Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Slc2a4'

567899

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.711) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69942539-69948188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 69946433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 59 (T59R)

Ref Sequence

ENSEMBL: ENSMUSP00000018710 (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 damaging
Transcript: ENSMUST00000018710
AA Change: T59R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: T59R

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

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: T59R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: T59R

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 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

probably damaging
Transcript: ENSMUST00000179298
AA Change: T59R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: T59R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
R4463: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
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'- TTTTCCTGGCAGGCACACAG -3'
(R):5'- CCTTCAGTTTGGCTATAACATTGGG -3'

Sequencing Primer
(F):5'- TCACGACACCCATGCTGTG -3'
(R):5'- TGGGGTTATCAATGCCCCACAG -3'

Posted On

2019-06-26