Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03107:Slc13a3'

419021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc13a3

Ensembl Gene

ENSMUSG00000018459

Gene Name

solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3

Synonyms

SDCT2, NaDC3, NaDC-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

165247215-165315117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165279227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 195 (M195L)

Ref Sequence

ENSEMBL: ENSMUSP00000104902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]

AlphaFold

Q91Y63

Predicted Effect

probably benign
Transcript: ENSMUST00000029208
AA Change: M195L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: M195L

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	9	571	2.6e-110	PFAM
Pfam:CitMHS	43	167	1.4e-15	PFAM
Pfam:CitMHS	221	486	5.3e-18	PFAM
low complexity region	578	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109279
AA Change: M195L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: M195L

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	9	270	6.7e-49	PFAM
Pfam:Na_sulph_symp	265	529	1.9e-51	PFAM
low complexity region	536	554	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152284

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,518 (GRCm39)		noncoding transcript	Het
Angpt4	A	G	2: 151,785,342 (GRCm39)	M453V	probably benign	Het
Atr	T	A	9: 95,779,783 (GRCm39)	D1380E	probably benign	Het
Carmil1	A	T	13: 24,278,438 (GRCm39)	M177K	probably damaging	Het
Cenpk	T	A	13: 104,379,280 (GRCm39)	I203N	probably damaging	Het
Cerk	A	T	15: 86,027,014 (GRCm39)	N165K	probably benign	Het
Col27a1	G	A	4: 63,242,869 (GRCm39)		probably benign	Het
Crb2	A	T	2: 37,681,428 (GRCm39)	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,701,376 (GRCm39)	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,474,057 (GRCm39)	W486L	probably damaging	Het
Elmod1	C	T	9: 53,841,507 (GRCm39)		probably benign	Het
Ercc3	G	T	18: 32,381,360 (GRCm39)	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,335,410 (GRCm39)	V595I	probably benign	Het
Fem1al	T	A	11: 29,774,360 (GRCm39)	I366F	probably damaging	Het
Fermt1	A	T	2: 132,775,059 (GRCm39)	S256T	probably damaging	Het
Fstl5	G	T	3: 76,443,618 (GRCm39)	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,002,742 (GRCm39)	N256T	probably benign	Het
Gpd2	T	A	2: 57,245,581 (GRCm39)	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,521,574 (GRCm39)	M43L	probably benign	Het
Itgae	A	G	11: 73,004,427 (GRCm39)	Q238R	probably damaging	Het
Lats1	T	A	10: 7,588,510 (GRCm39)	D1042E	probably benign	Het
Lcn8	G	A	2: 25,545,377 (GRCm39)	G156D	probably damaging	Het
Loxl4	A	C	19: 42,593,718 (GRCm39)	V224G	probably benign	Het
Lrp2	T	A	2: 69,285,177 (GRCm39)	D3827V	probably damaging	Het
Neb	C	A	2: 52,073,837 (GRCm39)	R231S	probably benign	Het
Or2g1	G	A	17: 38,106,679 (GRCm39)	V115I	probably benign	Het
Or5b105	A	T	19: 13,080,401 (GRCm39)	M89K	probably benign	Het
Or6c211	A	G	10: 129,505,809 (GRCm39)	M193T	probably benign	Het
Or6d13	T	G	6: 116,517,900 (GRCm39)	M162R	possibly damaging	Het
Or8g54	T	G	9: 39,707,475 (GRCm39)	M268R	probably benign	Het
Pappa	T	G	4: 65,122,940 (GRCm39)	S758R	probably damaging	Het
Pced1a	G	A	2: 130,264,755 (GRCm39)	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,250,594 (GRCm39)	D731G	probably damaging	Het
Plxnb1	G	A	9: 108,934,054 (GRCm39)	D761N	probably benign	Het
Pmp22	T	C	11: 63,049,135 (GRCm39)	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,152,748 (GRCm39)	R296S	probably damaging	Het
Prkcq	A	C	2: 11,265,597 (GRCm39)	H438P	probably damaging	Het
Ryr1	T	A	7: 28,774,624 (GRCm39)	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,765,686 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,955,312 (GRCm39)	I144F	probably benign	Het
Secisbp2	T	C	13: 51,806,793 (GRCm39)		probably null	Het
Sema5a	T	A	15: 32,669,554 (GRCm39)	Y693N	probably damaging	Het
Sin3b	T	A	8: 73,480,213 (GRCm39)	I905K	probably damaging	Het
Strada	A	G	11: 106,054,863 (GRCm39)		probably benign	Het
Stx18	G	A	5: 38,293,655 (GRCm39)	V294M	probably damaging	Het
Tbpl2	A	T	2: 23,983,845 (GRCm39)	N197K	probably benign	Het
Tdrd9	A	T	12: 112,009,274 (GRCm39)	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,396,223 (GRCm39)	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,004,705 (GRCm39)	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,024,528 (GRCm39)	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,031,820 (GRCm39)	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,275,633 (GRCm39)		probably benign	Het
Unc80	C	A	1: 66,670,613 (GRCm39)	P1912Q	probably damaging	Het

