Mutagenetix > Incidental Mutation

Incidental Mutation 'R4954:Slc2a10'

381457

Institutional Source

Beutler Lab

Gene Symbol

Slc2a10

Ensembl Gene

ENSMUSG00000027661

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 10

Synonyms

Glut10

MMRRC Submission

042551-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165345817-165361837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165356675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 112 (I112F)

Ref Sequence

ENSEMBL: ENSMUSP00000029196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029196]

AlphaFold

Q8VHD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029196
AA Change: I112F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: I112F

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	10	333	1.7e-51	PFAM
Pfam:MFS_1	14	337	1.1e-28	PFAM
Pfam:Sugar_tr	387	508	3.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148463

Meta Mutation Damage Score

0.2506

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes a class III facilitative glucose transporter. Mutations in the related gene in human are associated with arterial tortuosity syndrome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Alk	C	T	17: 72,209,687 (GRCm39)	W919*	probably null	Het
Aoc3	G	A	11: 101,222,925 (GRCm39)	G387D	probably damaging	Het
Arhgap26	T	A	18: 39,376,694 (GRCm39)	C441S	probably benign	Het
Arhgap28	C	A	17: 68,176,008 (GRCm39)	E100*	probably null	Het
Ate1	C	T	7: 130,110,748 (GRCm39)	G186D	probably benign	Het
Birc6	T	A	17: 74,919,026 (GRCm39)	L1948H	probably damaging	Het
Bmp2k	C	T	5: 97,234,623 (GRCm39)		probably benign	Het
Ccin	A	T	4: 43,985,077 (GRCm39)	I495F	probably benign	Het
Cir1	T	A	2: 73,140,848 (GRCm39)	E40D	probably benign	Het
Cyp3a57	A	T	5: 145,307,765 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 138,981,124 (GRCm39)	T113A	probably damaging	Het
Dnah2	G	A	11: 69,430,322 (GRCm39)	P79S	possibly damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Dync2i1	T	C	12: 116,219,645 (GRCm39)	D99G	probably damaging	Het
Enpep	A	T	3: 129,077,829 (GRCm39)	I596N	probably damaging	Het
Eps15	G	A	4: 109,227,875 (GRCm39)		probably null	Het
Ext1	T	C	15: 53,207,888 (GRCm39)	D291G	probably damaging	Het
Gm12883	T	C	4: 121,252,198 (GRCm39)		noncoding transcript	Het
Gm9921	A	G	12: 45,484,383 (GRCm39)		noncoding transcript	Het
H2-T22	C	A	17: 36,352,851 (GRCm39)	W85C	probably damaging	Het
Heatr1	G	A	13: 12,422,397 (GRCm39)		probably null	Het
Hspa4l	T	A	3: 40,739,832 (GRCm39)		probably null	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Kpna1	T	C	16: 35,853,696 (GRCm39)	V442A	probably damaging	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Musk	C	T	4: 58,344,222 (GRCm39)	T285I	probably damaging	Het
Myorg	G	A	4: 41,498,241 (GRCm39)	A463V	possibly damaging	Het
Nbea	T	G	3: 55,943,379 (GRCm39)	Q632P	probably damaging	Het
Ncoa3	T	C	2: 165,907,706 (GRCm39)	V1105A	probably benign	Het
Neb	T	C	2: 52,067,530 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,061,318 (GRCm39)	K970*	probably null	Het
Oog2	A	T	4: 143,917,302 (GRCm39)		probably benign	Het
Or13g1	T	C	7: 85,955,809 (GRCm39)	I171V	probably benign	Het
Or2a57	A	G	6: 43,213,318 (GRCm39)	M259V	probably benign	Het
Or52a24	A	G	7: 103,381,414 (GRCm39)	I94V	probably damaging	Het
Otos	T	C	1: 92,572,167 (GRCm39)	Y53C	probably damaging	Het
Oxct2a	A	T	4: 123,216,252 (GRCm39)	C376*	probably null	Het
Pate12	A	T	9: 36,344,156 (GRCm39)	K46N	probably benign	Het
Phf14	C	A	6: 11,987,619 (GRCm39)	Q633K	probably benign	Het
Pkdrej	T	A	15: 85,700,602 (GRCm39)	N1778I	probably damaging	Het
Psmc3	C	T	2: 90,885,974 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,274 (GRCm39)	I177F	probably damaging	Het
Rps6ka2	A	G	17: 7,539,003 (GRCm39)	D307G	probably benign	Het
Rps6ka2	G	A	17: 7,566,685 (GRCm39)	V648I	probably benign	Het
Scn11a	C	T	9: 119,587,725 (GRCm39)	V1340M	possibly damaging	Het
Sema7a	T	C	9: 57,863,663 (GRCm39)	W279R	probably damaging	Het
Stk4	C	A	2: 163,993,601 (GRCm39)	S77R	possibly damaging	Het
Stk4	T	A	2: 163,993,602 (GRCm39)	W78R	probably damaging	Het
Syf2	T	A	4: 134,662,283 (GRCm39)	L99*	probably null	Het
Tas2r104	A	T	6: 131,661,968 (GRCm39)	I247K	probably damaging	Het
Usp15	G	T	10: 122,967,303 (GRCm39)	R368S	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r2	T	A	3: 64,047,905 (GRCm39)	L20F	probably benign	Het
Zcchc4	A	T	5: 52,976,559 (GRCm39)	H451L	probably damaging	Het

