Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Slc2a4'

209466

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

039906-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R1885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69833365-69839014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69835833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 339 (V339I)

Ref Sequence

ENSEMBL: ENSMUSP00000136806 (fasta)

Gene Model

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

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
AA Change: V339I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: V339I

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
AA Change: V339I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: V339I

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

noncoding transcript
Transcript: ENSMUST00000178809

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: 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

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

Coding Region Coverage

1x: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,721,280 (GRCm39)	A205D	probably benign	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Esrp2	A	G	8: 106,858,453 (GRCm39)	V636A	possibly damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fer	T	A	17: 64,445,909 (GRCm39)	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pes1	A	G	11: 3,919,482 (GRCm39)	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (GRCm39)		probably null	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
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
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'- CAGAGCCACGGTCATCAAGATG -3'
(R):5'- TAGCATTCAGGCTCAGTCTGG -3'

Sequencing Primer
(F):5'- ACAGCCACACATGCCGG -3'
(R):5'- CATTCAGGCTCAGTCTGGTTTGG -3'

Posted On

2014-06-30