Mutagenetix > Incidental Mutation

Incidental Mutation 'R4463:Slc2a4'

330238

Institutional Source

Beutler Lab

Gene Symbol

Slc2a4

Ensembl Gene

ENSMUSG00000018566

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 4

Synonyms

Glut-4, Glut4

MMRRC Submission

041721-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R4463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69942539-69948188 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 69943322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000135437] [ENSMUST00000141837] [ENSMUST00000142500] [ENSMUST00000149194] [ENSMUST00000178363] [ENSMUST00000179298]

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

probably benign
Transcript: ENSMUST00000018710

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566

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: ENSMUST00000130377

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 benign
Transcript: ENSMUST00000141837

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152487

Predicted Effect

probably benign
Transcript: ENSMUST00000178363

SMART Domains

Protein: ENSMUSP00000136455
Gene: ENSMUSG00000018566

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178809

Predicted Effect

probably benign
Transcript: ENSMUST00000179298

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (57/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,150,719	M1197V	probably benign	Het
Abcb1a	T	C	5: 8,719,981		probably benign	Het
Abcc8	T	C	7: 46,106,581		probably null	Het
Alox12e	A	G	11: 70,318,256	L388P	probably damaging	Het
Aspm	T	A	1: 139,455,010	S27T	possibly damaging	Het
Capn2	G	A	1: 182,479,764		probably benign	Het
Catspere1	G	A	1: 177,937,713		noncoding transcript	Het
Ccdc158	T	C	5: 92,634,300	D820G	probably null	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Chd9	T	A	8: 90,978,999	D761E	probably benign	Het
Chst8	T	C	7: 34,675,220	D398G	probably damaging	Het
Clns1a	T	C	7: 97,720,949		probably benign	Het
Cyp3a57	A	T	5: 145,381,274	Y355F	probably damaging	Het
Cyp4f37	A	G	17: 32,627,736		probably null	Het
Eipr1	G	A	12: 28,859,339	A202T	probably damaging	Het
Fam83a	T	C	15: 57,995,259	S232P	probably damaging	Het
Fastkd2	C	T	1: 63,735,809		probably benign	Het
Fgfr4	G	A	13: 55,156,467	V107I	probably benign	Het
Gatad1	G	T	5: 3,647,404	S72R	probably benign	Het
Gli2	T	C	1: 118,836,008	D1471G	probably damaging	Het
Gm1330	A	T	2: 149,003,144	Y36*	probably null	Het
Gm2056	A	G	12: 88,027,359	D119G	probably benign	Het
Gm29125	T	C	1: 80,383,186		noncoding transcript	Het
Idi1	G	A	13: 8,887,472		probably benign	Het
Itgbl1	C	T	14: 123,840,668	T190I	probably damaging	Het
Kbtbd3	G	A	9: 4,331,257	G544R	probably damaging	Het
Kifc3	T	C	8: 95,102,116	T638A	probably damaging	Het
Lama1	G	A	17: 67,761,700	C798Y	probably damaging	Het
Larp6	C	A	9: 60,736,996	H140N	probably damaging	Het
Mctp1	A	T	13: 76,712,087	D108V	probably damaging	Het
Myzap	G	T	9: 71,555,651	D204E	probably benign	Het
Neb	GCC	GC	2: 52,279,722		probably null	Het
Olfr1189	T	C	2: 88,592,632	V276A	possibly damaging	Het
Olfr1340	T	C	4: 118,726,658	V137A	probably benign	Het
Olfr352	T	C	2: 36,870,193	I209T	probably benign	Het
Phka1	A	G	X: 102,545,384	V818A	probably benign	Het
Plek	T	C	11: 16,981,873	Y326C	possibly damaging	Het
Pp2d1	A	G	17: 53,515,858	I60T	probably benign	Het
Prmt3	T	C	7: 49,818,089	Y348H	probably damaging	Het
Psg27	G	T	7: 18,557,085	Q398K	possibly damaging	Het
Raver1	T	C	9: 21,091,827	T51A	probably benign	Het
Ripk2	T	C	4: 16,151,968	N197S	possibly damaging	Het
Sectm1a	T	A	11: 121,069,651	I113L	probably benign	Het
Snph	A	T	2: 151,594,115	S229T	probably damaging	Het
Stpg4	A	G	17: 87,389,673	F183L	probably benign	Het
Tango6	A	T	8: 106,689,074	T176S	probably benign	Het
Vmn1r196	A	G	13: 22,293,683	Q164R	probably benign	Het
Vstm4	T	A	14: 32,917,876	L236Q	probably damaging	Het
Xylb	A	G	9: 119,386,367	D462G	probably benign	Het
Zc2hc1c	A	G	12: 85,290,297	R243G	probably damaging	Het

