Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:Slc2a12'

319253

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

041641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22645011-22704285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22702094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 596 (K596N)

Ref Sequence

ENSEMBL: ENSMUSP00000043962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042261] [ENSMUST00000095794] [ENSMUST00000127698]

AlphaFold

Q8BFW9

Predicted Effect

probably benign
Transcript: ENSMUST00000042261
AA Change: K596N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: K596N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095794

SMART Domains

Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359

Domain	Start	End	E-Value	Type
Pfam:TBP	8	92	8.3e-24	PFAM
Pfam:TBP	97	182	4.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127698

SMART Domains

Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359

Domain	Start	End	E-Value	Type
Pfam:TBP	10	91	2.4e-25	PFAM
Pfam:TBP	99	181	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141569

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,381,991	G269E	probably damaging	Het
A1bg	G	T	15: 60,919,736	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,906,174	V536A	probably damaging	Het
AI464131	T	C	4: 41,498,307	E441G	probably benign	Het
Arsi	A	T	18: 60,916,701	I219F	probably damaging	Het
Atg7	G	A	6: 114,703,425	G447E	probably benign	Het
Bdp1	T	A	13: 100,059,585	H1223L	probably benign	Het
Cep152	A	G	2: 125,620,001	M87T	probably benign	Het
Chrm3	T	C	13: 9,877,755	D415G	probably benign	Het
Chrnb2	A	T	3: 89,761,544	C155S	probably damaging	Het
Col6a4	T	A	9: 106,075,370	Q443L	probably benign	Het
D5Ertd579e	A	T	5: 36,614,479	D857E	probably damaging	Het
Efcab6	T	C	15: 83,892,863	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,460,353	A440T	probably benign	Het
Gc	T	C	5: 89,435,575	K370E	probably benign	Het
Gm11559	A	G	11: 99,864,900	Q125R	unknown	Het
Gm3985	A	T	8: 32,942,456		noncoding transcript	Het
Gm648	C	T	X: 56,545,208	V78I	probably benign	Het
Gm8765	C	T	13: 50,700,352	T82I	possibly damaging	Het
Gucy2e	A	G	11: 69,228,123	F681S	probably damaging	Het
Hip1r	A	G	5: 123,999,890	I760V	probably benign	Het
Islr2	C	T	9: 58,199,320	G219D	probably damaging	Het
Itgae	A	G	11: 73,119,352	H556R	probably benign	Het
Jag1	T	C	2: 137,085,070	D923G	probably benign	Het
Kmt2c	A	G	5: 25,347,359		probably null	Het
Kmt2d	A	G	15: 98,845,003		probably benign	Het
Krtap17-1	A	G	11: 99,993,914	L9P	unknown	Het
Lats2	C	T	14: 57,696,255	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,843,820	T632S	probably benign	Het
Myo9a	C	T	9: 59,906,066	R2183*	probably null	Het
Naip1	T	C	13: 100,426,875		probably null	Het
Nf1	T	A	11: 79,469,798	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,447,115	Y91C	possibly damaging	Het
Olfr1454	T	G	19: 13,063,759	M116R	probably damaging	Het
Olfr173	T	A	16: 58,797,369	H159L	possibly damaging	Het
Olfr723	A	T	14: 49,928,889	Y218*	probably null	Het
Pard3	T	A	8: 127,610,458	I1143K	probably benign	Het
Pcdha7	A	G	18: 36,974,974	T351A	probably benign	Het
Phf2	C	A	13: 48,820,613	G318V	unknown	Het
Plch1	T	A	3: 63,870,759		probably benign	Het
Polr1c	A	G	17: 46,246,120	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,469,551	I244T	probably damaging	Het
Psmd12	T	C	11: 107,485,759	C74R	probably damaging	Het
Ralgapa1	A	G	12: 55,739,330		probably null	Het
Robo3	C	T	9: 37,421,898	G781D	probably damaging	Het
Scn8a	T	C	15: 100,957,073	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,603,398	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,332,306	L139*	probably null	Het
Sorcs1	G	A	19: 50,225,175	R705C	probably damaging	Het
Tlr4	T	A	4: 66,840,326	I452N	probably damaging	Het
Tshz3	A	G	7: 36,770,119	D511G	probably damaging	Het
Usp44	A	G	10: 93,846,770	K314E	possibly damaging	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
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
R7736:Slc2a12	UTSW	10	22664818	missense	probably damaging	1.00
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
R9099:Slc2a12	UTSW	10	22694024	missense	possibly damaging	0.94
R9224:Slc2a12	UTSW	10	22665362	missense	possibly damaging	0.73
R9283:Slc2a12	UTSW	10	22664612	missense	probably damaging	0.99
R9294:Slc2a12	UTSW	10	22665095	missense	possibly damaging	0.79
R9576:Slc2a12	UTSW	10	22702105	missense	possibly damaging	0.62
Z1177:Slc2a12	UTSW	10	22645241	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCAAGCACATTAAGGCTTCACAG -3'
(R):5'- TCAGGACATTGGTGCCTCTTG -3'

Sequencing Primer
(F):5'- GGCTTCACAGTAAAAACGTTTTTCC -3'
(R):5'- GCCTCTTGTACCTTTTGGCAAAAG -3'

Posted On

2015-06-10