Mutagenetix > Incidental Mutation

Incidental Mutation 'R6394:Slc13a3'

515920

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

044543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165247215-165315117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165276017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 243 (G243E)

Ref Sequence

ENSEMBL: ENSMUSP00000104902 (fasta)

Gene Model

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

AlphaFold

Q91Y63

Predicted Effect

probably damaging
Transcript: ENSMUST00000029208
AA Change: G243E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: G243E

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 damaging
Transcript: ENSMUST00000109279
AA Change: G243E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: G243E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,760,029 (GRCm39)		probably null	Het
Alpi	T	A	1: 87,028,428 (GRCm39)	Y154F	possibly damaging	Het
Als2	A	T	1: 59,206,356 (GRCm39)	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,361,213 (GRCm39)	V60M	probably damaging	Het
Atp10b	A	G	11: 43,116,464 (GRCm39)	Y937C	probably damaging	Het
Brd4	C	A	17: 32,443,121 (GRCm39)	E167*	probably null	Het
Cacna1h	G	A	17: 25,606,455 (GRCm39)	T1048I	probably benign	Het
Ccdc113	A	G	8: 96,283,820 (GRCm39)	D298G	probably benign	Het
Cfap100	T	A	6: 90,394,605 (GRCm39)	N74I	possibly damaging	Het
Chd8	A	T	14: 52,440,042 (GRCm39)	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,284,524 (GRCm39)	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,290,172 (GRCm39)	T843A	possibly damaging	Het
Clcn3	C	T	8: 61,394,325 (GRCm39)	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,007,132 (GRCm39)	N355K	probably benign	Het
Dnah6	A	T	6: 73,132,401 (GRCm39)	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331 (GRCm39)	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,819,839 (GRCm39)	E317G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evc2	C	A	5: 37,535,619 (GRCm39)	D431E	probably damaging	Het
Gcm2	T	G	13: 41,263,373 (GRCm39)	T20P	probably damaging	Het
Gdf9	A	G	11: 53,327,524 (GRCm39)	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,523,134 (GRCm39)		probably benign	Het
Gpalpp1	A	T	14: 76,344,852 (GRCm39)	S44T	possibly damaging	Het
Grip2	T	C	6: 91,764,182 (GRCm39)	Y134C	probably damaging	Het
Hephl1	A	G	9: 14,985,397 (GRCm39)	F753S	probably benign	Het
Herc1	A	G	9: 66,302,341 (GRCm39)	T727A	probably damaging	Het
Herc2	A	G	7: 55,865,729 (GRCm39)	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Itga11	T	A	9: 62,642,548 (GRCm39)		probably null	Het
Jrkl	A	C	9: 13,245,495 (GRCm39)	Y55*	probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,805,236 (GRCm39)	V303A	probably damaging	Het
Klhl29	A	T	12: 5,144,830 (GRCm39)	C423*	probably null	Het
Klhl29	T	C	12: 5,187,720 (GRCm39)	S215G	probably benign	Het
Lamp5	A	G	2: 135,902,929 (GRCm39)	D216G	possibly damaging	Het
Leo1	T	A	9: 75,352,752 (GRCm39)	D98E	probably benign	Het
Map3k3	T	C	11: 106,039,709 (GRCm39)	V283A	probably benign	Het
Med12l	A	G	3: 59,142,508 (GRCm39)	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316 (GRCm39)	D202Y	probably benign	Het
Muc21	A	T	17: 35,931,058 (GRCm39)		probably benign	Het
Onecut3	A	G	10: 80,331,847 (GRCm39)	I336V	probably damaging	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or10g9	T	C	9: 39,912,001 (GRCm39)	Q174R	probably benign	Het
Or10h1	G	A	17: 33,418,487 (GRCm39)	G155D	probably damaging	Het
Or4c11b	C	T	2: 88,625,296 (GRCm39)	T190I	probably benign	Het
Or56b1	T	A	7: 104,284,909 (GRCm39)	N9K	possibly damaging	Het
Or56b1	T	C	7: 104,285,234 (GRCm39)	S118P	possibly damaging	Het
Or5p64	C	T	7: 107,854,970 (GRCm39)	R125H	possibly damaging	Het
Or6c69	G	T	10: 129,747,789 (GRCm39)	D119E	probably damaging	Het
Osbpl6	T	C	2: 76,386,298 (GRCm39)	V207A	probably benign	Het
Pde3a	A	T	6: 141,433,237 (GRCm39)	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phyh	A	G	2: 4,940,814 (GRCm39)	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,750,030 (GRCm39)	N92K	probably benign	Het
Pole3	T	C	4: 62,442,263 (GRCm39)		probably benign	Het
Ppm1d	T	C	11: 85,230,498 (GRCm39)	V372A	probably benign	Het
Prpf40a	A	T	2: 53,034,890 (GRCm39)	I766N	probably damaging	Het
Prr5	T	A	15: 84,583,925 (GRCm39)	V175E	probably damaging	Het
Prss59	A	T	6: 40,898,726 (GRCm39)	L174*	probably null	Het
Ptprq	T	A	10: 107,478,804 (GRCm39)	K1280*	probably null	Het
Rbp2	T	A	9: 98,389,873 (GRCm39)	V95E	possibly damaging	Het
Rictor	T	C	15: 6,798,790 (GRCm39)	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn10a	T	A	9: 119,490,386 (GRCm39)	I519F	probably benign	Het
Setd5	T	G	6: 113,092,505 (GRCm39)	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,786,176 (GRCm39)	M642K	probably damaging	Het
Smg9	T	C	7: 24,121,732 (GRCm39)	Y498H	probably damaging	Het
Sox5	T	C	6: 143,987,039 (GRCm39)	D175G	probably damaging	Het
Stard7	A	G	2: 127,126,161 (GRCm39)	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,774,975 (GRCm39)	Y59*	probably null	Het
Supt6	G	A	11: 78,121,891 (GRCm39)	R254C	probably damaging	Het
Syne2	C	T	12: 76,037,269 (GRCm39)	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,732,039 (GRCm39)	I116N	probably damaging	Het
Trim9	T	A	12: 70,301,987 (GRCm39)	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 9,774,253 (GRCm39)	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,687,943 (GRCm39)	E126*	probably null	Het
Zswim9	A	T	7: 12,994,889 (GRCm39)	S422R	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
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
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'- TGCCCCATGTGTAGCATACG -3'
(R):5'- CCCATGCCAGGTTTGAGTCTAG -3'

Sequencing Primer
(F):5'- ACTTTACTGTCTAAGGCAGGACC -3'
(R):5'- CCAGGTTTGAGTCTAGGAAAAATCC -3'

Posted On

2018-05-04