Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Slc2a12'

592384

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

045744-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22520910-22580184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22569893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 528 (D528G)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

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

AlphaFold

Q8BFW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042261
AA Change: D528G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: D528G

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

Meta Mutation Damage Score

0.1503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,123 (GRCm39)	I607F	probably damaging	Het
Abcc4	A	T	14: 118,848,899 (GRCm39)	D559E	probably damaging	Het
Abl1	T	C	2: 31,579,841 (GRCm39)	V8A	possibly damaging	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Asb3	T	A	11: 31,031,435 (GRCm39)	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,192,166 (GRCm39)	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581 (GRCm38)	E1258D	probably damaging	Het
Carmil2	A	T	8: 106,423,918 (GRCm39)	Q1257L	possibly damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,911,491 (GRCm39)	A781E	probably benign	Het
Ccr10	A	T	11: 101,065,475 (GRCm39)	D18E	probably benign	Het
Cdcp1	C	A	9: 123,045,071 (GRCm39)		probably benign	Het
Ces5a	C	A	8: 94,240,897 (GRCm39)	R400L	probably damaging	Het
Clcn6	C	T	4: 148,097,151 (GRCm39)	V636M	probably damaging	Het
Cluh	T	A	11: 74,558,546 (GRCm39)	L1206H	probably damaging	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dok4	T	C	8: 95,593,190 (GRCm39)	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Egr3	G	A	14: 70,315,526 (GRCm39)		probably null	Het
Elapor1	T	G	3: 108,370,307 (GRCm39)	R698S	probably damaging	Het
Elp1	T	C	4: 56,792,075 (GRCm39)	Q231R	probably damaging	Het
Evpl	T	C	11: 116,113,394 (GRCm39)	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,263,036 (GRCm39)	C214*	probably null	Het
Gm45861	A	C	8: 28,030,147 (GRCm39)	Y821S	unknown	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Kif14	C	T	1: 136,396,558 (GRCm39)	T288I	probably damaging	Het
Kpna3	A	T	14: 61,605,086 (GRCm39)	N520K	probably benign	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,542,921 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,438,751 (GRCm39)	M70L	probably benign	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nipbl	C	T	15: 8,322,585 (GRCm39)	V2609I	probably benign	Het
Nucks1	C	A	1: 131,858,844 (GRCm39)	T202N	probably benign	Het
Or10al3	A	G	17: 38,011,573 (GRCm39)	N4S	probably benign	Het
Or4c127	A	T	2: 89,833,389 (GRCm39)	Y213F	probably damaging	Het
Or4e2	A	G	14: 52,687,899 (GRCm39)	T10A	probably benign	Het
Or5m12	A	C	2: 85,734,880 (GRCm39)	F173V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,547,314 (GRCm39)	S257P	probably damaging	Het
Pnlip	G	C	19: 58,663,586 (GRCm39)	G187A	possibly damaging	Het
Pramel22	T	A	4: 143,382,175 (GRCm39)	K174*	probably null	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rho	G	T	6: 115,909,294 (GRCm39)	C110F	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Srp72	A	T	5: 77,122,673 (GRCm39)	N35Y	probably damaging	Het
Tm2d2	C	A	8: 25,508,280 (GRCm39)	Y141*	probably null	Het
Tor3a	G	A	1: 156,483,478 (GRCm39)	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r26	T	C	6: 124,016,321 (GRCm39)	W262R	probably benign	Het
Yipf7	A	T	5: 69,676,572 (GRCm39)	V189D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 123,110,295 (GRCm39)		probably null	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	probably damaging	Het

