Mutagenetix > Incidental Mutation

Incidental Mutation 'R6368:Slc2a6'

512775

Institutional Source

Beutler Lab

Gene Symbol

Slc2a6

Ensembl Gene

ENSMUSG00000036067

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 6

Synonyms

Glut6, F630103L12Rik

MMRRC Submission

044518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6368 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

26911375-26918010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26914599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 256 (Q256K)

Ref Sequence

ENSEMBL: ENSMUSP00000099954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000114003] [ENSMUST00000114006] [ENSMUST00000114007] [ENSMUST00000153388]

AlphaFold

Q3UDF0

Predicted Effect

probably benign
Transcript: ENSMUST00000045702
AA Change: Q256K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: Q256K

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	439	4.1e-25	PFAM
Pfam:Sugar_tr	39	488	8.4e-87	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102890
AA Change: Q256K

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067
AA Change: Q256K

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	382	5.3e-22	PFAM
Pfam:Sugar_tr	39	341	3.4e-61	PFAM
Pfam:Sugar_tr	337	434	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114003

SMART Domains

Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
Cg6151-P	1	80	6.19e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114006

SMART Domains

Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114007

SMART Domains

Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145742

Predicted Effect

probably benign
Transcript: ENSMUST00000153388

SMART Domains

Protein: ENSMUSP00000122054
Gene: ENSMUSG00000036067

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,897,416 (GRCm39)	E272D	possibly damaging	Het
Abi2	A	G	1: 60,492,810 (GRCm39)	T158A	possibly damaging	Het
Acacb	T	C	5: 114,354,884 (GRCm39)	S1221P	probably damaging	Het
Agbl1	A	G	7: 76,069,578 (GRCm39)	D370G	probably benign	Het
Apeh	A	G	9: 107,964,442 (GRCm39)	I487T	probably damaging	Het
Arid1b	C	A	17: 5,382,808 (GRCm39)	N1297K	possibly damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atp7b	A	C	8: 22,510,771 (GRCm39)		probably null	Het
Bsn	C	T	9: 107,988,513 (GRCm39)		probably benign	Het
Caps2	C	T	10: 112,030,873 (GRCm39)	Q268*	probably null	Het
Cnfn	C	T	7: 25,067,386 (GRCm39)		probably null	Het
Cr2	A	G	1: 194,850,780 (GRCm39)	S229P	probably damaging	Het
Cubn	T	C	2: 13,435,806 (GRCm39)	Y1050C	probably damaging	Het
Cubn	T	C	2: 13,480,934 (GRCm39)	E307G	probably damaging	Het
Cyb5r3	A	C	15: 83,044,325 (GRCm39)	Y182D	possibly damaging	Het
Dclre1a	A	T	19: 56,535,223 (GRCm39)	H120Q	probably benign	Het
Ddx6	T	C	9: 44,547,073 (GRCm39)	I457T	probably damaging	Het
E2f1	A	T	2: 154,406,396 (GRCm39)	H93Q	possibly damaging	Het
Fam186a	T	C	15: 99,841,198 (GRCm39)	K1682R	possibly damaging	Het
Farsb	A	G	1: 78,443,602 (GRCm39)		probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Galntl6	T	G	8: 59,364,475 (GRCm39)	T12P	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm21680	T	C	5: 26,174,034 (GRCm39)	N190S	probably damaging	Het
Ifit1bl2	T	C	19: 34,596,525 (GRCm39)	S364G	probably benign	Het
Kdm2a	A	G	19: 4,400,345 (GRCm39)	I234T	probably damaging	Het
Kdm5b	T	C	1: 134,526,945 (GRCm39)	C356R	probably damaging	Het
Kel	A	T	6: 41,665,785 (GRCm39)	C174*	probably null	Het
Krt16	T	A	11: 100,137,502 (GRCm39)	D401V	probably damaging	Het
Ltb4r1	A	C	14: 56,005,200 (GRCm39)	I168L	probably benign	Het
Luzp1	T	A	4: 136,269,091 (GRCm39)	M438K	probably benign	Het
Mtf1	C	T	4: 124,718,145 (GRCm39)	T281M	probably damaging	Het
Myo9a	T	A	9: 59,832,231 (GRCm39)	S2587T	probably benign	Het
Or13a21	G	T	7: 139,999,580 (GRCm39)	Y35*	probably null	Het
Or1ad1	T	A	11: 50,875,613 (GRCm39)	F28L	probably benign	Het
Or4f58	A	T	2: 111,851,896 (GRCm39)	I101N	probably damaging	Het
Or7e169	T	C	9: 19,757,705 (GRCm39)	D70G	probably damaging	Het
Pcm1	T	A	8: 41,746,581 (GRCm39)	F1221Y	probably benign	Het
Pnldc1	A	T	17: 13,124,751 (GRCm39)	N90K	probably damaging	Het
Prickle2	A	T	6: 92,397,218 (GRCm39)	L169Q	probably damaging	Het
Ralgps2	A	T	1: 156,712,144 (GRCm39)	L147I	probably damaging	Het
Rfx3	A	T	19: 27,746,009 (GRCm39)	L674Q	possibly damaging	Het
Rpl3	C	A	15: 79,966,745 (GRCm39)	L14F	probably damaging	Het
Rrbp1	C	T	2: 143,831,475 (GRCm39)	G231R	probably damaging	Het
Sema3d	C	T	5: 12,620,980 (GRCm39)	L529F	probably damaging	Het
Slain1	A	T	14: 103,894,391 (GRCm39)	T193S	probably benign	Het
Slk	A	G	19: 47,608,622 (GRCm39)	E525G	possibly damaging	Het
Spsb4	G	T	9: 96,826,698 (GRCm39)	Q252K	probably benign	Het
Taf1b	A	G	12: 24,608,256 (GRCm39)	T552A	possibly damaging	Het
Tmprss15	T	C	16: 78,802,945 (GRCm39)		probably null	Het
Tph2	T	C	10: 115,015,231 (GRCm39)	H177R	probably damaging	Het
Ttll1	A	G	15: 83,373,818 (GRCm39)	S332P	probably damaging	Het
Twf2	T	G	9: 106,090,032 (GRCm39)	N128K	probably benign	Het
Vegfc	T	A	8: 54,634,265 (GRCm39)	C315S	probably damaging	Het
Vmn2r111	T	A	17: 22,790,889 (GRCm39)	K136N	probably benign	Het
Wnk2	T	C	13: 49,214,814 (GRCm39)	E496G	probably damaging	Het
Zfp148	C	A	16: 33,317,568 (GRCm39)	Q705K	probably damaging	Het
Zw10	C	T	9: 48,984,535 (GRCm39)	A539V	probably damaging	Het

