Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Slc2a4'

211725

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

039913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69833365-69839014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69837398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 49 (Q49R)

Ref Sequence

ENSEMBL: ENSMUSP00000136806 (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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000018710
AA Change: Q49R

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: Q49R

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	1	57	5.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141837
AA Change: Q49R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: Q49R

Domain	Start	End	E-Value	Type
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: ENSMUST00000142500

Predicted Effect

probably damaging
Transcript: ENSMUST00000179298
AA Change: Q49R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: Q49R

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	26	242	6.9e-65	PFAM
Pfam:MFS_1	27	239	2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178363
AA Change: Q49R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136455
Gene: ENSMUSG00000018566
AA Change: Q49R

Domain	Start	End	E-Value	Type
PDB:4PYP\|A	14	50	3e-10	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000152487
AA Change: Q46R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148395

Predicted Effect

probably benign
Transcript: ENSMUST00000149194

SMART Domains

Protein: ENSMUSP00000136684
Gene: ENSMUSG00000018554

Domain	Start	End	E-Value	Type
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

0.2976

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Ep300	T	A	15: 81,515,847 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mdga1	A	T	17: 30,068,200 (GRCm39)	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pbx1	A	T	1: 168,030,979 (GRCm39)	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,259,193 (GRCm39)	V82A	probably benign	Het
Ube2o	C	T	11: 116,439,661 (GRCm39)	V170I	possibly damaging	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	possibly damaging	Het

Other mutations in Slc2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCCACCCACAGAGAAGATG -3'
(R):5'- CCTGAAGGAAGTCAAACATGAC -3'

Sequencing Primer
(F):5'- AGCGTAGTGAGGGTGCC -3'
(R):5'- ATGACTCTACATGACATACCTTCC -3'

Posted On

2014-06-30