Mutagenetix > Incidental Mutation

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

045792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22520910-22580184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22540717 bp (GRCm39)

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]

AlphaFold

Q8BFW9

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: 71,359,123 (GRCm39)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,731,965 (GRCm39)	F204S	probably benign	Het
Apoa2	T	C	1: 171,053,741 (GRCm39)	L72P	probably damaging	Het
Arhgef10	A	T	8: 15,030,583 (GRCm39)	K987*	probably null	Het
Arrb1	A	G	7: 99,188,981 (GRCm39)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm39)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,229,084 (GRCm39)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,801,072 (GRCm39)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,154,025 (GRCm39)	G261R	probably benign	Het
Cd53	T	A	3: 106,675,252 (GRCm39)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,103,519 (GRCm39)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,480,636 (GRCm39)	V256L	unknown	Het
Cilp2	A	G	8: 70,334,071 (GRCm39)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,988,187 (GRCm39)	T107A	possibly damaging	Het
Dhx16	T	A	17: 36,192,568 (GRCm39)	W167R	possibly damaging	Het
Dkk2	T	G	3: 131,883,775 (GRCm39)	L225R	probably damaging	Het
Dmbt1	A	T	7: 130,718,625 (GRCm39)	D1782V	unknown	Het
Ebag9	A	T	15: 44,491,800 (GRCm39)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,610,382 (GRCm39)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,190,473 (GRCm39)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 154,792,747 (GRCm39)	I427L	probably benign	Het
Ganc	A	T	2: 120,264,295 (GRCm39)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm39)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,589,747 (GRCm39)	V534E	probably damaging	Het
Gm7324	T	A	14: 43,952,256 (GRCm39)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,491,549 (GRCm39)	N733K	possibly damaging	Het
Hivep3	C	T	4: 119,952,740 (GRCm39)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,683,121 (GRCm39)	V266G	probably benign	Het
Ip6k1	G	T	9: 107,922,891 (GRCm39)	G341V	probably damaging	Het
Itga3	G	T	11: 94,967,029 (GRCm39)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,107,147 (GRCm39)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,578,128 (GRCm39)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,388,285 (GRCm39)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,460,705 (GRCm39)	T444A	probably benign	Het
M1ap	T	C	6: 82,982,565 (GRCm39)	I283T	probably benign	Het
Mapre2	T	C	18: 24,011,012 (GRCm39)	S207P	probably benign	Het
Moxd1	T	C	10: 24,158,608 (GRCm39)	F421L	probably damaging	Het
Nos2	T	A	11: 78,813,192 (GRCm39)	C33*	probably null	Het
Or14j4	A	T	17: 37,921,303 (GRCm39)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,530,197 (GRCm39)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,494,758 (GRCm39)	T7A	probably damaging	Het
Otud4	T	C	8: 80,382,394 (GRCm39)	I201T	possibly damaging	Het
Pank4	T	C	4: 155,054,204 (GRCm39)	Y128H	probably benign	Het
Phf11	C	T	14: 59,488,594 (GRCm39)	D68N	probably benign	Het
Pitpnm2	A	G	5: 124,261,093 (GRCm39)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,946,991 (GRCm39)	V8A	probably benign	Het
Por	A	G	5: 135,759,976 (GRCm39)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,223,500 (GRCm39)	L14*	probably null	Het
Ptgis	A	G	2: 167,033,891 (GRCm39)	F459S	unknown	Het
Ptpru	T	C	4: 131,515,693 (GRCm39)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Slc18a1	A	G	8: 69,518,206 (GRCm39)		probably null	Het
Slc27a3	A	G	3: 90,296,740 (GRCm39)	S120P	probably benign	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Syncrip	A	G	9: 88,343,721 (GRCm39)		probably null	Het
Taar4	T	A	10: 23,836,897 (GRCm39)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,116,923 (GRCm39)	G237D	probably benign	Het
Tle1	T	C	4: 72,117,571 (GRCm39)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,847,875 (GRCm39)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm39)	F698L	probably benign	Het
Ttn	T	A	2: 76,739,574 (GRCm39)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,600,757 (GRCm39)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,059,757 (GRCm39)	A321E	unknown	Het
Zdbf2	T	A	1: 63,347,166 (GRCm39)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,146,176 (GRCm39)	N61K	probably null	Het
Zfp867	C	T	11: 59,354,016 (GRCm39)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,132,319 (GRCm39)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,923,510 (GRCm39)	Q95*	probably null	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
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'- CCTAGGACTTGGAAGCTTGG -3'
(R):5'- TTCTTCAGTGGTGTCTGAGATCAC -3'

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

Posted On

2019-11-26