Other mutations in Slc2a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01788:Slc2a6	APN	2	26,914,227 (GRCm39)	nonsense	probably null
IGL02892:Slc2a6	APN	2	26,914,305 (GRCm39)	missense	probably benign	0.08
English	UTSW	2	26,913,143 (GRCm39)	nonsense	probably null
R6501:Slc2a6	UTSW	2	26,913,143 (GRCm39)	nonsense	probably null
R6902:Slc2a6	UTSW	2	26,913,172 (GRCm39)	missense	probably benign	0.01
R6944:Slc2a6	UTSW	2	26,916,076 (GRCm39)	missense	probably damaging	1.00
R6993:Slc2a6	UTSW	2	26,917,255 (GRCm39)	missense	probably damaging	1.00
R6999:Slc2a6	UTSW	2	26,916,047 (GRCm39)	frame shift	probably null
R7597:Slc2a6	UTSW	2	26,917,195 (GRCm39)	missense	possibly damaging	0.91
R7629:Slc2a6	UTSW	2	26,914,214 (GRCm39)	missense	probably benign	0.00
R8195:Slc2a6	UTSW	2	26,917,838 (GRCm39)	missense	probably benign
R8469:Slc2a6	UTSW	2	26,914,347 (GRCm39)	missense	probably benign	0.05
R9139:Slc2a6	UTSW	2	26,914,334 (GRCm39)	missense	possibly damaging	0.93
Z1088:Slc2a6	UTSW	2	26,911,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTGAGTCTAGGAGAGGCC -3'
(R):5'- ACTGAAGCCTCTCTCACCAG -3'

Sequencing Primer
(F):5'- TGAGTCTAGGAGAGGCCCAACC -3'
(R):5'- GAAGCCTCTCTCACCAGGTCTG -3'

Posted On

2018-04-27