Mutagenetix > Incidental Mutations

Incidental Mutation 'R1792:Slc25a13'

201820

Institutional Source

Beutler Lab

Gene Symbol

Slc25a13

Ensembl Gene

ENSMUSG00000015112

Gene Name

solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13

Synonyms

citrin, Ctrn

MMRRC Submission

039822-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6115104 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 207 (A207V)

Ref Sequence

ENSEMBL: ENSMUSP00000139571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015256] [ENSMUST00000188414]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015256
AA Change: A207V

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: A207V

Domain	Start	End	E-Value	Type
EFh	57	85	5.75e1	SMART
EFh	91	119	6.14e-1	SMART
EFh	162	190	7.87e1	SMART
Pfam:Mito_carr	327	424	5.2e-27	PFAM
Pfam:Mito_carr	425	516	1.2e-17	PFAM
Pfam:Mito_carr	517	612	1.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188414
AA Change: A207V

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: A207V

Domain	Start	End	E-Value	Type
EFh	57	85	5.75e1	SMART
EFh	91	119	6.14e-1	SMART
EFh	162	190	7.87e1	SMART
Pfam:Mito_carr	327	424	2.6e-26	PFAM
Pfam:Mito_carr	425	516	4.4e-19	PFAM
Pfam:Mito_carr	517	612	1.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203990

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,184,044	V1398I	probably benign	Het
Ackr3	A	T	1: 90,214,898	N360Y	probably benign	Het
Acr	T	G	15: 89,573,143	M198R	probably benign	Het
Adamts14	A	T	10: 61,218,498	M585K	probably benign	Het
Adgrb3	A	T	1: 25,228,471	C853S	probably damaging	Het
Arhgef28	G	T	13: 97,931,186	S1410R	probably benign	Het
Armc4	T	C	18: 7,286,743	T163A	probably benign	Het
Asprv1	T	A	6: 86,628,372	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,325,294	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802	S1136P	possibly damaging	Het
Ccdc36	A	C	9: 108,404,912	S526A	possibly damaging	Het
Ccdc57	T	C	11: 120,897,881	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,807,340	D142E	probably benign	Het
Cs	A	T	10: 128,360,079	N386Y	possibly damaging	Het
Dsc3	A	T	18: 19,986,998	V201E	probably damaging	Het
Dusp26	G	T	8: 31,091,935	R19L	probably benign	Het
Esyt3	C	A	9: 99,358,116	E92*	probably null	Het
Ext2	T	C	2: 93,704,545	N625D	probably damaging	Het
Fam208b	T	C	13: 3,590,559	K193E	possibly damaging	Het
Flvcr2	A	T	12: 85,747,155	K102*	probably null	Het
Fmnl2	T	A	2: 53,042,317	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,794,290	I451F	probably benign	Het
Gak	A	T	5: 108,585,531	Y47*	probably null	Het
Gbp10	A	T	5: 105,224,300	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,864,929	S135T	unknown	Het
Gm14496	A	T	2: 181,996,153	D340V	probably benign	Het
Grin2a	T	C	16: 9,992,395	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,366,936		probably null	Het
Herc4	T	A	10: 63,245,901	M1K	probably null	Het
Hirip3	T	A	7: 126,862,620	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,832,724	D85G	probably benign	Het
Htt	T	A	5: 34,907,199	S2981T	probably damaging	Het
Il20ra	G	A	10: 19,759,636	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,425,082	C603F	probably damaging	Het
Klhl41	A	C	2: 69,670,802	K202N	probably benign	Het
Lct	G	A	1: 128,327,942	S121F	possibly damaging	Het
Lhx6	C	T	2: 36,087,375	G355D	probably damaging	Het
Limk2	A	G	11: 3,358,236	V121A	probably benign	Het
Med1	T	G	11: 98,157,283	K896Q	probably damaging	Het
Muc6	A	G	7: 141,634,458	F2789S	probably benign	Het
Nemf	T	A	12: 69,312,569	Y997F	probably damaging	Het
Nrap	A	G	19: 56,379,158	S296P	probably benign	Het
Nrxn1	T	C	17: 90,588,824	N961D	probably damaging	Het
Olfr220	T	C	1: 174,448,737	V38A	probably benign	Het
Olfr398	A	C	11: 73,983,847	S254A	probably benign	Het
Olfr777	A	T	10: 129,269,243	F27I	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166	H247L	probably damaging	Het
Pkd1l3	T	A	8: 109,632,605	V866E	probably damaging	Het
Pla2g4e	G	A	2: 120,168,474	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968	V217A	possibly damaging	Het
Pole4	G	A	6: 82,652,739	P34L	unknown	Het
Pole4	G	T	6: 82,652,740	P34T	unknown	Het
Ptchd3	G	A	11: 121,841,551	W422*	probably null	Het
Rab1b	C	T	19: 5,100,485	A167T	probably benign	Het
Rasal1	T	C	5: 120,664,756	M359T	probably benign	Het
Rexo4	T	C	2: 26,960,236	N310D	probably benign	Het
Rgma	C	T	7: 73,417,837	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,145,576	I43N	probably damaging	Het
Rtcb	A	T	10: 85,942,582	V399E	probably damaging	Het
Scd4	T	G	19: 44,337,574	Y122*	probably null	Het
Sirt6	T	C	10: 81,626,521	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,587,959	V104E	possibly damaging	Het
Slc12a4	A	G	8: 105,951,843	I285T	possibly damaging	Het
Slc6a21	T	C	7: 45,280,731	S185P	probably benign	Het
Smarcc2	A	C	10: 128,463,871	N135T	probably damaging	Het
Susd6	T	C	12: 80,874,291	S221P	probably damaging	Het
Syne1	C	T	10: 5,040,975	G8418D	probably damaging	Het
Tbc1d7	C	T	13: 43,165,377	V95I	probably benign	Het
Tcerg1l	T	C	7: 138,361,866	D225G	probably benign	Het
Tfip11	A	T	5: 112,329,397	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,936,981	G192S	probably null	Het
Trrap	G	A	5: 144,853,586	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,765,881		probably null	Het
Wfdc21	T	C	11: 83,747,057	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,168,730	V63E	probably damaging	Het

