Mutagenetix > Incidental Mutations

Incidental Mutation 'R7736:Slc2a12'

596270

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22645011-22704285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22664818 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 191 (Y191N)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042261
AA Change: Y191N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: Y191N

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: 99.2%

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
Abca12	T	G	1: 71,319,964	D561A	probably benign	Het
Adgrg1	T	C	8: 95,005,337	F204S	probably benign	Het
Apoa2	T	C	1: 171,226,172	L72P	probably damaging	Het
Arhgef10	A	T	8: 14,980,583	K987*	probably null	Het
Arrb1	A	G	7: 99,539,774	D9G	unknown	Het
Asph	A	G	4: 9,621,930	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,387,164	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,893,790	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,312,105	G261R	probably benign	Het
Cd53	T	A	3: 106,767,936	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,053,520	D366V	probably benign	Het
Ceacam10	G	C	7: 24,781,211	V256L	unknown	Het
Cilp2	A	G	8: 69,881,421	Y976H	probably damaging	Het
Cklf	A	G	8: 104,261,555	T107A	possibly damaging	Het
Dhx16	T	A	17: 35,881,676	W167R	possibly damaging	Het
Dkk2	T	G	3: 132,178,014	L225R	probably damaging	Het
Dmbt1	A	T	7: 131,116,896	D1782V	unknown	Het
Ebag9	A	T	15: 44,628,404	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,477,317	N144D	possibly damaging	Het
Foxk2	A	T	11: 121,299,647	Q538L	possibly damaging	Het
Fpgt	T	G	3: 155,087,110	I427L	probably benign	Het
Ganc	A	T	2: 120,433,814	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379	Y556C	probably damaging	Het
Gga2	A	T	7: 121,990,524	V534E	probably damaging	Het
Gm6904	C	T	14: 59,251,145	D68N	probably benign	Het
Gm7324	T	A	14: 43,714,799	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,615,453	N733K	possibly damaging	Het
Hivep3	C	T	4: 120,095,543	T352I	possibly damaging	Het
Ift88	T	G	14: 57,445,664	V266G	probably benign	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Ip6k1	G	T	9: 108,045,692	G341V	probably damaging	Het
Itga3	G	T	11: 95,076,203	A45E	probably damaging	Het
Kctd14	T	A	7: 97,457,940	L134Q	probably damaging	Het
Lats1	C	A	10: 7,702,364	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,497,459	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,630,360	T444A	probably benign	Het
M1ap	T	C	6: 83,005,584	I283T	probably benign	Het
Mapre2	T	C	18: 23,877,955	S207P	probably benign	Het
Moxd1	T	C	10: 24,282,710	F421L	probably damaging	Het
Nos2	T	A	11: 78,922,366	C33*	probably null	Het
Olfr115	A	T	17: 37,610,412	L113H	probably damaging	Het
Olfr154	T	C	2: 85,664,414	T7A	probably damaging	Het
Olfr345	A	T	2: 36,640,185	I49F	probably damaging	Het
Otud4	T	C	8: 79,655,765	I201T	possibly damaging	Het
Pank4	T	C	4: 154,969,747	Y128H	probably benign	Het
Pitpnm2	A	G	5: 124,123,030	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,969,623	V8A	probably benign	Het
Por	A	G	5: 135,731,122	E221G	probably damaging	Het
Prokr2	A	T	2: 132,381,580	L14*	probably null	Het
Ptgis	A	G	2: 167,191,971	F459S	unknown	Het
Ptpru	T	C	4: 131,788,382	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Slc18a1	A	G	8: 69,065,554		probably null	Het
Slc27a3	A	G	3: 90,389,433	S120P	probably benign	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Syncrip	A	G	9: 88,461,668		probably null	Het
Taar4	T	A	10: 23,960,999	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,032,466	G237D	probably benign	Het
Tle1	T	C	4: 72,199,334	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,940,568	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455	F698L	probably benign	Het
Ttn	T	A	2: 76,909,230	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,452,891	R685K	probably benign	Het
Ylpm1	C	A	12: 85,012,983	A321E	unknown	Het
Zdbf2	T	A	1: 63,308,007	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,169,532	N61K	probably null	Het
Zfp867	C	T	11: 59,463,190	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,195,509	T404I	probably benign	Het
Zrsr1	C	T	11: 22,973,510	Q95*	probably null	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
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
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
Z1177:Slc2a12	UTSW	10	22645241	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCTAGGACTTGGAAGCTTGG -3'
(R):5'- TTCTTCAGTGGTGTCTGAGATCAC -3'

Sequencing Primer
(F):5'- GATAATGAGTTTGTCCTACACGCTC -3'
(R):5'- GAGATCACTCTTAACTTCCTGAGGAC -3'

Posted On

2019-11-26