Other mutations in Slc2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Slc2a4	APN	11	69945956	splice site	probably benign
IGL01448:Slc2a4	APN	11	69945076	missense	possibly damaging	0.80
IGL01593:Slc2a4	APN	11	69944828	missense	probably damaging	0.98
IGL02188:Slc2a4	APN	11	69946330	start codon destroyed	probably null	0.00
IGL02738:Slc2a4	APN	11	69946114	missense	probably damaging	1.00
R0282:Slc2a4	UTSW	11	69946355	missense	probably damaging	1.00
R0317:Slc2a4	UTSW	11	69946356	missense	probably damaging	1.00
R0709:Slc2a4	UTSW	11	69946159	missense	possibly damaging	0.92
R1598:Slc2a4	UTSW	11	69945018	missense	probably benign	0.00
R1800:Slc2a4	UTSW	11	69946307	missense	probably benign	0.08
R1885:Slc2a4	UTSW	11	69945007	missense	probably benign	0.03
R1893:Slc2a4	UTSW	11	69946572	missense	probably damaging	1.00
R2439:Slc2a4	UTSW	11	69945625	missense	possibly damaging	0.93
R2847:Slc2a4	UTSW	11	69946171	missense	probably damaging	1.00
R2849:Slc2a4	UTSW	11	69946171	missense	probably damaging	1.00
R2865:Slc2a4	UTSW	11	69946116	missense	probably damaging	1.00
R3001:Slc2a4	UTSW	11	69945925	nonsense	probably null
R3002:Slc2a4	UTSW	11	69945925	nonsense	probably null
R4455:Slc2a4	UTSW	11	69943322	unclassified	probably benign
R4456:Slc2a4	UTSW	11	69943322	unclassified	probably benign
R4622:Slc2a4	UTSW	11	69944774	unclassified	probably benign
R4822:Slc2a4	UTSW	11	69946587	missense	probably damaging	1.00
R5695:Slc2a4	UTSW	11	69946391	missense	probably damaging	1.00
R6348:Slc2a4	UTSW	11	69945022	missense	probably benign	0.03
R7294:Slc2a4	UTSW	11	69945399	missense	probably benign	0.00
R7315:Slc2a4	UTSW	11	69946433	missense	probably damaging	0.99
R7492:Slc2a4	UTSW	11	69946376	missense	probably benign	0.42
R8060:Slc2a4	UTSW	11	69945010	missense	possibly damaging	0.68
R9103:Slc2a4	UTSW	11	69945392	missense	probably benign	0.24
R9416:Slc2a4	UTSW	11	69945902	missense	probably benign	0.04
R9565:Slc2a4	UTSW	11	69946347	missense	probably damaging	1.00
R9582:Slc2a4	UTSW	11	69946624	missense	probably damaging	0.98
X0067:Slc2a4	UTSW	11	69944256	missense	probably benign	0.11
Z1186:Slc2a4	UTSW	11	69943991	frame shift	probably null
Z1186:Slc2a4	UTSW	11	69943992	unclassified	probably benign
Z1186:Slc2a4	UTSW	11	69943993	frame shift	probably null
Z1187:Slc2a4	UTSW	11	69943992	unclassified	probably benign
Z1187:Slc2a4	UTSW	11	69943993	frame shift	probably null
Z1188:Slc2a4	UTSW	11	69943992	unclassified	probably benign
Z1188:Slc2a4	UTSW	11	69943993	frame shift	probably null
Z1189:Slc2a4	UTSW	11	69943992	unclassified	probably benign
Z1189:Slc2a4	UTSW	11	69943993	frame shift	probably null
Z1190:Slc2a4	UTSW	11	69943993	frame shift	probably null
Z1191:Slc2a4	UTSW	11	69943992	unclassified	probably benign
Z1191:Slc2a4	UTSW	11	69943993	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTAGAGCTGAGTCTGGG -3'
(R):5'- AAGTGCCTGAAACCAGAGGC -3'

Sequencing Primer
(F):5'- CGGAGAAAGCCCATCTAGGTG -3'
(R):5'- CCGGACGTTTGACCAGATCTC -3'

Posted On

2015-07-21