Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Slc13a3'

197423

Institutional Source

Beutler Lab

Gene Symbol

Slc13a3

Ensembl Gene

ENSMUSG00000018459

Gene Name

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

Synonyms

SDCT2, NaDC3, NaDC-3

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165247215-165315117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165248619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 553 (N553S)

Ref Sequence

ENSEMBL: ENSMUSP00000104902 (fasta)

Gene Model

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

AlphaFold

Q91Y63

Predicted Effect

unknown
Transcript: ENSMUST00000029208
AA Change: N595S

SMART Domains

Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: N595S

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

unknown
Transcript: ENSMUST00000109279
AA Change: N553S

SMART Domains

Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: N553S

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: ENSMUST00000145513

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	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
IGL03107:Slc13a3	APN	2	165,279,227 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGTGGACTTTCCTGCACCCTG -3'
(R):5'- GGGAAACATCTGTGGCCTACACTTG -3'

Sequencing Primer
(F):5'- AGCTTGTTCTACAGGCCACAG -3'
(R):5'- TAGGCTGAGCCTGCAACTTC -3'

Posted On

2014-05-23