Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Slc5a12'

694540

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

Accession Numbers

Essential gene?

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

Stock #

R9145 (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 110471242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 495 (S495G)

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: S495G

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: S495G

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: S491G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: S491G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,536,032 (GRCm39)	H720L	probably benign	Het
Abca15	T	C	7: 119,987,388 (GRCm39)	Y1225H	probably benign	Het
Adck1	C	A	12: 88,335,193 (GRCm39)	N26K	probably benign	Het
Adcy3	A	G	12: 4,245,208 (GRCm39)	D382G	probably damaging	Het
Ahi1	T	A	10: 20,876,488 (GRCm39)	C800S	probably benign	Het
Ahnak	G	T	19: 8,992,287 (GRCm39)	V4524L	probably benign	Het
Aoc1l1	C	A	6: 48,952,890 (GRCm39)	R272S	probably benign	Het
Apol11a	C	T	15: 77,397,778 (GRCm39)	A43V	probably benign	Het
Arid1a	T	C	4: 133,421,214 (GRCm39)	M479V	unknown	Het
Atp13a2	T	A	4: 140,724,056 (GRCm39)	C324S	probably damaging	Het
C2cd2	T	G	16: 97,677,486 (GRCm39)	T413P	probably damaging	Het
Cct5	A	C	15: 31,591,107 (GRCm39)	D531E		Het
Chst1	A	T	2: 92,444,523 (GRCm39)	I332F	probably damaging	Het
Col12a1	A	T	9: 79,527,344 (GRCm39)	V2662D	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,160,371 (GRCm39)		probably benign	Het
Dhx9	A	G	1: 153,336,826 (GRCm39)	I807T	probably damaging	Het
Exoc3l4	T	C	12: 111,388,586 (GRCm39)	L25P	probably benign	Het
Ggcx	T	A	6: 72,402,905 (GRCm39)	C288S	probably benign	Het
Gjb3	A	G	4: 127,220,140 (GRCm39)	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,417,574 (GRCm39)	S201P	probably benign	Het
Helz2	A	T	2: 180,881,848 (GRCm39)	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,662,684 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,423 (GRCm39)	Y553*	probably null	Het
Il12a	C	T	3: 68,598,875 (GRCm39)	R19W	unknown	Het
Isoc1	C	T	18: 58,806,347 (GRCm39)	A219V	possibly damaging	Het
Jup	T	A	11: 100,269,124 (GRCm39)	T430S	probably benign	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Map4	A	T	9: 109,855,268 (GRCm39)	Q131L	probably damaging	Het
Mau2	T	A	8: 70,480,165 (GRCm39)	K314M	probably damaging	Het
Mga	A	G	2: 119,794,493 (GRCm39)	M2726V	probably benign	Het
Mgme1	G	A	2: 144,114,405 (GRCm39)		probably null	Het
Msrb2	A	G	2: 19,399,066 (GRCm39)	E143G	probably benign	Het
Muc5b	G	T	7: 141,411,350 (GRCm39)	C1432F	unknown	Het
Naglu	T	C	11: 100,961,940 (GRCm39)	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,109,193 (GRCm39)	Y103H	probably benign	Het
Nodal	A	G	10: 61,259,459 (GRCm39)	N299D	probably damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,448,948 (GRCm39)	S97A	probably benign	Het
Nuak1	A	T	10: 84,210,587 (GRCm39)	S500R	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,736,175 (GRCm39)	E104G	probably benign	Het
Or3a1b	C	T	11: 74,012,526 (GRCm39)	T137I	probably benign	Het
Or52e18	T	A	7: 104,609,204 (GRCm39)	H245L	probably damaging	Het
Palld	T	C	8: 62,330,107 (GRCm39)	T257A	probably benign	Het
Pcnx4	C	T	12: 72,603,043 (GRCm39)	P435L	probably damaging	Het
Piezo1	T	C	8: 123,208,753 (GRCm39)	T2538A	unknown	Het
Plagl1	T	C	10: 13,003,872 (GRCm39)	L380P	unknown	Het
Polrmt	G	T	10: 79,576,415 (GRCm39)	Q514K	probably benign	Het
Psg17	T	G	7: 18,553,851 (GRCm39)	D133A	probably benign	Het
Rab3b	G	A	4: 108,797,903 (GRCm39)	D185N	probably benign	Het
Ranbp2	T	A	10: 58,291,736 (GRCm39)	S248T	probably benign	Het
Rdh10	C	A	1: 16,199,430 (GRCm39)	A212D	probably damaging	Het
Rinl	A	G	7: 28,495,089 (GRCm39)	H154R		Het
Selenbp1	T	C	3: 94,851,414 (GRCm39)	M389T	probably benign	Het
Serpina1c	T	A	12: 103,862,400 (GRCm39)	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,282,746 (GRCm39)	S467T		Het
Sipa1l1	A	G	12: 82,443,335 (GRCm39)	D875G	probably benign	Het
Slc10a6	A	T	5: 103,776,800 (GRCm39)	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Slc20a2	T	C	8: 23,030,447 (GRCm39)	F168L	probably benign	Het
Slc25a1	A	T	16: 17,745,108 (GRCm39)		probably null	Het
Smpdl3a	A	G	10: 57,677,028 (GRCm39)	D42G	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Susd5	G	A	9: 113,925,289 (GRCm39)	G391R	probably damaging	Het
Sync	G	T	4: 129,187,618 (GRCm39)	A217S		Het
Tha1	T	A	11: 117,759,512 (GRCm39)	N326Y	probably damaging	Het
Tjp1	A	T	7: 64,952,564 (GRCm39)	F1590Y	probably benign	Het
Tle4	T	C	19: 14,445,583 (GRCm39)	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024 (GRCm39)	T2054A	probably damaging	Het
Ttll4	A	G	1: 74,718,949 (GRCm39)	K267E	probably benign	Het
Usp32	C	T	11: 84,913,118 (GRCm39)	G930D	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,397 (GRCm39)		probably benign	Het
Zfp459	C	T	13: 67,556,735 (GRCm39)	S116N	probably benign	Het
Zfp981	C	A	4: 146,622,410 (GRCm39)	T445N	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
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
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
R9362:Slc5a12	UTSW	2	110,447,044 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCCATCAAGGGTGCTCTAG -3'
(R):5'- GCTCTTGTTTACCTAAATGCAGAGG -3'

Sequencing Primer
(F):5'- GGAGGACTTCTTACTGGAATCAC -3'
(R):5'- TGCAGAGGAATAGCTATCTTCAG -3'

Posted On

2022-01-20