Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Slc5a12'

294197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a12

Ensembl Gene

ENSMUSG00000041644

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 12

Synonyms

SMCT2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

110597298-110647779 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 110616834 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045972] [ENSMUST00000111026]

Predicted Effect

probably benign
Transcript: ENSMUST00000045972

SMART Domains

Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644

Domain	Start	End	E-Value	Type
Pfam:SSF	41	449	6.5e-43	PFAM
transmembrane domain	507	529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111026

SMART Domains

Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644

Domain	Start	End	E-Value	Type
Pfam:SSF	41	445	6.2e-48	PFAM
transmembrane domain	503	525	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146664

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Slc5a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Slc5a12	APN	2	110597822	missense	probably damaging	1.00
IGL01337:Slc5a12	APN	2	110620373	nonsense	probably null
IGL01830:Slc5a12	APN	2	110597806	missense	probably damaging	1.00
IGL02619:Slc5a12	APN	2	110640856	missense	probably benign	0.00
IGL02832:Slc5a12	APN	2	110640815	missense	probably benign
IGL02890:Slc5a12	APN	2	110624133	splice site	probably benign
IGL03058:Slc5a12	APN	2	110640792	missense	probably benign	0.23
R0607:Slc5a12	UTSW	2	110632743	missense	probably benign	0.30
R1342:Slc5a12	UTSW	2	110617090	splice site	probably null
R1532:Slc5a12	UTSW	2	110610138	missense	possibly damaging	0.64
R1992:Slc5a12	UTSW	2	110621744	missense	probably benign	0.04
R2354:Slc5a12	UTSW	2	110609432	missense	probably damaging	0.97
R3830:Slc5a12	UTSW	2	110632736	nonsense	probably null
R4728:Slc5a12	UTSW	2	110644424	nonsense	probably null
R4822:Slc5a12	UTSW	2	110621740	missense	possibly damaging	0.90
R4937:Slc5a12	UTSW	2	110620408	missense	probably damaging	1.00
R5860:Slc5a12	UTSW	2	110597624	missense	probably benign	0.30
R6075:Slc5a12	UTSW	2	110616747	missense	probably damaging	1.00
R6168:Slc5a12	UTSW	2	110616744	missense	probably damaging	1.00
R6853:Slc5a12	UTSW	2	110624194	missense	probably benign	0.37
R6870:Slc5a12	UTSW	2	110641810	missense	probably damaging	0.99
R7014:Slc5a12	UTSW	2	110644364	missense	probably benign	0.00
R7135:Slc5a12	UTSW	2	110616714	missense	possibly damaging	0.86

Posted On

2015-04-16