Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Slc5a12'

535075

Institutional Source

Beutler Lab

Gene Symbol

Slc5a12

Ensembl Gene

ENSMUSG00000041644

Gene Name

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

Synonyms

SMCT2

MMRRC Submission

044956-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R6853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110427643-110478124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110454539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 367 (S367G)

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: S367G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: S367G

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: S367G

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: S367G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,818,031 (GRCm39)	D138E	probably benign	Het
Atp13a5	A	G	16: 29,140,480 (GRCm39)	S359P	possibly damaging	Het
Bcam	T	C	7: 19,494,331 (GRCm39)	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,236,476 (GRCm39)	W9L	unknown	Het
Cacul1	A	T	19: 60,517,904 (GRCm39)	Y334*	probably null	Het
Ccdc178	A	T	18: 22,242,933 (GRCm39)	N227K	probably benign	Het
Ceacam2	T	C	7: 25,217,561 (GRCm39)	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,019,833 (GRCm39)	S553R	possibly damaging	Het
Ctsa	T	A	2: 164,679,284 (GRCm39)	M331K	probably benign	Het
Cyp2c38	T	A	19: 39,426,748 (GRCm39)	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,172,364 (GRCm39)	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,071,500 (GRCm39)	V1267M	probably damaging	Het
Ddias	C	T	7: 92,508,773 (GRCm39)	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,935 (GRCm39)	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Farp2	T	C	1: 93,497,738 (GRCm39)	F256S	probably damaging	Het
Fga	A	G	3: 82,938,219 (GRCm39)	Y198C	probably damaging	Het
Gabpa	T	A	16: 84,657,387 (GRCm39)	C421S	probably damaging	Het
Gm21798	A	T	15: 64,689,714 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,716 (GRCm39)		probably benign	Het
Gm7145	A	C	1: 117,913,874 (GRCm39)	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,647,335 (GRCm39)	*327R	probably null	Het
H6pd	T	C	4: 150,066,919 (GRCm39)	D489G	probably benign	Het
Htra2	A	G	6: 83,030,812 (GRCm39)		probably benign	Het
Ice1	T	G	13: 70,751,421 (GRCm39)	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,609,402 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,120,077 (GRCm39)	D320G	probably damaging	Het
Kif1a	T	G	1: 92,967,524 (GRCm39)	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 69,084,915 (GRCm39)	D609N	probably damaging	Het
Lgals9	A	T	11: 78,856,832 (GRCm39)	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,449,080 (GRCm39)		probably null	Het
Mtus2	A	G	5: 148,043,821 (GRCm39)	K803R	probably damaging	Het
Oas1a	T	A	5: 121,045,491 (GRCm39)	I17L	possibly damaging	Het
Or2h2c	G	A	17: 37,422,400 (GRCm39)	T158I	probably benign	Het
Or5b121	T	A	19: 13,507,295 (GRCm39)	I130K	possibly damaging	Het
Or5k15	C	T	16: 58,710,121 (GRCm39)	S154N	possibly damaging	Het
Or5k15	T	A	16: 58,710,122 (GRCm39)	S154C	probably damaging	Het
Or7g32	T	G	9: 19,408,102 (GRCm39)	Y19*	probably null	Het
Otof	T	C	5: 30,545,583 (GRCm39)	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,188,536 (GRCm39)	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,472,566 (GRCm39)	T859A	probably damaging	Het
Ralbp1	C	T	17: 66,159,751 (GRCm39)	R504H	possibly damaging	Het
Sdk2	A	G	11: 113,671,755 (GRCm39)	F2131S	probably damaging	Het
Sik1	A	T	17: 32,073,180 (GRCm39)		probably null	Het
Sis	A	G	3: 72,798,759 (GRCm39)	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,732,376 (GRCm39)	I304T	possibly damaging	Het
Smchd1	A	T	17: 71,743,738 (GRCm39)	W476R	probably damaging	Het
Spag17	T	C	3: 99,920,551 (GRCm39)	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,653,023 (GRCm39)	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,535,412 (GRCm39)	V214I	possibly damaging	Het
Supt6	T	C	11: 78,123,656 (GRCm39)	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,486,502 (GRCm39)	G990R	possibly damaging	Het
Thop1	T	C	10: 80,911,495 (GRCm39)		probably null	Het
Thumpd2	C	A	17: 81,372,459 (GRCm39)	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,145,810 (GRCm39)	I574L	probably damaging	Het
Tnfaip3	A	G	10: 18,879,499 (GRCm39)	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ush2a	T	G	1: 188,643,434 (GRCm39)	Y4265*	probably null	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,240,771 (GRCm39)	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,286,063 (GRCm39)	Y187F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCTATGTTGCCATGCCTC -3'
(R):5'- AGAGCACCATTCCTTCCTGG -3'

Sequencing Primer
(F):5'- ATGCCTCTCCTGGACAATAAGGTTG -3'
(R):5'- CCCTTCTGGTAAGAACTCTGGAAG -3'

Posted On

2018-09-12