Mutagenetix > Incidental Mutation

Incidental Mutation 'R9283:Slc2a12'

703763

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22520910-22580184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22540511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 122 (G122E)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

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

AlphaFold

Q8BFW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042261
AA Change: G122E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: G122E

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,499 (GRCm39)	V47A	probably benign	Het
Aamdc	A	G	7: 97,199,842 (GRCm39)	V140A	probably benign	Het
Acsm3	T	A	7: 119,373,115 (GRCm39)	M206K	possibly damaging	Het
Adprhl1	T	C	8: 13,273,540 (GRCm39)	T1073A	probably benign	Het
Aoc1	A	G	6: 48,882,261 (GRCm39)	I46V	probably benign	Het
Ap4b1	A	G	3: 103,722,259 (GRCm39)	S246G	probably damaging	Het
Bach1	A	G	16: 87,516,211 (GRCm39)	T251A	probably benign	Het
Cry2	A	G	2: 92,244,249 (GRCm39)	L308P	probably damaging	Het
Daam1	G	T	12: 72,035,696 (GRCm39)	G964C	probably damaging	Het
Ddx10	T	G	9: 53,146,656 (GRCm39)	N189H	probably benign	Het
Dlg4	T	A	11: 69,922,617 (GRCm39)	C241*	probably null	Het
Dpy19l1	G	T	9: 24,332,412 (GRCm39)	Y489*	probably null	Het
E2f4	C	A	8: 106,024,395 (GRCm39)	A8E	probably benign	Het
Gm3486	T	C	14: 41,210,268 (GRCm39)	N71S	possibly damaging	Het
Ighv1-23	A	G	12: 114,728,225 (GRCm39)	W66R	probably damaging	Het
Kcnh5	A	G	12: 75,023,307 (GRCm39)	L587P	probably damaging	Het
Kctd16	T	C	18: 40,392,233 (GRCm39)	Y274H	possibly damaging	Het
Kif16b	T	A	2: 142,554,900 (GRCm39)	M633L	probably benign	Het
Kif23	T	C	9: 61,852,651 (GRCm39)	N21S	probably benign	Het
Lamtor3	C	T	3: 137,633,123 (GRCm39)	R85C	probably benign	Het
Lin9	A	T	1: 180,493,493 (GRCm39)	T240S	probably damaging	Het
Mtus1	C	A	8: 41,536,519 (GRCm39)	G399V	probably benign	Het
Mup8	C	T	4: 60,221,903 (GRCm39)	V77I	probably benign	Het
Myo5b	C	T	18: 74,777,149 (GRCm39)	A403V	probably benign	Het
Naf1	C	A	8: 67,313,503 (GRCm39)	A162E	unknown	Het
Nat10	G	A	2: 103,556,092 (GRCm39)	Q910*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npas2	A	G	1: 39,326,689 (GRCm39)	K58R	probably damaging	Het
Nsd2	A	T	5: 34,001,058 (GRCm39)	I192F	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or10a3	C	T	7: 108,480,289 (GRCm39)	A175T	probably benign	Het
Or2d4	G	A	7: 106,543,806 (GRCm39)	T134I	probably benign	Het
Or5b105	C	A	19: 13,079,821 (GRCm39)	M282I	probably damaging	Het
Or5b12b	T	A	19: 12,861,961 (GRCm39)	C239S	probably damaging	Het
Or7e177	A	G	9: 20,212,419 (GRCm39)	K309E	possibly damaging	Het
Pcdh17	C	T	14: 84,685,593 (GRCm39)	P687S	possibly damaging	Het
Pdpr	C	T	8: 111,856,268 (GRCm39)	R664W	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,708 (GRCm39)	V498E	probably damaging	Het
Pfpl	A	T	19: 12,406,220 (GRCm39)	Y157F	probably damaging	Het
Piezo2	A	T	18: 63,157,637 (GRCm39)	F2358I	probably damaging	Het
Pip5k1b	T	C	19: 24,337,376 (GRCm39)	Y304C	probably damaging	Het
Pls1	G	A	9: 95,655,642 (GRCm39)	A370V	probably benign	Het
Polm	A	T	11: 5,779,050 (GRCm39)	L490H	probably damaging	Het
Prdm5	T	C	6: 65,858,060 (GRCm39)	C375R	probably damaging	Het
Scmh1	A	T	4: 120,319,337 (GRCm39)	M21L	probably benign	Het
Sec16a	C	A	2: 26,313,904 (GRCm39)	R449S		Het
Sin3a	C	T	9: 57,002,717 (GRCm39)	T203I	probably damaging	Het
Six5	A	G	7: 18,829,148 (GRCm39)	E196G	probably damaging	Het
Skint8	T	C	4: 111,785,644 (GRCm39)	V30A	probably damaging	Het
Smim14	A	G	5: 65,625,780 (GRCm39)	C11R	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tanc1	T	C	2: 59,630,174 (GRCm39)	I718T	probably damaging	Het
Tead4	A	G	6: 128,205,592 (GRCm39)	L370P	probably damaging	Het
Tnrc6c	A	G	11: 117,591,630 (GRCm39)	K15E	unknown	Het
Trim55	T	G	3: 19,699,612 (GRCm39)		probably null	Het
Trpm1	A	T	7: 63,873,623 (GRCm39)	N510I	probably benign	Het
Trps1	A	G	15: 50,694,447 (GRCm39)	V616A	probably damaging	Het
Usp42	A	T	5: 143,705,264 (GRCm39)	V405E	probably damaging	Het
Zfp11	A	T	5: 129,734,748 (GRCm39)	S238T	probably damaging	Het
Zfp608	T	C	18: 55,030,913 (GRCm39)	H1009R	possibly 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
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
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'- TGGAGCTCTTCTGCAGATCAG -3'
(R):5'- ACCATTGGAGATGTTGGCAAATG -3'

Sequencing Primer
(F):5'- GAACGCTATTAGCCCTGACCTG -3'
(R):5'- TACCAGTGACAATCATCAGCTCATTC -3'

Posted On

2022-03-25