Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Slc2a10'

585572

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

045630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165345817-165361837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165356802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 154 (N154S)

Ref Sequence

ENSEMBL: ENSMUSP00000029196 (fasta)

Gene Model

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

AlphaFold

Q8VHD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029196
AA Change: N154S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: N154S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,391,956 (GRCm39)	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498 (GRCm39)	T342S	probably damaging	Het
Alcam	A	G	16: 52,088,749 (GRCm39)	S554P	probably damaging	Het
Ano3	T	C	2: 110,780,638 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,060,390 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,139 (GRCm39)	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,795,484 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,795,463 (GRCm39)		probably benign	Het
Best1	T	A	19: 9,966,639 (GRCm39)		probably null	Het
Catip	G	T	1: 74,408,089 (GRCm39)	E474*	probably null	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crebbp	G	A	16: 3,944,353 (GRCm39)	R600W	probably benign	Het
Cyfip1	A	G	7: 55,521,997 (GRCm39)		probably null	Het
Ddr1	A	G	17: 35,995,174 (GRCm39)	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,926,898 (GRCm39)		probably null	Het
F2rl1	G	A	13: 95,650,522 (GRCm39)	A120V	probably damaging	Het
Fam136a	A	G	6: 86,342,784 (GRCm39)	N24D	probably benign	Het
Fbxw10	C	A	11: 62,765,994 (GRCm39)	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,268,657 (GRCm39)	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,807,119 (GRCm39)	K373E	probably benign	Het
Herc3	G	A	6: 58,820,795 (GRCm39)	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,713,477 (GRCm39)	K51*	probably null	Het
Krt23	T	A	11: 99,383,626 (GRCm39)	K89*	probably null	Het
Mavs	A	G	2: 131,087,395 (GRCm39)	T298A	probably benign	Het
Mlec	T	C	5: 115,288,181 (GRCm39)	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,386,689 (GRCm39)	N689K	probably benign	Het
Nfkbia	A	G	12: 55,538,546 (GRCm39)	I82T	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,496 (GRCm39)	I163V	probably benign	Het
Or12j2	A	G	7: 139,915,895 (GRCm39)	N40S	probably damaging	Het
Or7a35	A	T	10: 78,853,341 (GRCm39)	I62F	probably benign	Het
Or8b43	A	G	9: 38,360,942 (GRCm39)	Y258C	probably damaging	Het
Pom121l2	A	T	13: 22,166,796 (GRCm39)	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,168,096 (GRCm39)	L719Q	probably damaging	Het
Satb1	A	T	17: 52,089,752 (GRCm39)	V365D	possibly damaging	Het
Scrn2	T	C	11: 96,921,712 (GRCm39)	Y61H	probably damaging	Het
Siglec1	C	T	2: 130,914,602 (GRCm39)	V1505M	probably damaging	Het
Slc39a10	A	T	1: 46,874,290 (GRCm39)	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,404,939 (GRCm39)		probably null	Het
Slc6a6	T	G	6: 91,701,832 (GRCm39)	L80R	probably damaging	Het
Slit1	T	C	19: 41,590,074 (GRCm39)	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,059,121 (GRCm39)	E419G	probably damaging	Het
Ssh1	T	C	5: 114,095,441 (GRCm39)		probably null	Het
Stab1	C	A	14: 30,874,552 (GRCm39)	C952F	probably damaging	Het
Stat5a	T	C	11: 100,765,850 (GRCm39)	M312T	possibly damaging	Het
Tex2	A	G	11: 106,439,562 (GRCm39)	I606T	unknown	Het
Tex55	T	C	16: 38,648,809 (GRCm39)	E100G	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,813 (GRCm39)	H122R	possibly damaging	Het
Zfp959	A	G	17: 56,204,886 (GRCm39)	I308V	probably benign	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
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
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'- AGCCATCCTAGGGAGCAATG -3'
(R):5'- AAAGCTGTACTGTGGCTTCAC -3'

Sequencing Primer
(F):5'- ATTCTGGGTCTGGCCAGCTC -3'
(R):5'- TTCACCAGGCCCGGTTTG -3'

Posted On

2019-10-17