Mutagenetix > Incidental Mutations

Incidental Mutation 'R0018:Slc13a5'

8360

Institutional Source

Beutler Lab

Gene Symbol

Slc13a5

Ensembl Gene

ENSMUSG00000020805

Gene Name

solute carrier family 13 (sodium-dependent citrate transporter), member 5

Synonyms

Indy, Nact, mINDY, NaC2/NaCT

MMRRC Submission

038313-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72241989-72267222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72266475 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 31 (I31V)

Ref Sequence

ENSEMBL: ENSMUSP00000146762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021161] [ENSMUST00000137701] [ENSMUST00000140167] [ENSMUST00000208056] [ENSMUST00000208912]

Predicted Effect

probably benign
Transcript: ENSMUST00000021161
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: I31V

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	8	558	1.3e-121	PFAM
Pfam:CitMHS	13	172	1.6e-14	PFAM
Pfam:CitMHS	202	498	6.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137701
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: I31V

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	7	115	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140167
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805
AA Change: I31V

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	6	102	7.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207990

Predicted Effect

probably benign
Transcript: ENSMUST00000208056
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208912
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null allele display resistance to diet and age induced obesity, increased energy expenditure, improved glucose tolerance, and increased hepatic lipid oxidation. Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,717,871	I982F	probably damaging	Het
BC024139	G	A	15: 76,120,887	Q592*	probably null	Het
Capn7	T	A	14: 31,354,112	C290*	probably null	Het
Celsr1	T	A	15: 86,031,042	D910V	possibly damaging	Het
Cpne2	T	A	8: 94,556,053	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 26,085,950	R248H	probably benign	Het
Dennd1a	T	A	2: 37,858,460	T336S	possibly damaging	Het
Drc7	A	G	8: 95,074,234	Y628C	probably damaging	Het
Dse	A	G	10: 34,153,468	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843	L780P	possibly damaging	Het
Gsx2	A	G	5: 75,077,167	K260R	probably damaging	Het
Kat6a	A	G	8: 22,929,273	D684G	possibly damaging	Het
Kif27	T	G	13: 58,288,053	I1309L	probably benign	Het
Me2	A	T	18: 73,791,852	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,871,724	T1588S	probably benign	Het
Neu4	T	A	1: 94,025,338	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,371,998	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,001,152		probably benign	Het
Ppfia2	A	G	10: 106,842,786		probably benign	Het
Prkdc	T	C	16: 15,726,542	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,116,692		probably benign	Het
Pus3	A	G	9: 35,566,624	D384G	probably benign	Het
Rasa2	A	G	9: 96,571,963	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,651,078	D142G	probably damaging	Het
Slc15a4	A	T	5: 127,602,010	I422N	probably damaging	Het
Slc26a6	G	T	9: 108,858,922		probably null	Het
Ufm1	A	T	3: 53,859,196	I79N	probably benign	Het
Xdh	C	T	17: 73,925,025	R230H	probably benign	Het
Zfp418	A	T	7: 7,182,450	S471C	probably benign	Het

Other mutations in Slc13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Slc13a5	APN	11	72258954	splice site	probably null
IGL03392:Slc13a5	APN	11	72245178	missense	probably damaging	1.00
Punk	UTSW	11	72262076	missense	probably damaging	1.00
punk2	UTSW	11	72253391	missense	possibly damaging	0.65
R0018:Slc13a5	UTSW	11	72266475	missense	probably benign
R0042:Slc13a5	UTSW	11	72259114	missense	probably benign	0.31
R0194:Slc13a5	UTSW	11	72245233	missense	probably benign	0.22
R0194:Slc13a5	UTSW	11	72262130	missense	possibly damaging	0.95
R0234:Slc13a5	UTSW	11	72250800	missense	probably damaging	0.98
R1499:Slc13a5	UTSW	11	72250731	missense	probably damaging	0.97
R1655:Slc13a5	UTSW	11	72257378	missense	probably benign	0.00
R1728:Slc13a5	UTSW	11	72266459	splice site	probably null
R1818:Slc13a5	UTSW	11	72253343	missense	probably benign	0.02
R2304:Slc13a5	UTSW	11	72259039	missense	probably damaging	1.00
R2352:Slc13a5	UTSW	11	72252321	missense	probably benign	0.06
R2408:Slc13a5	UTSW	11	72262076	missense	probably damaging	1.00
R2919:Slc13a5	UTSW	11	72247791	missense	possibly damaging	0.92
R2920:Slc13a5	UTSW	11	72247791	missense	possibly damaging	0.92
R3103:Slc13a5	UTSW	11	72257388	missense	probably damaging	1.00
R4772:Slc13a5	UTSW	11	72250846	critical splice acceptor site	probably null
R4906:Slc13a5	UTSW	11	72257418	missense	probably damaging	0.99
R5385:Slc13a5	UTSW	11	72259077	missense	probably benign	0.01
R5562:Slc13a5	UTSW	11	72262039	missense	probably damaging	0.99
R5878:Slc13a5	UTSW	11	72253391	missense	possibly damaging	0.65
R6173:Slc13a5	UTSW	11	72253197	missense	probably benign	0.05
R6665:Slc13a5	UTSW	11	72260360	missense	probably damaging	0.99
R7317:Slc13a5	UTSW	11	72245127	missense	probably damaging	1.00
R7338:Slc13a5	UTSW	11	72266484	missense	probably benign
R7908:Slc13a5	UTSW	11	72259064	missense	probably benign	0.00
R8038:Slc13a5	UTSW	11	72253370	missense	probably benign	0.31
R8420:Slc13a5	UTSW	11	72257384	missense	probably damaging	1.00

Posted On

2012-11-27