Other mutations in Slc25a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Slc25a13	APN	6	6042739	critical splice donor site	probably null
IGL02237:Slc25a13	APN	6	6042646	missense	probably damaging	1.00
IGL02285:Slc25a13	APN	6	6042643	missense	possibly damaging	0.95
IGL02287:Slc25a13	APN	6	6216992	splice site	probably benign
IGL02593:Slc25a13	APN	6	6042265	missense	probably benign	0.00
R0028:Slc25a13	UTSW	6	6181047	missense	probably benign	0.10
R0045:Slc25a13	UTSW	6	6109277	missense	probably benign	0.05
R0384:Slc25a13	UTSW	6	6042600	nonsense	probably null
R0711:Slc25a13	UTSW	6	6117128	missense	probably damaging	0.99
R1299:Slc25a13	UTSW	6	6113937	critical splice donor site	probably null
R1625:Slc25a13	UTSW	6	6096675	missense	probably damaging	1.00
R1701:Slc25a13	UTSW	6	6152525	critical splice acceptor site	probably null
R1932:Slc25a13	UTSW	6	6042264	missense	probably benign	0.33
R1933:Slc25a13	UTSW	6	6109262	missense	probably damaging	1.00
R1952:Slc25a13	UTSW	6	6152482	missense	probably damaging	1.00
R1969:Slc25a13	UTSW	6	6096668	critical splice donor site	probably null
R2027:Slc25a13	UTSW	6	6073487	missense	probably damaging	1.00
R2074:Slc25a13	UTSW	6	6114017	missense	probably benign	0.21
R2432:Slc25a13	UTSW	6	6114017	missense	probably benign	0.21
R2508:Slc25a13	UTSW	6	6117190	missense	probably benign	0.06
R3774:Slc25a13	UTSW	6	6109288	missense	probably damaging	1.00
R3775:Slc25a13	UTSW	6	6109288	missense	probably damaging	1.00
R4804:Slc25a13	UTSW	6	6109213	missense	probably damaging	1.00
R4816:Slc25a13	UTSW	6	6114274	missense	possibly damaging	0.71
R4978:Slc25a13	UTSW	6	6042300	missense	probably damaging	0.97
R6529:Slc25a13	UTSW	6	6073451	missense	probably benign	0.39
R6615:Slc25a13	UTSW	6	6073454	missense	probably damaging	1.00
R6709:Slc25a13	UTSW	6	6073440	missense	possibly damaging	0.88
R7346:Slc25a13	UTSW	6	6181100	missense	possibly damaging	0.67
R7571:Slc25a13	UTSW	6	6052785	missense	probably damaging	1.00
R7807:Slc25a13	UTSW	6	6117164	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGCTCCCTAAGACACTTG -3'
(R):5'- ACTCTGTAAATGACTACTGGTCCTG -3'

Sequencing Primer
(F):5'- TGCTCCCTAAGACACTTGAAACAAAC -3'
(R):5'- CCCCTTTAGTTCCAAAACAG -3'

Posted On

2014-06-23