Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Slc13a5'

23318

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

038453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72132815-72158048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72152956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 42 (I42L)

Ref Sequence

ENSEMBL: ENSMUSP00000021161 (fasta)

Gene Model

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

AlphaFold

Q67BT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021161
AA Change: I42L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: I42L

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
AA Change: I42L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: I42L

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: ENSMUST00000147937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207990

Predicted Effect

probably benign
Transcript: ENSMUST00000208056
AA Change: I42L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208912

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		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	72,136,059 (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
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'- TGGTCCCCACAAAGAGCAGCATTC -3'
(R):5'- TTGGCTGTCCTGAGCCTTGGAAAG -3'

Sequencing Primer
(F):5'- TCAGGGCAACCCTCTTATGAAG -3'
(R):5'- TGAGCCTTGGAAAGCCACC -3'

Posted On

2013-04-16