Mutagenetix > Incidental Mutation

Incidental Mutation 'R1800:Slc2a4'

203060

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

039830-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R1800 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69833365-69839014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69837133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 9 (I9T)

Ref Sequence

ENSEMBL: ENSMUSP00000137092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000135437] [ENSMUST00000141837] [ENSMUST00000142500] [ENSMUST00000179298] [ENSMUST00000149194] [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: I101T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: I101T

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
AA Change: I9T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137092
Gene: ENSMUSG00000018566
AA Change: I9T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141837
AA Change: I101T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: I101T

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: ENSMUST00000179298
AA Change: I101T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: I101T

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

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: 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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,479 (GRCm39)	K556R	probably damaging	Het
4933406P04Rik	A	T	10: 20,186,893 (GRCm39)		probably benign	Het
Acmsd	C	A	1: 127,687,493 (GRCm39)	Y258*	probably null	Het
Adgrf5	A	T	17: 43,761,973 (GRCm39)	I1223F	probably damaging	Het
Afp	C	T	5: 90,638,655 (GRCm39)	P6S	probably benign	Het
Agap2	C	A	10: 126,927,540 (GRCm39)	H1120Q	probably damaging	Het
Angpt1	A	G	15: 42,375,800 (GRCm39)	V152A	probably damaging	Het
Ankrd1	A	T	19: 36,096,759 (GRCm39)	F23I	probably damaging	Het
Armc12	T	C	17: 28,757,869 (GRCm39)	S334P	possibly damaging	Het
Arnt2	C	A	7: 83,924,583 (GRCm39)	D415Y	probably damaging	Het
Cacna1s	G	T	1: 136,004,592 (GRCm39)	V131L	probably benign	Het
Cacna2d2	T	C	9: 107,404,632 (GRCm39)	V1141A	possibly damaging	Het
Cfap61	T	C	2: 145,884,542 (GRCm39)	L580P	probably damaging	Het
Chga	A	T	12: 102,522,164 (GRCm39)	S23C	probably damaging	Het
Chrna5	A	G	9: 54,912,159 (GRCm39)	T320A	probably damaging	Het
Col17a1	G	T	19: 47,639,301 (GRCm39)	N1081K	possibly damaging	Het
Cox7b2	A	T	5: 71,600,406 (GRCm39)	C51S	possibly damaging	Het
Cstdc3	T	A	16: 36,132,895 (GRCm39)	D57E	probably damaging	Het
Cwc22	A	T	2: 77,759,797 (GRCm39)	D83E	possibly damaging	Het
D130043K22Rik	A	C	13: 25,067,877 (GRCm39)	D871A	probably damaging	Het
Dab2	A	T	15: 6,464,948 (GRCm39)	M361L	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnmbp	A	G	19: 43,890,159 (GRCm39)	I536T	probably benign	Het
Ehmt1	A	T	2: 24,774,302 (GRCm39)	S43R	probably damaging	Het
Ercc5	T	C	1: 44,212,540 (GRCm39)	L666P	probably benign	Het
F5	A	G	1: 164,010,403 (GRCm39)	H378R	probably damaging	Het
Fat2	A	T	11: 55,174,718 (GRCm39)	N1998K	probably damaging	Het
Fbxo28	T	C	1: 182,169,099 (GRCm39)	D13G	unknown	Het
Fras1	T	C	5: 96,857,741 (GRCm39)	S2012P	probably benign	Het
Gm5624	T	A	14: 44,799,302 (GRCm39)	N41I	probably damaging	Het
Gm8104	A	G	14: 42,959,028 (GRCm39)	I73V	possibly damaging	Het
Gpr141b	T	C	13: 19,913,849 (GRCm39)		noncoding transcript	Het
Gpr68	G	A	12: 100,845,167 (GRCm39)	P126S	probably damaging	Het
Gucy1a2	A	T	9: 3,582,685 (GRCm39)	T156S	possibly damaging	Het
Hacl1	T	A	14: 31,336,221 (GRCm39)	Y429F	probably damaging	Het
Haus3	A	C	5: 34,320,916 (GRCm39)	L510R	probably damaging	Het
Helq	C	T	5: 100,921,990 (GRCm39)	G738D	probably benign	Het
