Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Slc13a5'

569658

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72241989-72267222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72266484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 28 (V28I)

Ref Sequence

ENSEMBL: ENSMUSP00000021161 (fasta)

Gene Model

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

AlphaFold

Q67BT3

Predicted Effect

probably benign
Transcript: ENSMUST00000021161
AA Change: V28I

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

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: V28I

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

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: V28I

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805
AA Change: V28I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208056
AA Change: V28I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208912
AA Change: V28I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Arhgap28	T	C	17: 67,896,111	R166G	probably damaging	Het
Bcan	T	A	3: 87,994,243	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,508,708	N1137S	probably benign	Het
Caprin1	A	G	2: 103,779,423	L170S	probably benign	Het
Card6	C	T	15: 5,099,872	E681K	probably benign	Het
Catsperb	G	A	12: 101,480,984	V248I	probably benign	Het
Ccnj	T	A	19: 40,837,033	H62Q	probably damaging	Het
Cd180	A	C	13: 102,706,428	I661L	probably benign	Het
Cdk11b	A	G	4: 155,647,551	R473G	unknown	Het
Cep126	T	C	9: 8,099,798	T912A	possibly damaging	Het
Chek2	T	A	5: 110,873,514	V530E	probably benign	Het
Chga	G	T	12: 102,562,841	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,054,657	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,842,947	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,307,287	T391S	possibly damaging	Het
Dhx16	T	C	17: 35,888,144	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,674,504	T580A	probably benign	Het
Elmo1	A	T	13: 20,280,812	I184L	probably benign	Het
Gabra1	C	T	11: 42,182,294	G51S	unknown	Het
Gabrr3	C	A	16: 59,448,076	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,538,025	N111I	probably damaging	Het
Gjd2	C	T	2: 114,011,102	R298H	probably damaging	Het
Gm5930	T	C	14: 44,336,457	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238	N511K	probably benign	Het
Hdac7	T	C	15: 97,810,022	D122G	probably benign	Het
Ifi204	G	A	1: 173,760,137	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,463,531		probably null	Het
Med21	T	A	6: 146,642,584		probably benign	Het
Mmp19	A	T	10: 128,799,083	T523S	probably benign	Het
Nav3	G	A	10: 109,769,212	T1000I	probably benign	Het
Nin	T	C	12: 70,044,064	D859G		Het
Nip7	T	G	8: 107,057,284	L52R	possibly damaging	Het
Olfr1039	A	T	2: 86,131,382	F94I	probably damaging	Het
Olfr524	A	T	7: 140,202,533	V79E	probably benign	Het
Olfr934	A	G	9: 38,982,520	Y175H	probably damaging	Het
Otop1	T	A	5: 38,300,203	Y435*	probably null	Het
Pak4	A	G	7: 28,564,956	S174P	probably benign	Het
Pcsk7	G	A	9: 45,925,989	R537Q	probably benign	Het
Podxl	G	A	6: 31,529,006	S34F	unknown	Het
Prr36	G	A	8: 4,216,212	R113C	probably damaging	Het
Ptk7	T	C	17: 46,579,599	I436V	probably benign	Het
Slc9a3r2	T	A	17: 24,650,208		probably benign	Het
Slco6d1	A	T	1: 98,421,372	D56V	probably benign	Het
Spg11	G	A	2: 122,055,377	R2317W	probably damaging	Het
Stom	T	A	2: 35,323,748		probably null	Het
Svs5	T	C	2: 164,332,808	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,621,614	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,459,819	L181P	probably damaging	Het
Tnni3	A	G	7: 4,521,380	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,193,984	I548V	probably benign	Het
Twf2	A	G	9: 106,203,939		probably benign	Het
Wnt5b	C	A	6: 119,448,131		probably null	Het
Wrap73	A	G	4: 154,152,586	D210G	probably benign	Het
Yipf4	T	G	17: 74,489,776	S21A	probably benign	Het
Zscan20	A	G	4: 128,588,150	M573T	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
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
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
R8679:Slc13a5	UTSW	11	72259093	missense	probably benign
R9017:Slc13a5	UTSW	11	72247762	missense	probably damaging	1.00
R9629:Slc13a5	UTSW	11	72247752	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGCAGAGCACCTCCTATCTG -3'
(R):5'- ATCTGCAAACGCCTCACTCTG -3'

Sequencing Primer
(F):5'- ACCTCCTATCTGGTGCCTGGAG -3'
(R):5'- AGTTGTAGCCGCCCCCAATC -3'

Posted On

2019-09-13