Mutagenetix > Incidental Mutation

Incidental Mutation 'R8754:Slc2a12'

664048

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

068620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22520910-22580184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22521116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 7 (T7S)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

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

AlphaFold

Q8BFW9

Predicted Effect

probably benign
Transcript: ENSMUST00000042261
AA Change: T7S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: T7S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

100% (67/67)

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
1110002E22Rik	T	C	3: 137,771,798 (GRCm39)	V329A	probably benign	Het
A830018L16Rik	G	T	1: 11,615,472 (GRCm39)	K148N	probably benign	Het
Actn3	A	G	19: 4,913,488 (GRCm39)	F648L	probably damaging	Het
Amotl2	A	G	9: 102,597,358 (GRCm39)	D39G	possibly damaging	Het
Anks1	C	A	17: 28,214,984 (GRCm39)	T477K	possibly damaging	Het
Brix1	A	T	15: 10,476,664 (GRCm39)	S271T	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Chrna6	T	C	8: 27,897,229 (GRCm39)	H216R	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Copa	C	T	1: 171,935,926 (GRCm39)	R423W	probably damaging	Het
Cttnbp2	A	C	6: 18,434,037 (GRCm39)	I607R	possibly damaging	Het
Depdc5	A	T	5: 33,136,881 (GRCm39)	T1384S	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dusp26	C	T	8: 31,581,805 (GRCm39)		probably benign	Het
Eif1ad13	T	A	12: 87,762,569 (GRCm39)	N96K	possibly damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fuca1	T	C	4: 135,652,889 (GRCm39)	L171P	probably damaging	Het
Gpr158	G	A	2: 21,581,693 (GRCm39)	V391I	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,428,175 (GRCm39)	Y771N	probably damaging	Het
Il17ra	A	G	6: 120,458,417 (GRCm39)	T523A	probably benign	Het
Kcnv1	G	A	15: 44,977,865 (GRCm39)	Q58*	probably null	Het
Kdm5d	T	C	Y: 941,594 (GRCm39)	V1265A	probably damaging	Het
Kifc3	A	T	8: 95,829,024 (GRCm39)	L726Q	probably damaging	Het
Klk1b21	T	A	7: 43,755,912 (GRCm39)	I247N	probably benign	Het
Kntc1	T	A	5: 123,897,115 (GRCm39)	N159K	probably benign	Het
Krtap4-7	G	T	11: 99,534,667 (GRCm39)	C65*	probably null	Het
Lama2	C	T	10: 26,877,147 (GRCm39)	V2680M	possibly damaging	Het
Lipe	T	A	7: 25,088,007 (GRCm39)	M61L	probably benign	Het
Med17	A	G	9: 15,188,896 (GRCm39)	M123T	possibly damaging	Het
Mrpl37	T	C	4: 106,921,611 (GRCm39)	N206S	probably benign	Het
Muc4	A	T	16: 32,602,356 (GRCm39)	N1390Y		Het
Muc5ac	C	T	7: 141,354,008 (GRCm39)	A869V	possibly damaging	Het
Nckap5l	A	G	15: 99,327,290 (GRCm39)	V133A	probably benign	Het
Nin	A	T	12: 70,077,787 (GRCm39)		probably benign	Het
Nr1h2	C	T	7: 44,200,768 (GRCm39)	A287T	probably damaging	Het
Or8c16	A	T	9: 38,130,865 (GRCm39)	I246L	possibly damaging	Het
Patl1	A	G	19: 11,899,898 (GRCm39)	E230G	probably damaging	Het
Pbxip1	T	C	3: 89,355,235 (GRCm39)	S585P	probably damaging	Het
Pde3b	T	A	7: 114,015,278 (GRCm39)	W165R	possibly damaging	Het
Pdia4	A	C	6: 47,773,464 (GRCm39)	D628E	probably benign	Het
Pigo	T	A	4: 43,024,724 (GRCm39)	H125L	probably benign	Het
Platr25	A	T	13: 62,847,924 (GRCm39)	*313K	probably null	Het
Plxdc1	A	T	11: 97,846,337 (GRCm39)	M169K	possibly damaging	Het
Pxk	T	C	14: 8,151,496 (GRCm38)	I437T	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Rnf123	T	A	9: 107,948,363 (GRCm39)	D110V	probably damaging	Het
Rnf185	A	T	11: 3,368,052 (GRCm39)	F209I	probably benign	Het
Rpl4	A	T	9: 64,082,242 (GRCm39)	N47I	probably damaging	Het
Rsl1d1	A	T	16: 11,017,512 (GRCm39)	F151L	probably damaging	Het
Sema3d	T	C	5: 12,603,191 (GRCm39)		probably null	Het
Serhl	A	G	15: 82,986,126 (GRCm39)	N80D	probably benign	Het
Sh3tc1	C	A	5: 35,863,802 (GRCm39)	R795L	probably benign	Het
Snrnp200	A	G	2: 127,068,005 (GRCm39)	Y834C	probably damaging	Het
Ss18	G	C	18: 14,774,016 (GRCm39)	Q258E	probably damaging	Het
Telo2	G	A	17: 25,321,041 (GRCm39)	L725F	probably damaging	Het
Tnxb	A	G	17: 34,934,882 (GRCm39)	E2497G	probably damaging	Het
Tox2	A	G	2: 163,163,360 (GRCm39)	D111G		Het
Trim16	G	A	11: 62,731,763 (GRCm39)	E545K	probably benign	Het
Trpm7	A	G	2: 126,664,623 (GRCm39)	W919R	probably damaging	Het
Ttbk1	G	T	17: 46,756,127 (GRCm39)	S1301*	probably null	Het
Txk	T	C	5: 72,889,122 (GRCm39)	N144S	probably damaging	Het
Ubqln4	T	A	3: 88,473,090 (GRCm39)	V515E	probably benign	Het
Ush2a	C	T	1: 188,581,162 (GRCm39)	R3681*	probably null	Het
Ythdf3	A	T	3: 16,258,138 (GRCm39)	N106I	probably damaging	Het
Zfp367	A	T	13: 64,292,069 (GRCm39)	C187*	probably null	Het
Zfp735	A	G	11: 73,603,000 (GRCm39)	D648G	possibly damaging	Het
Zic1	T	C	9: 91,244,701 (GRCm39)		probably benign	Het
Zik1	A	G	7: 10,223,826 (GRCm39)	S424P	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
R7674: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
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'- AGCCTGTGTCACCGAAAAG -3'
(R):5'- TCGCACTGAACCCTGCATTC -3'

Sequencing Primer
(F):5'- GTTGGTTACAAATCACACTGGC -3'
(R):5'- ATACGACACGCTCCCGG -3'

Posted On

2021-03-08