Other mutations in Slc13a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Slc13a3	APN	2	165,253,843 (GRCm39)	missense	probably damaging	1.00
IGL00326:Slc13a3	APN	2	165,315,017 (GRCm39)	missense	possibly damaging	0.89
IGL01308:Slc13a3	APN	2	165,248,700 (GRCm39)	missense	probably damaging	0.99
IGL01668:Slc13a3	APN	2	165,272,212 (GRCm39)	missense	probably damaging	1.00
IGL02435:Slc13a3	APN	2	165,250,860 (GRCm39)	missense	possibly damaging	0.95
IGL02551:Slc13a3	APN	2	165,266,493 (GRCm39)	missense	probably damaging	1.00
IGL02716:Slc13a3	APN	2	165,248,635 (GRCm39)	missense	unknown
R0114:Slc13a3	UTSW	2	165,266,501 (GRCm39)	missense	probably damaging	1.00
R0624:Slc13a3	UTSW	2	165,253,807 (GRCm39)	missense	probably damaging	1.00
R1051:Slc13a3	UTSW	2	165,250,740 (GRCm39)	critical splice donor site	probably null
R1780:Slc13a3	UTSW	2	165,248,619 (GRCm39)	missense	unknown
R1782:Slc13a3	UTSW	2	165,287,439 (GRCm39)	missense	probably benign	0.01
R1994:Slc13a3	UTSW	2	165,275,984 (GRCm39)	missense	possibly damaging	0.90
R4739:Slc13a3	UTSW	2	165,272,209 (GRCm39)	missense	possibly damaging	0.91
R4971:Slc13a3	UTSW	2	165,290,619 (GRCm39)	missense	probably damaging	0.99
R5091:Slc13a3	UTSW	2	165,262,000 (GRCm39)	missense	probably benign	0.11
R5093:Slc13a3	UTSW	2	165,253,816 (GRCm39)	missense	probably damaging	1.00
R5826:Slc13a3	UTSW	2	165,250,876 (GRCm39)	missense	probably benign	0.05
R5894:Slc13a3	UTSW	2	165,266,543 (GRCm39)	missense	probably benign	0.00
R6239:Slc13a3	UTSW	2	165,248,617 (GRCm39)	missense	unknown
R6394:Slc13a3	UTSW	2	165,276,017 (GRCm39)	missense	probably damaging	1.00
R6453:Slc13a3	UTSW	2	165,253,867 (GRCm39)	missense	possibly damaging	0.94
R6463:Slc13a3	UTSW	2	165,287,573 (GRCm39)	missense	probably damaging	1.00
R6480:Slc13a3	UTSW	2	165,250,818 (GRCm39)	missense	probably damaging	1.00
R6525:Slc13a3	UTSW	2	165,248,667 (GRCm39)	missense	unknown
R6879:Slc13a3	UTSW	2	165,272,221 (GRCm39)	missense	probably damaging	1.00
R7278:Slc13a3	UTSW	2	165,287,448 (GRCm39)	missense	possibly damaging	0.87
R7340:Slc13a3	UTSW	2	165,272,210 (GRCm39)	missense	probably benign	0.00
R7404:Slc13a3	UTSW	2	165,275,984 (GRCm39)	missense	possibly damaging	0.90
R7452:Slc13a3	UTSW	2	165,269,034 (GRCm39)	missense	probably benign	0.03
R7585:Slc13a3	UTSW	2	165,272,242 (GRCm39)	missense	probably benign	0.00
R7966:Slc13a3	UTSW	2	165,272,155 (GRCm39)	missense	probably benign	0.08
R8206:Slc13a3	UTSW	2	165,248,745 (GRCm39)	missense	probably damaging	1.00
R8481:Slc13a3	UTSW	2	165,275,958 (GRCm39)	missense	probably damaging	0.99
R8504:Slc13a3	UTSW	2	165,275,999 (GRCm39)	missense	probably damaging	0.99
R9488:Slc13a3	UTSW	2	165,250,851 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02