Other mutations in Slc2a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Slc2a10	APN	2	165,356,700 (GRCm39)	missense	probably damaging	1.00
IGL01465:Slc2a10	APN	2	165,359,597 (GRCm39)	missense	possibly damaging	0.88
IGL02565:Slc2a10	APN	2	165,357,000 (GRCm39)	missense	probably damaging	0.99
IGL02902:Slc2a10	APN	2	165,360,142 (GRCm39)	missense	probably benign	0.08
PIT4362001:Slc2a10	UTSW	2	165,358,213 (GRCm39)	missense	probably damaging	1.00
R1453:Slc2a10	UTSW	2	165,359,570 (GRCm39)	missense	probably damaging	1.00
R1677:Slc2a10	UTSW	2	165,357,361 (GRCm39)	missense	probably benign	0.04
R1850:Slc2a10	UTSW	2	165,357,133 (GRCm39)	missense	probably benign	0.00
R1920:Slc2a10	UTSW	2	165,356,550 (GRCm39)	missense	probably damaging	1.00
R2269:Slc2a10	UTSW	2	165,356,701 (GRCm39)	nonsense	probably null
R3921:Slc2a10	UTSW	2	165,357,521 (GRCm39)	missense	probably benign	0.00
R4407:Slc2a10	UTSW	2	165,356,684 (GRCm39)	missense	probably damaging	1.00
R4575:Slc2a10	UTSW	2	165,358,241 (GRCm39)	missense	probably damaging	1.00
R4864:Slc2a10	UTSW	2	165,356,541 (GRCm39)	missense	probably benign	0.13
R4923:Slc2a10	UTSW	2	165,356,676 (GRCm39)	missense	possibly damaging	0.62
R4935:Slc2a10	UTSW	2	165,359,578 (GRCm39)	missense	probably benign	0.05
R5681:Slc2a10	UTSW	2	165,356,660 (GRCm39)	missense	probably benign	0.00
R5782:Slc2a10	UTSW	2	165,356,758 (GRCm39)	nonsense	probably null
R6116:Slc2a10	UTSW	2	165,359,623 (GRCm39)	missense	probably damaging	1.00
R6713:Slc2a10	UTSW	2	165,357,128 (GRCm39)	missense	probably damaging	1.00
R7179:Slc2a10	UTSW	2	165,357,269 (GRCm39)	missense	probably damaging	1.00
R7237:Slc2a10	UTSW	2	165,357,197 (GRCm39)	missense	probably benign
R7568:Slc2a10	UTSW	2	165,356,802 (GRCm39)	missense	probably damaging	0.98
R8323:Slc2a10	UTSW	2	165,356,671 (GRCm39)	missense	probably benign	0.05
R8407:Slc2a10	UTSW	2	165,356,787 (GRCm39)	missense	possibly damaging	0.82
R9147:Slc2a10	UTSW	2	165,357,543 (GRCm39)	missense	possibly damaging	0.48
R9148:Slc2a10	UTSW	2	165,357,543 (GRCm39)	missense	possibly damaging	0.48
R9632:Slc2a10	UTSW	2	165,358,176 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCACTCCAGCTGAACTTCG -3'
(R):5'- AGCCAAACATGTGCCTCCAG -3'

Sequencing Primer
(F):5'- AGCTGAACTTCGGGCTGAG -3'
(R):5'- ATGTGCCTCCAGCCCCAAG -3'

Posted On

2016-04-27