Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02832:Slc5a12'

361486

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 #

IGL02832

Quality Score

Status

Chromosome

Chromosomal Location

110427643-110478124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110471160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 463 (E463D)

Ref Sequence

ENSEMBL: ENSMUSP00000106655 (fasta)

Gene Model

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

AlphaFold

Q49B93

Predicted Effect

probably benign
Transcript: ENSMUST00000045972
AA Change: E467D

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

SMART Domains

Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: E467D

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: E463D

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

SMART Domains

Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: E463D

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,784,156 (GRCm39)	T985M	probably damaging	Het
Alpk1	A	G	3: 127,473,592 (GRCm39)	S804P	possibly damaging	Het
Ap3b1	A	G	13: 94,664,835 (GRCm39)	I925V	unknown	Het
Cep135	T	A	5: 76,788,796 (GRCm39)	S1130T	probably damaging	Het
Cers3	A	T	7: 66,431,573 (GRCm39)	M183L	probably benign	Het
Col5a1	A	G	2: 27,842,352 (GRCm39)	E409G	unknown	Het
Cyp4a32	G	T	4: 115,471,818 (GRCm39)	V410F	probably damaging	Het
Ddx1	G	A	12: 13,277,318 (GRCm39)	Q528*	probably null	Het
Dio2	G	A	12: 90,696,178 (GRCm39)		probably benign	Het
Dnah9	G	T	11: 65,931,172 (GRCm39)	A2008E	probably damaging	Het
Dnajc2	A	G	5: 21,965,408 (GRCm39)	V457A	probably benign	Het
Dytn	T	C	1: 63,682,532 (GRCm39)	T372A	probably benign	Het
Fam135a	T	C	1: 24,067,714 (GRCm39)	I152V	probably benign	Het
Fmnl2	C	T	2: 52,748,261 (GRCm39)	A36V	possibly damaging	Het
Galnt7	G	A	8: 58,005,531 (GRCm39)	T234I	probably damaging	Het
Gba1	A	C	3: 89,110,809 (GRCm39)	I6L	probably benign	Het
Gja10	A	G	4: 32,602,147 (GRCm39)	V79A	probably damaging	Het
Gpd2	T	A	2: 57,228,991 (GRCm39)	V265E	probably damaging	Het
Gpld1	T	C	13: 25,136,861 (GRCm39)	Y60H	probably damaging	Het
H2bc27	A	G	11: 58,839,869 (GRCm39)	K35R	probably benign	Het
Heatr9	A	G	11: 83,409,672 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,476,508 (GRCm39)	D419V	probably benign	Het
Lrig3	A	T	10: 125,842,871 (GRCm39)	I599F	probably benign	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Mamdc2	C	T	19: 23,281,215 (GRCm39)	A653T	probably damaging	Het
Myo7a	A	T	7: 97,740,227 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,044,689 (GRCm39)	D1537G	probably benign	Het
Or10k2	G	A	8: 84,268,100 (GRCm39)	C109Y	probably damaging	Het
Or51a25	G	T	7: 102,372,858 (GRCm39)	H280N	probably benign	Het
Or52ae7	A	T	7: 103,119,905 (GRCm39)	I220L	probably benign	Het
Papss1	A	C	3: 131,288,280 (GRCm39)	D84A	probably damaging	Het
Pcdhb16	T	A	18: 37,611,527 (GRCm39)	D162E	probably damaging	Het
Rab11fip1	C	T	8: 27,642,840 (GRCm39)	R653Q	possibly damaging	Het
Rap1gap2	A	T	11: 74,303,281 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,777 (GRCm39)	D990G	probably damaging	Het
Rnf32	T	C	5: 29,410,701 (GRCm39)		probably null	Het
Rp1	T	C	1: 4,419,936 (GRCm39)	D392G	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Selenon	A	T	4: 134,268,219 (GRCm39)	V438D	probably damaging	Het
Slc47a1	G	A	11: 61,254,239 (GRCm39)	H158Y	probably benign	Het
Taf2	C	T	15: 54,879,959 (GRCm39)	V1126M	probably benign	Het
Tas2r143	G	T	6: 42,377,259 (GRCm39)	V30L	possibly damaging	Het
Tcea3	G	A	4: 135,995,424 (GRCm39)	V256M	probably damaging	Het
Thy1	A	G	9: 43,958,111 (GRCm39)	T80A	probably benign	Het
Tmem9	A	G	1: 135,947,469 (GRCm39)	N47S	probably damaging	Het
Tmprss11g	T	C	5: 86,645,128 (GRCm39)	Q101R	probably benign	Het
Trim66	C	T	7: 109,059,704 (GRCm39)	C792Y	probably damaging	Het
Tstd2	A	T	4: 46,124,949 (GRCm39)	M226K	probably damaging	Het
Utrn	G	T	10: 12,613,937 (GRCm39)	T378K	possibly damaging	Het
Vmn2r23	A	G	6: 123,681,355 (GRCm39)	I88V	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
IGL02619:Slc5a12	APN	2	110,471,201 (GRCm39)	missense	probably benign	0.00
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

2015-12-18