAGGCTCAGTCTGGTTTGG -3'
Posted On 2018-04-27