Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Slc2a10'

363624

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: 0.090) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

165345817-165361837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 165360142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 531 (D531N)

Ref Sequence

ENSEMBL: ENSMUSP00000029196 (fasta)

Gene Model

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

AlphaFold

Q8VHD6

Predicted Effect

probably benign
Transcript: ENSMUST00000029196
AA Change: D531N

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

SMART Domains

Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: D531N

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	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
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

2015-12-18