Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02619:Slc5a12'

300779

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 #

IGL02619

Quality Score

Status

Chromosome

Chromosomal Location

110427643-110478124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110471201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 481 (V481A)

Ref Sequence

ENSEMBL: ENSMUSP00000047340 (fasta)

Gene Model

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

AlphaFold

Q49B93

Predicted Effect

probably benign
Transcript: ENSMUST00000045972
AA Change: V481A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: V481A

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
AA Change: V477A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: V477A

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: 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,620,016 (GRCm39)	G220E	possibly damaging	Het
Arhgef10l	A	G	4: 140,321,504 (GRCm39)	I101T	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Camkk2	A	T	5: 122,902,298 (GRCm39)	C4S	probably damaging	Het
Ccdc174	T	A	6: 91,876,538 (GRCm39)	D458E	possibly damaging	Het
Cercam	A	G	2: 29,770,686 (GRCm39)	N419S	probably benign	Het
Clca3a2	T	C	3: 144,512,083 (GRCm39)	N551S	probably damaging	Het
Cldn18	T	A	9: 99,580,988 (GRCm39)	I87F	probably damaging	Het
Ctso	T	A	3: 81,848,836 (GRCm39)		probably benign	Het
Ddhd2	C	A	8: 26,236,981 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,359,094 (GRCm39)	Y118N	probably damaging	Het
Ece1	C	T	4: 137,666,044 (GRCm39)	A296V	probably benign	Het
Fbxo40	T	A	16: 36,790,766 (GRCm39)	I115F	possibly damaging	Het
Fkbp9	T	A	6: 56,827,609 (GRCm39)	N143K	probably damaging	Het
Foxk2	G	T	11: 121,190,402 (GRCm39)		probably benign	Het
Ggnbp1	A	G	17: 27,248,529 (GRCm39)	K33E	probably benign	Het
Hace1	A	T	10: 45,547,530 (GRCm39)		probably benign	Het
Hk3	A	T	13: 55,162,107 (GRCm39)	C133S	probably damaging	Het
Kbtbd3	C	T	9: 4,331,252 (GRCm39)	A542V	probably damaging	Het
Lrch2	A	C	X: 146,263,537 (GRCm39)	V363G	probably damaging	Het
Lrch2	C	T	X: 146,302,131 (GRCm39)	C264Y	probably damaging	Het
Lrrc56	C	A	7: 140,787,546 (GRCm39)		probably benign	Het
Lrtm2	C	T	6: 119,294,199 (GRCm39)	V311M	probably damaging	Het
N4bp1	G	T	8: 87,587,529 (GRCm39)	Q470K	probably benign	Het
Naa15	A	C	3: 51,367,552 (GRCm39)	D575A	probably benign	Het
Ncaph	A	T	2: 126,969,456 (GRCm39)	V69D	probably damaging	Het
Nlrp5	G	A	7: 23,123,489 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,331 (GRCm39)	D100G	probably damaging	Het
Ofcc1	C	T	13: 40,250,553 (GRCm39)	V588M	possibly damaging	Het
Or4b13	G	T	2: 90,082,849 (GRCm39)	T161N	probably damaging	Het
Or5p4	C	A	7: 107,680,949 (GRCm39)		probably benign	Het
Osmr	C	A	15: 6,871,475 (GRCm39)	R314M	probably damaging	Het
Pcdhb16	C	T	18: 37,611,270 (GRCm39)	Q77*	probably null	Het
Pglyrp4	G	A	3: 90,642,955 (GRCm39)		probably null	Het
Ptprh	A	G	7: 4,552,498 (GRCm39)	F922S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rp1	T	A	1: 4,418,673 (GRCm39)	Q813L	possibly damaging	Het
Sgtb	A	G	13: 104,254,922 (GRCm39)	N64S	probably benign	Het
Slitrk1	A	G	14: 109,149,349 (GRCm39)	V454A	probably benign	Het
Sntg2	C	A	12: 30,317,025 (GRCm39)		probably null	Het
Synj1	C	T	16: 90,770,933 (GRCm39)	V499I	probably damaging	Het
Tmco1	T	C	1: 167,153,597 (GRCm39)		probably benign	Het
Tmem38b	T	C	4: 53,848,871 (GRCm39)	I92T	probably damaging	Het
Tmem9	T	C	1: 135,955,145 (GRCm39)	V93A	probably benign	Het
Ttn	T	A	2: 76,625,582 (GRCm39)	R15080S	possibly damaging	Het
Ube2e3	T	C	2: 78,749,065 (GRCm39)	I138T	probably damaging	Het
Urgcp	A	G	11: 5,665,752 (GRCm39)	I862T	possibly damaging	Het
Vmn1r68	A	T	7: 10,261,603 (GRCm39)	I165N	probably benign	Het
Washc4	G	A	10: 83,394,717 (GRCm39)	V316I	possibly damaging	Het
Zfp111	A	T	7: 23,899,113 (GRCm39)	L166Q	possibly damaging	Het
Zfyve1	A	T	12: 83,597,718 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,508,793 (GRCm39)		probably benign	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
IGL02456:Slc5a12	APN	2	110,447,179 (GRCm39)	splice site	probably benign
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