Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Slc13a5'

367626

Institutional Source

Beutler Lab

Gene Symbol

Slc13a5

Ensembl Gene

ENSMUSG00000020805

Gene Name

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

Synonyms

Nact, Indy, NaC2/NaCT, mINDY

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4772 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

72132815-72158048 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 72141672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146762 (fasta)

Gene Model

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

AlphaFold

Q67BT3

Predicted Effect

probably null
Transcript: ENSMUST00000021161

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805

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 null
Transcript: ENSMUST00000021161

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805

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 null
Transcript: ENSMUST00000137701

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805

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

Predicted Effect

probably null
Transcript: ENSMUST00000137701

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805

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

Predicted Effect

probably null
Transcript: ENSMUST00000137701

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805

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

Predicted Effect

probably null
Transcript: ENSMUST00000137701

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805

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

Predicted Effect

probably null
Transcript: ENSMUST00000208056

Predicted Effect

probably null
Transcript: ENSMUST00000208056

Predicted Effect

probably null
Transcript: ENSMUST00000208056

Predicted Effect

probably null
Transcript: ENSMUST00000208056

Predicted Effect

probably null
Transcript: ENSMUST00000208912

Predicted Effect

probably null
Transcript: ENSMUST00000208912

Predicted Effect

probably null
Transcript: ENSMUST00000208912

Predicted Effect

probably null
Transcript: ENSMUST00000208912

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	Het

Other mutations in Slc13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Slc13a5	APN	11	72,149,780 (GRCm39)	splice site	probably null
IGL03392:Slc13a5	APN	11	72,136,004 (GRCm39)	missense	probably damaging	1.00
Punk	UTSW	11	72,152,902 (GRCm39)	missense	probably damaging	1.00
punk2	UTSW	11	72,144,217 (GRCm39)	missense	possibly damaging	0.65
R0018:Slc13a5	UTSW	11	72,157,301 (GRCm39)	missense	probably benign
R0018:Slc13a5	UTSW	11	72,157,301 (GRCm39)	missense	probably benign
R0042:Slc13a5	UTSW	11	72,149,940 (GRCm39)	missense	probably benign	0.31
R0194:Slc13a5	UTSW	11	72,152,956 (GRCm39)	missense	possibly damaging	0.95
R0194:Slc13a5	UTSW	11	72,136,059 (GRCm39)	missense	probably benign	0.22
R0234:Slc13a5	UTSW	11	72,141,626 (GRCm39)	missense	probably damaging	0.98
R1499:Slc13a5	UTSW	11	72,141,557 (GRCm39)	missense	probably damaging	0.97
R1655:Slc13a5	UTSW	11	72,148,204 (GRCm39)	missense	probably benign	0.00
R1728:Slc13a5	UTSW	11	72,157,285 (GRCm39)	splice site	probably null
R1818:Slc13a5	UTSW	11	72,144,169 (GRCm39)	missense	probably benign	0.02
R2304:Slc13a5	UTSW	11	72,149,865 (GRCm39)	missense	probably damaging	1.00
R2352:Slc13a5	UTSW	11	72,143,147 (GRCm39)	missense	probably benign	0.06
R2408:Slc13a5	UTSW	11	72,152,902 (GRCm39)	missense	probably damaging	1.00
R2919:Slc13a5	UTSW	11	72,138,617 (GRCm39)	missense	possibly damaging	0.92
R2920:Slc13a5	UTSW	11	72,138,617 (GRCm39)	missense	possibly damaging	0.92
R3103:Slc13a5	UTSW	11	72,148,214 (GRCm39)	missense	probably damaging	1.00
R4906:Slc13a5	UTSW	11	72,148,244 (GRCm39)	missense	probably damaging	0.99
R5385:Slc13a5	UTSW	11	72,149,903 (GRCm39)	missense	probably benign	0.01
R5562:Slc13a5	UTSW	11	72,152,865 (GRCm39)	missense	probably damaging	0.99
R5878:Slc13a5	UTSW	11	72,144,217 (GRCm39)	missense	possibly damaging	0.65
R6173:Slc13a5	UTSW	11	72,144,023 (GRCm39)	missense	probably benign	0.05
R6665:Slc13a5	UTSW	11	72,151,186 (GRCm39)	missense	probably damaging	0.99
R7317:Slc13a5	UTSW	11	72,135,953 (GRCm39)	missense	probably damaging	1.00
R7338:Slc13a5	UTSW	11	72,157,310 (GRCm39)	missense	probably benign
R7908:Slc13a5	UTSW	11	72,149,890 (GRCm39)	missense	probably benign	0.00
R8038:Slc13a5	UTSW	11	72,144,196 (GRCm39)	missense	probably benign	0.31
R8420:Slc13a5	UTSW	11	72,148,210 (GRCm39)	missense	probably damaging	1.00
R8679:Slc13a5	UTSW	11	72,149,919 (GRCm39)	missense	probably benign
R9017:Slc13a5	UTSW	11	72,138,588 (GRCm39)	missense	probably damaging	1.00
R9629:Slc13a5	UTSW	11	72,138,578 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACACCCAGGGATGGAATG -3'
(R):5'- AGGTGGTTTTAACTTCCAATGTCC -3'

Sequencing Primer
(F):5'- CCAGGGATGGAATGGGGGTTG -3'
(R):5'- GTCCTCCCTCTGTGAAGCATATAATC -3'

Posted On

2015-12-29