Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01392:Slc2a12'

79245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc2a12

Ensembl Gene

ENSMUSG00000037490

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 12

Synonyms

Glut12, GLUT-12

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01392

Quality Score

Status

Chromosome

Chromosomal Location

22645011-22704285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22664684 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 146 (V146A)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042261]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042261
AA Change: V146A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: V146A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	42	390	5.3e-27	PFAM
Pfam:Sugar_tr	47	381	9.1e-76	PFAM
Pfam:Sugar_tr	451	569	4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159174

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,500,546	V2A	probably benign	Het
Adgrf5	A	T	17: 43,450,012	Q866L	probably benign	Het
Ankrd13a	A	G	5: 114,797,853	E295G	probably benign	Het
Arid1a	T	C	4: 133,681,037	D2053G	unknown	Het
Calr4	A	G	4: 109,253,874	E272G	probably benign	Het
Cmya5	T	C	13: 93,089,206	S3125G	probably damaging	Het
Dnah7b	T	C	1: 46,126,788	Y538H	probably damaging	Het
Eri3	T	C	4: 117,589,159		probably null	Het
Fmo6	T	A	1: 162,930,011	R63*	probably null	Het
Gm7168	G	A	17: 13,948,907	D179N	probably benign	Het
Gm8979	T	C	7: 106,083,755	I98V	probably benign	Het
Got1l1	T	C	8: 27,197,991	T337A	probably damaging	Het
Igf2r	A	G	17: 12,704,349	M1191T	probably benign	Het
Ighv1-54	A	G	12: 115,193,937	L30P	probably damaging	Het
Igkv8-30	A	G	6: 70,117,347	S27P	probably benign	Het
Kcnab2	A	T	4: 152,393,797	V335E	possibly damaging	Het
Klf12	A	T	14: 100,149,757	I3N	probably damaging	Het
Megf8	T	C	7: 25,363,749	V2510A	probably benign	Het
Mme	A	G	3: 63,362,046	D592G	probably damaging	Het
Myh1	A	G	11: 67,221,301	N1727S	probably benign	Het
Ncor1	A	G	11: 62,340,594	S796P	probably damaging	Het
Nlrp14	A	G	7: 107,197,913		probably benign	Het
Olfr1443	T	A	19: 12,680,803	Y232N	probably benign	Het
Olfr508	C	T	7: 108,630,678	R229C	probably benign	Het
Olfr564	T	A	7: 102,803,854	Y125*	probably null	Het
Plekhm2	A	G	4: 141,642,426	V86A	probably damaging	Het
Popdc2	G	T	16: 38,374,131	V305L	probably benign	Het
Prpmp5	T	C	6: 132,312,420	N147S	unknown	Het
Rttn	C	T	18: 88,995,613	H469Y	probably benign	Het
Sptlc3	A	G	2: 139,546,421	E111G	possibly damaging	Het
Zfp108	T	C	7: 24,258,447		probably benign	Het
Zfp719	T	A	7: 43,591,130	F714Y	probably damaging	Het

Other mutations in Slc2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02472:Slc2a12	APN	10	22665155	missense	probably damaging	1.00
IGL03387:Slc2a12	APN	10	22665235	missense	probably damaging	1.00
IGL03412:Slc2a12	APN	10	22664969	missense	probably damaging	1.00
R0537:Slc2a12	UTSW	10	22665068	missense	probably damaging	1.00
R0539:Slc2a12	UTSW	10	22692230	missense	probably benign	0.04
R0744:Slc2a12	UTSW	10	22702016	unclassified	probably benign
R0833:Slc2a12	UTSW	10	22702016	unclassified	probably benign
R1056:Slc2a12	UTSW	10	22665451	missense	probably benign	0.05
R1926:Slc2a12	UTSW	10	22665242	missense	probably damaging	1.00
R2188:Slc2a12	UTSW	10	22664837	missense	probably benign	0.01
R2471:Slc2a12	UTSW	10	22664807	missense	probably damaging	1.00
R4212:Slc2a12	UTSW	10	22702094	missense	probably benign	0.02
R4213:Slc2a12	UTSW	10	22702094	missense	probably benign	0.02
R4543:Slc2a12	UTSW	10	22664786	missense	probably damaging	1.00
R5203:Slc2a12	UTSW	10	22645314	critical splice donor site	probably null
R5203:Slc2a12	UTSW	10	22692218	missense	probably benign
R5223:Slc2a12	UTSW	10	22702032	missense	probably damaging	0.99
R5500:Slc2a12	UTSW	10	22665137	missense	probably damaging	1.00
R6119:Slc2a12	UTSW	10	22665347	missense	probably damaging	1.00
R6149:Slc2a12	UTSW	10	22664502	missense	probably benign	0.05
R6281:Slc2a12	UTSW	10	22665320	missense	probably damaging	1.00
R6330:Slc2a12	UTSW	10	22664995	missense	probably benign	0.00
R6385:Slc2a12	UTSW	10	22694030	missense	possibly damaging	0.69
R6623:Slc2a12	UTSW	10	22664900	missense	probably damaging	1.00
R6895:Slc2a12	UTSW	10	22692185	missense	probably damaging	1.00
R7080:Slc2a12	UTSW	10	22665317	missense	probably benign	0.34
R7152:Slc2a12	UTSW	10	22665554	missense	probably benign	0.00
R7592:Slc2a12	UTSW	10	22664903	missense	probably damaging	1.00
R7641:Slc2a12	UTSW	10	22693994	missense	probably damaging	0.98
R7674:Slc2a12	UTSW	10	22693994	missense	probably damaging	0.98
R7736:Slc2a12	UTSW	10	22664818	missense	probably damaging	1.00
R7822:Slc2a12	UTSW	10	22664669	missense	probably damaging	1.00

Posted On

2013-11-05