Hsd3b2	G	C	3: 98,619,553 (GRCm39)	P131A	probably damaging	Het
Il22ra1	G	T	4: 135,475,471 (GRCm39)	C247F	probably benign	Het
Ivl	T	C	3: 92,479,891 (GRCm39)	E58G	unknown	Het
Kcnk9	G	T	15: 72,417,948 (GRCm39)	Q61K	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,490,198 (GRCm39)	A1314S	probably damaging	Het
Lratd1	T	C	12: 14,200,226 (GRCm39)	Y167C	probably damaging	Het
Lrba	A	G	3: 86,259,175 (GRCm39)	I1397V	probably benign	Het
Lrig3	T	A	10: 125,832,920 (GRCm39)		probably null	Het
Lrrc36	A	G	8: 106,176,397 (GRCm39)	D378G	probably damaging	Het
Lrrc49	G	A	9: 60,505,474 (GRCm39)	T527I	probably damaging	Het
Map4k4	C	A	1: 40,062,620 (GRCm39)	T1195K	probably damaging	Het
Mrps33	G	A	6: 39,779,429 (GRCm39)	R89C	probably damaging	Het
Mtor	T	C	4: 148,547,349 (GRCm39)	V444A	probably benign	Het
Myh2	A	G	11: 67,079,764 (GRCm39)	E1046G	probably damaging	Het
Myo15b	G	T	11: 115,771,335 (GRCm39)		probably null	Het
Myo5c	T	C	9: 75,153,446 (GRCm39)	Y111H	probably damaging	Het
Ncoa4-ps	A	T	12: 119,225,506 (GRCm39)		noncoding transcript	Het
Ndufv2	G	C	17: 66,390,481 (GRCm39)	T163R	probably damaging	Het
Nf1	A	G	11: 79,444,794 (GRCm39)	N373S	possibly damaging	Het
Nwd2	A	G	5: 63,962,917 (GRCm39)	M834V	probably benign	Het
Ogfod2	T	C	5: 124,253,019 (GRCm39)	V343A	probably damaging	Het
Or11g2	C	T	14: 50,856,143 (GRCm39)	L155F	probably benign	Het
Or11j4	C	A	14: 50,630,786 (GRCm39)	S191*	probably null	Het
Or3a1b	A	T	11: 74,012,234 (GRCm39)	T40S	probably benign	Het
Or4c115	T	A	2: 88,928,050 (GRCm39)	T74S	probably benign	Het
Or51ag1	T	C	7: 103,155,248 (GRCm39)	I302V	possibly damaging	Het
Or52ab2	T	A	7: 102,969,621 (GRCm39)	M1K	probably null	Het
Or8g34	A	T	9: 39,373,410 (GRCm39)	I228F	probably damaging	Het
Parp1	T	A	1: 180,428,091 (GRCm39)		probably null	Het
Ppp3ca	A	T	3: 136,640,792 (GRCm39)	I448F	probably damaging	Het
Prss44	T	C	9: 110,646,272 (GRCm39)	V333A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rars1	A	C	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Rfc1	T	C	5: 65,421,722 (GRCm39)	Y1059C	probably damaging	Het
Rilpl1	T	A	5: 124,652,719 (GRCm39)	I2F	probably damaging	Het
Sarm1	G	T	11: 78,381,820 (GRCm39)	A221E	possibly damaging	Het
Serpina3f	A	G	12: 104,183,665 (GRCm39)	T176A	probably damaging	Het
Slc22a20	T	C	19: 6,035,695 (GRCm39)	E131G	probably benign	Het
Slc26a11	T	C	11: 119,263,979 (GRCm39)	V343A	probably damaging	Het
Slc39a6	G	T	18: 24,718,259 (GRCm39)	D599E	probably damaging	Het
Slc5a6	G	T	5: 31,198,020 (GRCm39)	S285*	probably null	Het
Spata9	A	G	13: 76,125,760 (GRCm39)	H81R	probably benign	Het
St7l	A	G	3: 104,826,812 (GRCm39)	E436G	probably damaging	Het
Tecrl	A	G	5: 83,427,077 (GRCm39)	I357T	probably damaging	Het
Thop1	C	T	10: 80,909,043 (GRCm39)	R25C	probably damaging	Het
Tmprss12	A	G	15: 100,190,428 (GRCm39)	E266G	probably benign	Het
Tpgs1	T	A	10: 79,511,344 (GRCm39)	V162D	possibly damaging	Het
Trpa1	C	T	1: 14,944,648 (GRCm39)	R1032Q	probably benign	Het
Tspan12	A	G	6: 21,795,699 (GRCm39)	Y164H	probably damaging	Het
Ubr4	T	C	4: 139,135,274 (GRCm39)	Y869H	probably damaging	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	Het
Zan	A	T	5: 137,384,713 (GRCm39)	S5104T	unknown	Het
Zfp318	T	C	17: 46,722,980 (GRCm39)	V1661A	probably benign	Het
Zfp365	C	T	10: 67,724,772 (GRCm39)	R372K	probably 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
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
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'- AGTATCTCATAGGAGGCCGC -3'
(R):5'- AGGTCTCTAGAGTTACTCCCATATTC -3'

Sequencing Primer
(F):5'- ATAGGAGGCCGCGGCATTG -3'
(R):5'- TACAATGCAACGTGGCTG -3'

Posted On

2014-06-23