Mutagenetix > Incidental Mutation

Incidental Mutation 'R1485:Slc2a7'

163385

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

039538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150233429-150252939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150250853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 425 (S425P)

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: S425P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: S425P

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

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
Adgrv1	A	G	13: 81,727,738 (GRCm39)	S301P	probably damaging	Het
AI987944	C	A	7: 41,023,954 (GRCm39)	G342*	probably null	Het
Alox5	A	T	6: 116,401,125 (GRCm39)	F212I	probably damaging	Het
Apaf1	A	T	10: 90,896,105 (GRCm39)	D322E	probably benign	Het
Aste1	T	A	9: 105,275,009 (GRCm39)	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,588,063 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,176,406 (GRCm39)	Y1836C	probably damaging	Het
Castor2	T	A	5: 134,165,972 (GRCm39)	L240Q	probably damaging	Het
Ccdc77	G	A	6: 120,315,101 (GRCm39)	Q183*	probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Coch	G	T	12: 51,645,072 (GRCm39)	V209F	probably damaging	Het
Cops3	G	A	11: 59,718,715 (GRCm39)	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,387 (GRCm39)		probably null	Het
D6Ertd527e	A	T	6: 87,088,067 (GRCm39)	S77C	unknown	Het
Defb7	A	G	8: 19,545,110 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,590,603 (GRCm39)		probably null	Het
Entpd6	T	A	2: 150,610,843 (GRCm39)		probably null	Het
Evc2	C	T	5: 37,527,900 (GRCm39)	A303V	probably benign	Het
Fhod1	T	C	8: 106,063,430 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,712,676 (GRCm39)	F54I	probably benign	Het
Gm7104	C	A	12: 88,252,333 (GRCm39)		noncoding transcript	Het
Grid1	A	T	14: 34,544,540 (GRCm39)	D37V	probably damaging	Het
Icam5	G	A	9: 20,947,702 (GRCm39)	A560T	probably benign	Het
Igf2r	A	C	17: 12,910,172 (GRCm39)	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,153,929 (GRCm39)	V65A	probably benign	Het
Kif3b	T	C	2: 153,164,851 (GRCm39)		probably null	Het
Kmt2a	T	G	9: 44,738,225 (GRCm39)		probably benign	Het
Marchf6	T	A	15: 31,498,839 (GRCm39)	T153S	probably damaging	Het
Mcam	T	A	9: 44,048,060 (GRCm39)	I72N	probably damaging	Het
Ncoa4-ps	A	G	12: 119,224,785 (GRCm39)		noncoding transcript	Het
Nkain3	T	C	4: 20,484,932 (GRCm39)	I48M	probably damaging	Het
Nop58	T	A	1: 59,737,504 (GRCm39)	I107N	probably damaging	Het
Notch2	A	G	3: 98,007,573 (GRCm39)	H441R	probably benign	Het
Nr1d1	G	A	11: 98,661,187 (GRCm39)	R360C	probably benign	Het
Or56a5	A	G	7: 104,792,888 (GRCm39)	I210T	probably benign	Het
Pclo	T	C	5: 14,763,793 (GRCm39)	S4089P	unknown	Het
Pi4kb	A	G	3: 94,901,698 (GRCm39)	E455G	probably damaging	Het
Piezo1	T	C	8: 123,208,788 (GRCm39)	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,016,908 (GRCm39)	V283A	possibly damaging	Het
Pramel12	G	A	4: 143,144,188 (GRCm39)	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Rasa2	A	G	9: 96,426,401 (GRCm39)	I815T	probably benign	Het
Rev1	A	T	1: 38,127,653 (GRCm39)	D202E	probably benign	Het
Septin14	C	T	5: 129,770,118 (GRCm39)	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,876,370 (GRCm39)	S112G	probably benign	Het
Siah3	T	A	14: 75,762,994 (GRCm39)	Y82N	probably benign	Het
Slc9a2	C	T	1: 40,765,548 (GRCm39)	L313F	probably damaging	Het
Smdt1	T	C	15: 82,230,433 (GRCm39)	V50A	probably benign	Het
Spata31e2	T	G	1: 26,724,961 (GRCm39)	K73T	possibly damaging	Het
Supt3	G	A	17: 45,347,607 (GRCm39)	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492 (GRCm39)	I742T	possibly damaging	Het
Tex44	T	A	1: 86,355,640 (GRCm39)	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,420,917 (GRCm39)	D171E	probably damaging	Het
Trim31	A	C	17: 37,209,568 (GRCm39)	D108A	probably damaging	Het
Ubr1	T	C	2: 120,791,579 (GRCm39)	N135S	probably benign	Het
Uso1	G	A	5: 92,328,422 (GRCm39)	V340I	possibly damaging	Het
Utp6	A	C	11: 79,839,749 (GRCm39)	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,109 (GRCm39)	V554A	possibly damaging	Het
Xdh	C	A	17: 74,221,014 (GRCm39)	E572*	probably null	Het
Zbtb7c	T	C	18: 76,270,061 (GRCm39)	S50P	probably damaging	Het
Zfp672	A	G	11: 58,220,395 (GRCm39)		probably benign	Het
Zzef1	A	G	11: 72,791,635 (GRCm39)		probably null	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
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

Posted On

2014-03-28