Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Slc13a5'

189045

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

039691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72241989-72267222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72257378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 277 (C277F)

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: C277F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: C277F

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: C277F

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: C277F

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

noncoding transcript
Transcript: ENSMUST00000207990

Predicted Effect

probably benign
Transcript: ENSMUST00000208056
AA Change: C260F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208912
AA Change: C234F

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621 (GRCm38)	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110 (GRCm38)	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333 (GRCm38)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm38)	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108 (GRCm38)	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397 (GRCm38)	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520 (GRCm38)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867 (GRCm38)	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427 (GRCm38)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776 (GRCm38)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689 (GRCm38)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340 (GRCm38)	T19K	unknown	Het
Disp1	A	T	1: 183,087,004 (GRCm38)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854 (GRCm38)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732 (GRCm38)	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576 (GRCm38)	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198 (GRCm38)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866 (GRCm38)		probably null	Het
Ermn	C	T	2: 58,052,584 (GRCm38)	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318 (GRCm38)	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851 (GRCm38)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692 (GRCm38)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176 (GRCm38)	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043 (GRCm38)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905 (GRCm38)	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147 (GRCm38)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333 (GRCm38)	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660 (GRCm38)	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163 (GRCm38)	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148 (GRCm38)	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211 (GRCm38)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824 (GRCm38)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563 (GRCm38)	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455 (GRCm38)	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228 (GRCm38)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872 (GRCm38)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245 (GRCm38)		probably null	Het
Nlrp4a	A	T	7: 26,449,651 (GRCm38)	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080 (GRCm38)	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999 (GRCm38)	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939 (GRCm38)	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464 (GRCm38)	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316 (GRCm38)	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768 (GRCm38)	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822 (GRCm38)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129 (GRCm38)	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922 (GRCm38)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800 (GRCm38)	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236 (GRCm38)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534 (GRCm38)	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596 (GRCm38)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895 (GRCm38)	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212 (GRCm38)	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944 (GRCm38)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782 (GRCm38)	D427G	probably benign	Het
Scai	A	T	2: 39,080,117 (GRCm38)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212 (GRCm38)	V323A	probably damaging	Het
Slc15a1	A	T	14: 121,465,899 (GRCm38)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419 (GRCm38)	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135 (GRCm38)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Supt5	T	C	7: 28,330,024 (GRCm38)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216 (GRCm38)	Y346*	probably null	Het
Tg	T	G	15: 66,828,568 (GRCm38)		probably null	Het
Top1	T	A	2: 160,703,696 (GRCm38)		probably null	Het
Trmt12	T	C	15: 58,873,227 (GRCm38)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695 (GRCm38)	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756 (GRCm38)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051 (GRCm38)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm38)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266 (GRCm38)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554 (GRCm38)	V709A	possibly damaging	Het

Other mutations in Slc13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Slc13a5	APN	11	72,258,954 (GRCm38)	splice site	probably null
IGL03392:Slc13a5	APN	11	72,245,178 (GRCm38)	missense	probably damaging	1.00
Punk	UTSW	11	72,262,076 (GRCm38)	missense	probably damaging	1.00
punk2	UTSW	11	72,253,391 (GRCm38)	missense	possibly damaging	0.65
R0018:Slc13a5	UTSW	11	72,266,475 (GRCm38)	missense	probably benign
R0018:Slc13a5	UTSW	11	72,266,475 (GRCm38)	missense	probably benign
R0042:Slc13a5	UTSW	11	72,259,114 (GRCm38)	missense	probably benign	0.31
R0194:Slc13a5	UTSW	11	72,262,130 (GRCm38)	missense	possibly damaging	0.95
R0194:Slc13a5	UTSW	11	72,245,233 (GRCm38)	missense	probably benign	0.22
R0234:Slc13a5	UTSW	11	72,250,800 (GRCm38)	missense	probably damaging	0.98
R1499:Slc13a5	UTSW	11	72,250,731 (GRCm38)	missense	probably damaging	0.97
R1728:Slc13a5	UTSW	11	72,266,459 (GRCm38)	splice site	probably null
R1818:Slc13a5	UTSW	11	72,253,343 (GRCm38)	missense	probably benign	0.02
R2304:Slc13a5	UTSW	11	72,259,039 (GRCm38)	missense	probably damaging	1.00
R2352:Slc13a5	UTSW	11	72,252,321 (GRCm38)	missense	probably benign	0.06
R2408:Slc13a5	UTSW	11	72,262,076 (GRCm38)	missense	probably damaging	1.00
R2919:Slc13a5	UTSW	11	72,247,791 (GRCm38)	missense	possibly damaging	0.92
R2920:Slc13a5	UTSW	11	72,247,791 (GRCm38)	missense	possibly damaging	0.92
R3103:Slc13a5	UTSW	11	72,257,388 (GRCm38)	missense	probably damaging	1.00
R4772:Slc13a5	UTSW	11	72,250,846 (GRCm38)	critical splice acceptor site	probably null
R4906:Slc13a5	UTSW	11	72,257,418 (GRCm38)	missense	probably damaging	0.99
R5385:Slc13a5	UTSW	11	72,259,077 (GRCm38)	missense	probably benign	0.01
R5562:Slc13a5	UTSW	11	72,262,039 (GRCm38)	missense	probably damaging	0.99
R5878:Slc13a5	UTSW	11	72,253,391 (GRCm38)	missense	possibly damaging	0.65
R6173:Slc13a5	UTSW	11	72,253,197 (GRCm38)	missense	probably benign	0.05
R6665:Slc13a5	UTSW	11	72,260,360 (GRCm38)	missense	probably damaging	0.99
R7317:Slc13a5	UTSW	11	72,245,127 (GRCm38)	missense	probably damaging	1.00
R7338:Slc13a5	UTSW	11	72,266,484 (GRCm38)	missense	probably benign
R7908:Slc13a5	UTSW	11	72,259,064 (GRCm38)	missense	probably benign	0.00
R8038:Slc13a5	UTSW	11	72,253,370 (GRCm38)	missense	probably benign	0.31
R8420:Slc13a5	UTSW	11	72,257,384 (GRCm38)	missense	probably damaging	1.00
R8679:Slc13a5	UTSW	11	72,259,093 (GRCm38)	missense	probably benign
R9017:Slc13a5	UTSW	11	72,247,762 (GRCm38)	missense	probably damaging	1.00
R9629:Slc13a5	UTSW	11	72,247,752 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATCAGGGCTGGGACAATACACAC -3'
(R):5'- GCAGGGTCTCTATTCACAGAAACGC -3'

Sequencing Primer
(F):5'- AGTAAGCCTCCAGCCATTGTG -3'
(R):5'- TCAAGAGTTCACCTGCCTGG -3'

Posted On

2014-05-09