Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Slc13a5'

563480

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

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72132815-72158048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72135953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 529 (M529K)

Ref Sequence

ENSEMBL: ENSMUSP00000021161 (fasta)

Gene Model

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

AlphaFold

Q67BT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021161
AA Change: M529K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: M529K

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

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 damaging
Transcript: ENSMUST00000208056
AA Change: M512K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208912
AA Change: M486K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	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
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'- CTCGTGCTTGCATGACTGTG -3'
(R):5'- ACTATGAGTCGCAATGTCGTGTG -3'

Sequencing Primer
(F):5'- AGCTCTATTGACTGGCCAAG -3'
(R):5'- CAATGTCGTGTGTCTTCTCTAGGC -3'

Posted On

2019-06-26