Mutagenetix > Incidental Mutation

Incidental Mutation 'R7908:Slc13a5'

610298

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 #

R7908 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72132815-72158048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72149890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 207 (M207V)

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: M207V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: M207V

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

unknown
Transcript: ENSMUST00000137701
AA Change: M207V

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: M207V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140167

SMART Domains

Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208056
AA Change: M190V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208912
AA Change: M164V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,577 (GRCm39)	F69L	probably benign	Het
Acsf3	A	G	8: 123,512,562 (GRCm39)	M328V	probably damaging	Het
Adam10	T	G	9: 70,669,046 (GRCm39)	V454G	possibly damaging	Het
Adamts15	T	C	9: 30,813,522 (GRCm39)	D881G	probably benign	Het
Adamtsl1	T	C	4: 86,274,676 (GRCm39)	V1244A	probably benign	Het
Ankfn1	G	A	11: 89,296,360 (GRCm39)	P123L	probably damaging	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atg14	T	A	14: 47,806,050 (GRCm39)		probably benign	Het
Bmal1	A	T	7: 112,912,680 (GRCm39)	I579L	probably benign	Het
Btnl4	A	G	17: 34,692,161 (GRCm39)	M147T	possibly damaging	Het
Camk1g	T	C	1: 193,042,082 (GRCm39)	K56E	probably damaging	Het
Capn7	T	C	14: 31,088,202 (GRCm39)		probably null	Het
Cbln1	T	A	8: 88,198,724 (GRCm39)	T49S	probably benign	Het
Cc2d2a	T	C	5: 43,864,188 (GRCm39)	V763A	probably benign	Het
Cdc40	A	G	10: 40,724,042 (GRCm39)	Y249H	probably damaging	Het
Cfap61	T	A	2: 145,944,019 (GRCm39)	L762H	probably damaging	Het
Cfap68	T	A	9: 50,675,248 (GRCm39)	T153S	possibly damaging	Het
Cfap73	T	C	5: 120,768,123 (GRCm39)	T212A	probably benign	Het
Cfi	A	G	3: 129,642,233 (GRCm39)	E29G	probably benign	Het
Chmp6	A	T	11: 119,804,656 (GRCm39)		probably benign	Het
Clec14a	T	C	12: 58,314,465 (GRCm39)	T386A	possibly damaging	Het
Coq6	T	A	12: 84,417,940 (GRCm39)	L268H	probably damaging	Het
Cpt1a	T	C	19: 3,412,202 (GRCm39)	S225P	probably benign	Het
Dhx58	C	A	11: 100,586,130 (GRCm39)	L630F	probably damaging	Het
Dlg2	T	A	7: 91,549,981 (GRCm39)	V158E	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,921 (GRCm39)	Y1168F	probably benign	Het
Foxd3	A	G	4: 99,545,576 (GRCm39)	T239A	probably benign	Het
Galnt6	T	C	15: 100,601,242 (GRCm39)	T346A	probably damaging	Het
Guca1b	C	G	17: 47,702,102 (GRCm39)	T185S	unknown	Het
H2-M5	T	C	17: 37,298,571 (GRCm39)	T292A	probably benign	Het
Hlx	T	C	1: 184,459,773 (GRCm39)	H455R	probably benign	Het
Hydin	A	G	8: 111,237,499 (GRCm39)	Y1924C	probably benign	Het
Ighg2b	C	T	12: 113,270,074 (GRCm39)	V315M		Het
Ildr2	A	G	1: 166,135,369 (GRCm39)	K374E	probably damaging	Het
