Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Slc2a4'

580860

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

045566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69833365-69839014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69837202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 78 (T78I)

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 benign
Transcript: ENSMUST00000018710
AA Change: T78I

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: T78I

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: T78I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: T78I

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 benign
Transcript: ENSMUST00000179298
AA Change: T78I

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: T78I

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
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
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
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'- GACATTGTTGGCCAGCATAG -3'
(R):5'- TGAGTGACCTACCAGCTGTTG -3'

Sequencing Primer
(F):5'- TTTTCCTGGCAGGCACACAG -3'
(R):5'- CCAGCTGTTGGGGTGTG -3'

Posted On

2019-10-17