Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Slc2a7'

24840

Institutional Source

Beutler Lab

Gene Symbol

Slc2a7

Ensembl Gene

ENSMUSG00000062064

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 7

Synonyms

OTTMUSG00000010396

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150233429-150252939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150233978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 31 (A31V)

Ref Sequence

ENSEMBL: ENSMUSP00000059106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059893]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059893
AA Change: A31V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: A31V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	319	2e-15	PFAM
Pfam:Sugar_tr	26	494	7.6e-120	PFAM

Meta Mutation Damage Score

0.5700

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	T	C	4: 126,211,185 (GRCm39)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cr1l	G	A	1: 194,800,101 (GRCm39)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,598,552 (GRCm39)	R396L	probably benign	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pbx3	A	T	2: 34,114,572 (GRCm39)	S46T	probably benign	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,353,438 (GRCm39)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		probably benign	Het

Other mutations in Slc2a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Slc2a7	APN	4	150,242,021 (GRCm39)	missense	probably damaging	1.00
IGL01990:Slc2a7	APN	4	150,239,141 (GRCm39)	missense	possibly damaging	0.89
IGL02480:Slc2a7	APN	4	150,244,569 (GRCm39)	missense	possibly damaging	0.93
IGL02607:Slc2a7	APN	4	150,239,162 (GRCm39)	missense	probably benign
IGL02716:Slc2a7	APN	4	150,244,467 (GRCm39)	splice site	probably benign
IGL02861:Slc2a7	APN	4	150,252,836 (GRCm39)	missense	probably benign	0.16
IGL03343:Slc2a7	APN	4	150,252,797 (GRCm39)	missense	probably damaging	1.00
anhedonic	UTSW	4	150,243,015 (GRCm39)	nonsense	probably null
Anorectic	UTSW	4	150,242,667 (GRCm39)	splice site	probably null
paunch	UTSW	4	150,242,605 (GRCm39)	missense	probably damaging	1.00
tablemuscle	UTSW	4	150,252,797 (GRCm39)	missense	probably damaging	1.00
R0116:Slc2a7	UTSW	4	150,252,721 (GRCm39)	missense	probably benign	0.31
R0309:Slc2a7	UTSW	4	150,242,528 (GRCm39)	splice site	probably benign
R0367:Slc2a7	UTSW	4	150,250,823 (GRCm39)	missense	probably benign	0.03
R1485:Slc2a7	UTSW	4	150,250,853 (GRCm39)	missense	probably damaging	1.00
R1542:Slc2a7	UTSW	4	150,252,928 (GRCm39)	missense	probably damaging	1.00
R1544:Slc2a7	UTSW	4	150,239,143 (GRCm39)	missense	probably damaging	1.00
R3973:Slc2a7	UTSW	4	150,242,667 (GRCm39)	splice site	probably null
R4399:Slc2a7	UTSW	4	150,243,007 (GRCm39)	missense	probably damaging	1.00
R4467:Slc2a7	UTSW	4	150,247,731 (GRCm39)	missense	possibly damaging	0.95
R4712:Slc2a7	UTSW	4	150,252,926 (GRCm39)	missense	probably benign	0.00
R5066:Slc2a7	UTSW	4	150,244,573 (GRCm39)	missense	probably damaging	1.00
R5510:Slc2a7	UTSW	4	150,244,551 (GRCm39)	missense	probably benign	0.00
R5995:Slc2a7	UTSW	4	150,252,797 (GRCm39)	missense	probably damaging	1.00
R6017:Slc2a7	UTSW	4	150,249,629 (GRCm39)	missense	probably damaging	0.99
R6062:Slc2a7	UTSW	4	150,252,884 (GRCm39)	missense	probably benign
R6185:Slc2a7	UTSW	4	150,233,450 (GRCm39)	missense	probably benign	0.00
R6730:Slc2a7	UTSW	4	150,242,605 (GRCm39)	missense	probably damaging	1.00
R7753:Slc2a7	UTSW	4	150,239,141 (GRCm39)	missense	possibly damaging	0.89
R8145:Slc2a7	UTSW	4	150,252,818 (GRCm39)	missense	probably damaging	1.00
R8203:Slc2a7	UTSW	4	150,243,015 (GRCm39)	nonsense	probably null
R8512:Slc2a7	UTSW	4	150,247,752 (GRCm39)	missense	probably benign	0.23
R9066:Slc2a7	UTSW	4	150,250,872 (GRCm39)	missense	probably damaging	1.00
R9074:Slc2a7	UTSW	4	150,242,625 (GRCm39)	missense	probably benign	0.44
R9129:Slc2a7	UTSW	4	150,243,001 (GRCm39)	missense	probably benign	0.31
R9773:Slc2a7	UTSW	4	150,234,044 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGCTGAAAACCTCTGTACGCAGATG -3'
(R):5'- AATGGCTCTAGATGCCCCTAGTCC -3'

Sequencing Primer
(F):5'- GGCCCTGGAATCAATCTATCGAG -3'
(R):5'- AGACAGCAGCTGACTTCTAC -3'

Posted On

2013-04-16