Jmjd1c	T	C	10: 67,061,621 (GRCm39)	S1144P	probably benign	Het
Kcnj8	T	C	6: 142,511,755 (GRCm39)	D284G	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Lingo4	A	G	3: 94,309,541 (GRCm39)	T160A	probably benign	Het
Lmod3	G	T	6: 97,225,434 (GRCm39)	A129E	probably benign	Het
Lrrk2	T	C	15: 91,610,355 (GRCm39)	C696R	probably damaging	Het
Mc2r	A	G	18: 68,541,036 (GRCm39)	F86L	probably benign	Het
Mppe1	T	G	18: 67,362,055 (GRCm39)	K170T	probably benign	Het
Mtcl1	A	G	17: 66,678,325 (GRCm39)	I667T	possibly damaging	Het
Mtnr1a	A	T	8: 45,540,863 (GRCm39)	I275F	probably benign	Het
Myh2	A	G	11: 67,088,197 (GRCm39)	I1938V	probably benign	Het
Npsr1	A	T	9: 24,201,096 (GRCm39)	E160V	probably damaging	Het
Or13c7b	T	A	4: 43,821,086 (GRCm39)	I92F	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or6c3	T	A	10: 129,308,867 (GRCm39)	I102N	probably damaging	Het
Ovch2	T	A	7: 107,388,326 (GRCm39)	Y418F	probably damaging	Het
Pak5	A	G	2: 135,958,479 (GRCm39)	L203S	probably benign	Het
Pcdh15	A	T	10: 74,479,414 (GRCm39)	E508D	probably benign	Het
Prl7a1	T	C	13: 27,826,433 (GRCm39)	M1V	probably null	Het
Prorp	A	T	12: 55,426,250 (GRCm39)	K533N	possibly damaging	Het
Prpsap2	G	T	11: 61,647,098 (GRCm39)	N14K	possibly damaging	Het
Rad54b	T	A	4: 11,595,868 (GRCm39)	V215E	probably null	Het
Ryr2	G	A	13: 11,807,634 (GRCm39)	T845I	probably benign	Het
Scgb2b3	G	A	7: 31,061,439 (GRCm39)	T20I	probably damaging	Het
Serpina1b	T	C	12: 103,694,566 (GRCm39)	I393V	possibly damaging	Het
Slc49a3	T	C	5: 108,592,363 (GRCm39)	I276V	probably benign	Het
Smg1	A	T	7: 117,785,357 (GRCm39)	L843M	unknown	Het
Sp100	T	C	1: 85,635,788 (GRCm39)	V531A	possibly damaging	Het
Srsf6	T	C	2: 162,775,760 (GRCm39)	S190P	unknown	Het
Stil	A	G	4: 114,889,896 (GRCm39)	K795E	possibly damaging	Het
Sugp2	A	G	8: 70,704,577 (GRCm39)	R705G	probably benign	Het
Tnfrsf11a	T	A	1: 105,737,099 (GRCm39)	C69S	probably damaging	Het
Trim30a	A	T	7: 104,070,656 (GRCm39)	N252K	probably benign	Het
Tshz1	T	A	18: 84,032,732 (GRCm39)	K559*	probably null	Het
Ttbk1	C	T	17: 46,789,864 (GRCm39)	R133H	probably damaging	Het
Vmn1r1	T	C	1: 181,984,915 (GRCm39)	Y250C	probably benign	Het
Vmn2r12	A	G	5: 109,234,307 (GRCm39)	L635P	probably damaging	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vwa5b1	A	T	4: 138,296,481 (GRCm39)	L1182*	probably null	Het
Washc2	A	G	6: 116,225,106 (GRCm39)	D818G	probably benign	Het
Xylb	T	G	9: 119,210,611 (GRCm39)	S365A	probably benign	Het
Zcchc8	T	C	5: 123,858,783 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,345,986 (GRCm39)	I1455T	possibly 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
R4772:Slc13a5	UTSW	11	72,141,672 (GRCm39)	critical splice acceptor site	probably null
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
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'- CATCCTAGACTGATGGCTCCAG -3'
(R):5'- AGAACACATGTGCACCTGGC -3'

Sequencing Primer
(F):5'- TCCAGGCCAAGACAGGG -3'
(R):5'- CCTGGCAAGGGGTACGC -3'

Posted On

2019-12-20