Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Slc2a12'

402442

Institutional Source

Beutler Lab

Gene Symbol

Slc2a12

Ensembl Gene

ENSMUSG00000037490

Gene Name

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

Synonyms

Glut12, GLUT-12

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22645011-22704285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22702032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 576 (K576E)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042261] [ENSMUST00000095794] [ENSMUST00000127698]

AlphaFold

Q8BFW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042261
AA Change: K576E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: K576E

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

probably benign
Transcript: ENSMUST00000095794

SMART Domains

Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359

Domain	Start	End	E-Value	Type
Pfam:TBP	8	92	8.3e-24	PFAM
Pfam:TBP	97	182	4.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127698

SMART Domains

Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359

Domain	Start	End	E-Value	Type
Pfam:TBP	10	91	2.4e-25	PFAM
Pfam:TBP	99	181	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141569

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Slc2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Slc2a12	APN	10	22664684	missense	probably damaging	0.97
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
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
R8519:Slc2a12	UTSW	10	22664779	missense	probably damaging	0.99
R8754:Slc2a12	UTSW	10	22645217	missense	probably benign	0.06
R8799:Slc2a12	UTSW	10	22692206	missense	possibly damaging	0.94
R9099:Slc2a12	UTSW	10	22694024	missense	possibly damaging	0.94
R9224:Slc2a12	UTSW	10	22665362	missense	possibly damaging	0.73
R9283:Slc2a12	UTSW	10	22664612	missense	probably damaging	0.99
R9294:Slc2a12	UTSW	10	22665095	missense	possibly damaging	0.79
R9576:Slc2a12	UTSW	10	22702105	missense	possibly damaging	0.62
Z1177:Slc2a12	UTSW	10	22645241	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCCAGTTTACTCTCTGCATGAG -3'
(R):5'- CTGTAAGTCCTGCCACTGTG -3'

Sequencing Primer
(F):5'- GGCCAAAGGTATGTATCACAGTTCTC -3'
(R):5'- ACTGTGCCACACGTAGGGATTG -3'

Posted On

2016-07-22