Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Slc2a10'

298780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc2a10

Ensembl Gene

ENSMUSG00000027661

Gene Name

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

Synonyms

Glut10

Accession Numbers

Essential gene?

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

Stock #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

165345817-165361837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 165357000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 220 (D220A)

Ref Sequence

ENSEMBL: ENSMUSP00000029196 (fasta)

Gene Model

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

AlphaFold

Q8VHD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029196
AA Change: D220A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: D220A

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,343 (GRCm39)	C122*	probably null	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Ift70b	A	G	2: 75,768,247 (GRCm39)	Y169H	probably benign	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Jph2	T	C	2: 163,239,265 (GRCm39)	E61G	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Poldip2	T	C	11: 78,408,678 (GRCm39)	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly 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
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
R4954:Slc2a10	UTSW	2	165,356,675 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16