Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

110427643-110478124 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 110447179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106655 (fasta)

Gene Model

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

AlphaFold

Q49B93

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
4921511C20Rik	T	A	X: 126,302,584 (GRCm39)	Y174*	probably null	Het
Apc	C	A	18: 34,446,935 (GRCm39)	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578 (GRCm39)	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,159,458 (GRCm39)	F79I	probably damaging	Het
Brip1	G	T	11: 85,955,925 (GRCm39)	L863I	possibly damaging	Het
Cbx4	T	A	11: 118,972,938 (GRCm39)	K146*	probably null	Het
Ces1a	C	T	8: 93,766,126 (GRCm39)	V163I	possibly damaging	Het
Ces5a	C	T	8: 94,255,272 (GRCm39)		probably benign	Het
Cfhr1	A	C	1: 139,484,131 (GRCm39)	N128K	possibly damaging	Het
Clcn3	T	C	8: 61,394,391 (GRCm39)	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,068,955 (GRCm39)	I166S	probably benign	Het
Cntnap3	A	T	13: 64,946,872 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,714,739 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,430 (GRCm39)	V626E	probably damaging	Het
Dele1	T	A	18: 38,394,177 (GRCm39)	L458Q	probably damaging	Het
Gcm2	T	C	13: 41,256,477 (GRCm39)	Y424C	probably benign	Het
Gm9964	A	G	11: 79,187,196 (GRCm39)	F84L	probably damaging	Het
Grn	T	A	11: 102,326,930 (GRCm39)	D509E	probably benign	Het
Iho1	G	T	9: 108,283,820 (GRCm39)	T208K	probably benign	Het
Kdm5c	G	A	X: 151,029,314 (GRCm39)	D343N	probably damaging	Het
Ly75	C	T	2: 60,124,125 (GRCm39)	M1717I	probably benign	Het
Map1a	C	A	2: 121,129,134 (GRCm39)	P133T	probably damaging	Het
Mpp2	C	A	11: 101,950,199 (GRCm39)	A552S	possibly damaging	Het
Mtr	T	C	13: 12,213,980 (GRCm39)	I897M	probably damaging	Het
Npas3	A	T	12: 54,095,550 (GRCm39)	I337F	probably damaging	Het
Nup85	T	C	11: 115,472,691 (GRCm39)		probably benign	Het
Or10a49	A	G	7: 108,468,257 (GRCm39)	Y35H	probably benign	Het
Or10al2	T	A	17: 37,983,340 (GRCm39)	M142K	possibly damaging	Het
Or2t46	T	A	11: 58,472,024 (GRCm39)	L118H	possibly damaging	Het
Or51l4	T	A	7: 103,404,700 (GRCm39)	I31F	possibly damaging	Het
Or56a5	T	C	7: 104,792,966 (GRCm39)	N178S	probably damaging	Het
Pdia4	A	T	6: 47,780,429 (GRCm39)	D301E	probably benign	Het
Phf2	C	A	13: 48,982,322 (GRCm39)	G134C	unknown	Het
Polr2h	T	A	16: 20,539,352 (GRCm39)	L76H	probably damaging	Het
Rbm47	G	A	5: 66,184,364 (GRCm39)	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,507,837 (GRCm39)	S286P	probably damaging	Het
Tacc2	T	C	7: 130,227,991 (GRCm39)	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,101,372 (GRCm39)	H46P	probably damaging	Het
Tbck	A	G	3: 132,440,475 (GRCm39)		probably benign	Het
Tmtc4	A	T	14: 123,163,374 (GRCm39)		probably null	Het
Ttc13	T	C	8: 125,417,100 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,193,130 (GRCm39)		probably benign	Het
Vmn1r121	T	A	7: 20,832,438 (GRCm39)	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,860,258 (GRCm39)	S2825P	probably damaging	Het
Zan	A	C	5: 137,445,106 (GRCm39)	S1718A	unknown	Het
Zfp39	G	T	11: 58,793,626 (GRCm39)	Y37*	probably null	Het
Zfp407	T	C	18: 84,576,766 (GRCm39)	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,687,035 (GRCm39)	D801E	possibly damaging	Het

Other mutations in Slc5a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Slc5a12	APN	2	110,428,167 (GRCm39)	missense	probably damaging	1.00
IGL01337:Slc5a12	APN	2	110,450,718 (GRCm39)	nonsense	probably null
IGL01830:Slc5a12	APN	2	110,428,151 (GRCm39)	missense	probably damaging	1.00
IGL02619:Slc5a12	APN	2	110,471,201 (GRCm39)	missense	probably benign	0.00
IGL02832:Slc5a12	APN	2	110,471,160 (GRCm39)	missense	probably benign
IGL02890:Slc5a12	APN	2	110,454,478 (GRCm39)	splice site	probably benign
IGL03058:Slc5a12	APN	2	110,471,137 (GRCm39)	missense	probably benign	0.23
R0607:Slc5a12	UTSW	2	110,463,088 (GRCm39)	missense	probably benign	0.30
R1342:Slc5a12	UTSW	2	110,447,435 (GRCm39)	splice site	probably null
R1532:Slc5a12	UTSW	2	110,440,483 (GRCm39)	missense	possibly damaging	0.64
R1992:Slc5a12	UTSW	2	110,452,089 (GRCm39)	missense	probably benign	0.04
R2354:Slc5a12	UTSW	2	110,439,777 (GRCm39)	missense	probably damaging	0.97
R3830:Slc5a12	UTSW	2	110,463,081 (GRCm39)	nonsense	probably null
R4728:Slc5a12	UTSW	2	110,474,769 (GRCm39)	nonsense	probably null
R4822:Slc5a12	UTSW	2	110,452,085 (GRCm39)	missense	possibly damaging	0.90
R4937:Slc5a12	UTSW	2	110,450,753 (GRCm39)	missense	probably damaging	1.00
R5860:Slc5a12	UTSW	2	110,427,969 (GRCm39)	missense	probably benign	0.30
R6075:Slc5a12	UTSW	2	110,447,092 (GRCm39)	missense	probably damaging	1.00
R6168:Slc5a12	UTSW	2	110,447,089 (GRCm39)	missense	probably damaging	1.00
R6853:Slc5a12	UTSW	2	110,454,539 (GRCm39)	missense	probably benign	0.37
R6870:Slc5a12	UTSW	2	110,472,155 (GRCm39)	missense	probably damaging	0.99
R7014:Slc5a12	UTSW	2	110,474,709 (GRCm39)	missense	probably benign	0.00
R7135:Slc5a12	UTSW	2	110,447,059 (GRCm39)	missense	possibly damaging	0.86
R8936:Slc5a12	UTSW	2	110,467,455 (GRCm39)	missense	probably damaging	1.00
R9000:Slc5a12	UTSW	2	110,454,525 (GRCm39)	missense	probably damaging	1.00
R9145:Slc5a12	UTSW	2	110,471,242 (GRCm39)	missense	probably benign	0.21
R9362:Slc5a12	UTSW	2	110,447,044 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16