Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Slc25a13'

215552

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

039951-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6109262 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 367 (V367M)

Ref Sequence

ENSEMBL: ENSMUSP00000139571 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000015256
AA Change: V367M

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

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: V367M

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

probably damaging
Transcript: ENSMUST00000188414
AA Change: V367M

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

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: V367M

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	Het
Zfp451	T	C	1: 33,777,822	K132R	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
R1792:Slc25a13	UTSW	6	6115104	missense	possibly damaging	0.79
R1932:Slc25a13	UTSW	6	6042264	missense	probably benign	0.33
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
R7852:Slc25a13	UTSW	6	6152461	missense	probably damaging	0.96
R8460:Slc25a13	UTSW	6	6073513	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTTCAGGCTCTGAGATGGG -3'
(R):5'- CAAAGGTAGTTTGGTAGATCTATGC -3'

Sequencing Primer
(F):5'- GGGAAAGCAAACCCTTGGCTC -3'
(R):5'- AAAATACTTCTGCCGGGCGTG -3'

Posted On

2014-07-14