Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Slc2a10'

725554

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

Accession Numbers

Essential gene?

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

Stock #

R9632 (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 C at 165358176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 434 (I434L)

Ref Sequence

ENSEMBL: ENSMUSP00000029196 (fasta)

Gene Model

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

AlphaFold

Q8VHD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029196
AA Change: I434L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: I434L

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: 99.7%
20x: 99.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,389,072 (GRCm39)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,589,090 (GRCm39)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
Bin2	T	C	15: 100,549,915 (GRCm39)	D176G	possibly damaging	Het
Bptf	T	A	11: 106,952,545 (GRCm39)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
CN725425	A	T	15: 91,126,851 (GRCm39)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Ctsj	C	T	13: 61,151,828 (GRCm39)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,060,955 (GRCm39)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,681,344 (GRCm39)	I41F	probably damaging	Het
Drd3	A	G	16: 43,643,135 (GRCm39)	N425S	probably damaging	Het
Eci1	G	C	17: 24,645,859 (GRCm39)	G25R	probably damaging	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 27,841,726 (GRCm39)	I554V	probably benign	Het
Fndc1	T	C	17: 7,991,622 (GRCm39)	I691M	unknown	Het
Fut8	A	G	12: 77,440,507 (GRCm39)	T165A	probably benign	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm11595	A	T	11: 99,663,097 (GRCm39)	C194*	probably null	Het
Gm14403	T	A	2: 177,201,421 (GRCm39)	N213K	probably benign	Het
Gmpr	T	C	13: 45,699,519 (GRCm39)	V343A	probably benign	Het
Hacd1	T	C	2: 14,040,678 (GRCm39)	N152D	possibly damaging	Het
Hcn1	A	G	13: 118,010,522 (GRCm39)	S367G	probably benign	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,553,960 (GRCm39)	V946E	probably benign	Het
Krt71	T	C	15: 101,644,988 (GRCm39)	E441G	probably damaging	Het
Lhcgr	A	G	17: 89,049,532 (GRCm39)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,433,252 (GRCm39)	S3306C	unknown	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm39)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mmp15	A	G	8: 96,098,731 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,469 (GRCm39)	D67G	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,056,102 (GRCm39)	S67P	probably damaging	Het
Nrg1	T	C	8: 32,407,621 (GRCm39)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,714,594 (GRCm39)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,628,901 (GRCm39)	P655H	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,193,065 (GRCm39)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,423,057 (GRCm39)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,001,752 (GRCm39)		probably benign	Het
Or56a5	T	A	7: 104,793,165 (GRCm39)	T112S	probably benign	Het
Otog	A	T	7: 45,915,143 (GRCm39)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,556,019 (GRCm39)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,284,835 (GRCm39)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,486,109 (GRCm39)	R459S	probably benign	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Phf2	T	A	13: 48,971,292 (GRCm39)	D460V	unknown	Het
Polr1f	G	A	12: 33,479,723 (GRCm39)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,819,731 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,299,848 (GRCm39)	R604G		Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,292 (GRCm39)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,391,582 (GRCm39)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,134,139 (GRCm39)	T68A	probably benign	Het
Rrad	A	G	8: 105,356,320 (GRCm39)	M160T	probably benign	Het
Rtn1	A	G	12: 72,350,961 (GRCm39)	V416A	probably damaging	Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,615,969 (GRCm39)	V631E	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Serpinb6b	A	T	13: 33,155,532 (GRCm39)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,104,238 (GRCm39)	R129L	probably damaging	Het
Slc30a6	G	T	17: 74,730,059 (GRCm39)	M316I	probably benign	Het
Slx4	A	T	16: 3,803,969 (GRCm39)	H948Q	probably benign	Het
Sncaip	A	G	18: 53,039,726 (GRCm39)	E640G	probably damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,442,648 (GRCm39)	I60T	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,689 (GRCm39)	M447K	possibly damaging	Het
Stam	A	T	2: 14,122,204 (GRCm39)	H101L	probably damaging	Het
Suz12	C	T	11: 79,915,748 (GRCm39)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 126,807,036 (GRCm39)	V167A	probably benign	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,209,097 (GRCm39)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Ttc6	A	G	12: 57,664,299 (GRCm39)	M351V	probably benign	Het
Ttn	G	A	2: 76,714,897 (GRCm39)	R8026*	probably null	Het
Ttn	A	T	2: 76,750,210 (GRCm39)	V3613E	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Zfp820	T	C	17: 22,038,107 (GRCm39)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,701,787 (GRCm39)	A315T	unknown	Het
Zmiz1	C	A	14: 25,663,411 (GRCm39)	D1053E	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ATCGAATGTCTTGTGTCCCAGG -3'
(R):5'- TGACCTAGTGAATTTGGGAGC -3'

Sequencing Primer
(F):5'- AATGTCTTGTGTCCCAGGAACCTG -3'
(R):5'- CTTTAGCTCTGGAGAGAACTGTCC -3'

Posted On

2022-09-12