Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Slc2a7'

502091

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

044325-MU

Accession Numbers

Essential gene?

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

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150233429-150252939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150233450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 8 (T8A)

Ref Sequence

ENSEMBL: ENSMUSP00000059106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030826] [ENSMUST00000059893]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030826

SMART Domains

Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	397	1e-19	PFAM
Pfam:Sugar_tr	19	474	2.1e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059893
AA Change: T8A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: T8A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm39)	H894Q	probably benign	Het
Abca4	A	T	3: 121,919,789 (GRCm39)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,651,252 (GRCm39)	I123L	probably benign	Het
Angptl2	T	C	2: 33,119,026 (GRCm39)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,565,594 (GRCm39)	K91T	probably damaging	Het
Bend7	A	T	2: 4,793,333 (GRCm39)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,808,212 (GRCm39)		probably null	Het
Cachd1	C	A	4: 100,838,228 (GRCm39)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,814,713 (GRCm39)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,735,455 (GRCm39)	M448L	probably benign	Het
Chd9	A	G	8: 91,775,765 (GRCm39)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,141,825 (GRCm39)	V54M	probably benign	Het
Cln8	A	G	8: 14,946,544 (GRCm39)	D186G	probably benign	Het
Crxos	C	T	7: 15,636,805 (GRCm39)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 119,880,444 (GRCm39)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,580,005 (GRCm39)	R322G	probably damaging	Het
Dpf1	A	G	7: 29,010,696 (GRCm39)	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,532,543 (GRCm39)	V529G	probably benign	Het
Dst	G	A	1: 34,212,161 (GRCm39)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,483,743 (GRCm39)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,513,114 (GRCm39)	H370N	probably benign	Het
Fam186a	A	G	15: 99,845,530 (GRCm39)	I238T	unknown	Het
Fbxl5	T	A	5: 43,978,894 (GRCm39)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fryl	A	G	5: 73,270,131 (GRCm39)	V367A	probably benign	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,749,003 (GRCm39)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,798,149 (GRCm39)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,541,160 (GRCm39)	C753S	probably damaging	Het
Igf2	T	A	7: 142,212,118 (GRCm39)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,385,099 (GRCm39)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,636,068 (GRCm39)		probably benign	Het
Lnx1	A	T	5: 74,846,269 (GRCm39)	C60*	probably null	Het
Lrpprc	T	C	17: 85,074,452 (GRCm39)	D485G	probably benign	Het
Ly6i	A	T	15: 74,851,879 (GRCm39)	S97T	possibly damaging	Het
Me2	G	A	18: 73,924,199 (GRCm39)	Q338*	probably null	Het
Med16	A	T	10: 79,732,197 (GRCm39)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,565,769 (GRCm39)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,596 (GRCm39)	F273C	probably damaging	Het
Neil3	T	A	8: 54,052,182 (GRCm39)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,344,564 (GRCm39)	S57C	probably damaging	Het
Nup188	A	T	2: 30,231,722 (GRCm39)	T1439S	probably damaging	Het
Or10g3	T	C	14: 52,610,019 (GRCm39)	T164A	possibly damaging	Het
Or10g7	T	C	9: 39,905,420 (GRCm39)	F105L	probably benign	Het
Or5w10	A	G	2: 87,375,087 (GRCm39)	M267T	possibly damaging	Het
Otud7a	T	A	7: 63,408,133 (GRCm39)	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,786,952 (GRCm39)	A95T	probably benign	Het
Pax4	C	T	6: 28,446,347 (GRCm39)	V49I	probably damaging	Het
Plek	C	T	11: 16,931,829 (GRCm39)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,723,595 (GRCm39)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,079,598 (GRCm39)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm39)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Sbf1	A	G	15: 89,189,814 (GRCm39)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,025,244 (GRCm39)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,531,723 (GRCm39)	I62N	possibly damaging	Het
Selp	A	G	1: 163,953,915 (GRCm39)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,471,802 (GRCm39)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 126,194,992 (GRCm39)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,903,953 (GRCm39)	D61E	probably benign	Het
Slc5a2	T	C	7: 127,870,349 (GRCm39)	I529T	probably damaging	Het
Spart	A	C	3: 55,024,640 (GRCm39)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,850,242 (GRCm39)	I756T	probably benign	Het
Stc1	G	A	14: 69,275,813 (GRCm39)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,527,749 (GRCm39)	T166A	probably benign	Het
Syt6	A	T	3: 103,492,844 (GRCm39)	D32V	probably damaging	Het
Tanc1	T	A	2: 59,621,929 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,803,865 (GRCm39)	N297K	probably damaging	Het
Telo2	A	G	17: 25,321,014 (GRCm39)	S734P	probably benign	Het
Tfrc	T	A	16: 32,437,090 (GRCm39)	Y250N	probably benign	Het
Tmem97	C	T	11: 78,434,388 (GRCm39)	W65*	probably null	Het
Ubr3	T	C	2: 69,768,621 (GRCm39)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,204,849 (GRCm39)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,490,631 (GRCm39)	M99L	probably benign	Het
Uvrag	A	C	7: 98,790,039 (GRCm39)		probably null	Het
Vmn2r63	A	G	7: 42,578,435 (GRCm39)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,953,644 (GRCm39)	T603S	probably damaging	Het
Vps8	C	A	16: 21,288,891 (GRCm39)	L417I	probably damaging	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
R0302:Slc2a7	UTSW	4	150,233,978 (GRCm39)	missense	probably damaging	0.99
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
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'- CTCGTGCAGAAAGCCATCAAG -3'
(R):5'- GGTTGTATCTGGTGTCCCCAAG -3'

Sequencing Primer
(F):5'- CATCAAGGTCCAGAGGGC -3'
(R):5'- ATGCTTAAGTCTGAGCCACG -3'

Posted On

2018-02-27