Other mutations in Slc2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Slc2a12	APN	10	22,540,583 (GRCm39)	missense	probably damaging	0.97
IGL02472:Slc2a12	APN	10	22,541,054 (GRCm39)	missense	probably damaging	1.00
IGL03387:Slc2a12	APN	10	22,541,134 (GRCm39)	missense	probably damaging	1.00
IGL03412:Slc2a12	APN	10	22,540,868 (GRCm39)	missense	probably damaging	1.00
R0537:Slc2a12	UTSW	10	22,540,967 (GRCm39)	missense	probably damaging	1.00
R0539:Slc2a12	UTSW	10	22,568,129 (GRCm39)	missense	probably benign	0.04
R0744:Slc2a12	UTSW	10	22,577,915 (GRCm39)	unclassified	probably benign
R0833:Slc2a12	UTSW	10	22,577,915 (GRCm39)	unclassified	probably benign
R1056:Slc2a12	UTSW	10	22,541,350 (GRCm39)	missense	probably benign	0.05
R1926:Slc2a12	UTSW	10	22,541,141 (GRCm39)	missense	probably damaging	1.00
R2188:Slc2a12	UTSW	10	22,540,736 (GRCm39)	missense	probably benign	0.01
R2471:Slc2a12	UTSW	10	22,540,706 (GRCm39)	missense	probably damaging	1.00
R4212:Slc2a12	UTSW	10	22,577,993 (GRCm39)	missense	probably benign	0.02
R4213:Slc2a12	UTSW	10	22,577,993 (GRCm39)	missense	probably benign	0.02
R4543:Slc2a12	UTSW	10	22,540,685 (GRCm39)	missense	probably damaging	1.00
R5203:Slc2a12	UTSW	10	22,568,117 (GRCm39)	missense	probably benign
R5203:Slc2a12	UTSW	10	22,521,213 (GRCm39)	critical splice donor site	probably null
R5223:Slc2a12	UTSW	10	22,577,931 (GRCm39)	missense	probably damaging	0.99
R5500:Slc2a12	UTSW	10	22,541,036 (GRCm39)	missense	probably damaging	1.00
R6119:Slc2a12	UTSW	10	22,541,246 (GRCm39)	missense	probably damaging	1.00
R6149:Slc2a12	UTSW	10	22,540,401 (GRCm39)	missense	probably benign	0.05
R6281:Slc2a12	UTSW	10	22,541,219 (GRCm39)	missense	probably damaging	1.00
R6330:Slc2a12	UTSW	10	22,540,894 (GRCm39)	missense	probably benign	0.00
R6385:Slc2a12	UTSW	10	22,569,929 (GRCm39)	missense	possibly damaging	0.69
R6623:Slc2a12	UTSW	10	22,540,799 (GRCm39)	missense	probably damaging	1.00
R6895:Slc2a12	UTSW	10	22,568,084 (GRCm39)	missense	probably damaging	1.00
R7080:Slc2a12	UTSW	10	22,541,216 (GRCm39)	missense	probably benign	0.34
R7152:Slc2a12	UTSW	10	22,541,453 (GRCm39)	missense	probably benign	0.00
R7592:Slc2a12	UTSW	10	22,540,802 (GRCm39)	missense	probably damaging	1.00
R7641:Slc2a12	UTSW	10	22,569,893 (GRCm39)	missense	probably damaging	0.98
R7736:Slc2a12	UTSW	10	22,540,717 (GRCm39)	missense	probably damaging	1.00
R7822:Slc2a12	UTSW	10	22,540,568 (GRCm39)	missense	probably damaging	1.00
R8519:Slc2a12	UTSW	10	22,540,678 (GRCm39)	missense	probably damaging	0.99
R8754:Slc2a12	UTSW	10	22,521,116 (GRCm39)	missense	probably benign	0.06
R8799:Slc2a12	UTSW	10	22,568,105 (GRCm39)	missense	possibly damaging	0.94
R9099:Slc2a12	UTSW	10	22,569,923 (GRCm39)	missense	possibly damaging	0.94
R9224:Slc2a12	UTSW	10	22,541,261 (GRCm39)	missense	possibly damaging	0.73
R9283:Slc2a12	UTSW	10	22,540,511 (GRCm39)	missense	probably damaging	0.99
R9294:Slc2a12	UTSW	10	22,540,994 (GRCm39)	missense	possibly damaging	0.79
R9576:Slc2a12	UTSW	10	22,578,004 (GRCm39)	missense	possibly damaging	0.62
Z1177:Slc2a12	UTSW	10	22,521,140 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AATGAACCTGGCCCTCTTC -3'
(R):5'- GGATCAGGTAGACAGTCTTACAGC -3'

Sequencing Primer
(F):5'- CTGAATTTGTAAATCTCACTTCCGTG -3'
(R):5'- GACAGTCTTACAGCAAAGGAAATATC -3'

Posted On

2019-11-12