Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Slc25a13'

32755

Institutional Source

Beutler Lab

Gene Symbol

Slc25a13

Ensembl Gene

ENSMUSG00000015112

Gene Name

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

Synonyms

Ctrn, citrin

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R0045 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6109277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 362 (S362T)

Ref Sequence

ENSEMBL: ENSMUSP00000139571 (fasta)

Gene Model

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

AlphaFold

Q9QXX4

Predicted Effect

probably benign
Transcript: ENSMUST00000015256
AA Change: S362T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: S362T

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 benign
Transcript: ENSMUST00000188414
AA Change: S362T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: S362T

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

Meta Mutation Damage Score

0.0800

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Slc25a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Slc25a13	APN	6	6,042,739 (GRCm39)	critical splice donor site	probably null
IGL02237:Slc25a13	APN	6	6,042,646 (GRCm39)	missense	probably damaging	1.00
IGL02285:Slc25a13	APN	6	6,042,643 (GRCm39)	missense	possibly damaging	0.95
IGL02287:Slc25a13	APN	6	6,216,992 (GRCm39)	splice site	probably benign
IGL02593:Slc25a13	APN	6	6,042,265 (GRCm39)	missense	probably benign	0.00
R0028:Slc25a13	UTSW	6	6,181,047 (GRCm39)	missense	probably benign	0.10
R0384:Slc25a13	UTSW	6	6,042,600 (GRCm39)	nonsense	probably null
R0711:Slc25a13	UTSW	6	6,117,128 (GRCm39)	missense	probably damaging	0.99
R1299:Slc25a13	UTSW	6	6,113,937 (GRCm39)	critical splice donor site	probably null
R1625:Slc25a13	UTSW	6	6,096,675 (GRCm39)	missense	probably damaging	1.00
R1701:Slc25a13	UTSW	6	6,152,525 (GRCm39)	critical splice acceptor site	probably null
R1792:Slc25a13	UTSW	6	6,115,104 (GRCm39)	missense	possibly damaging	0.79
R1932:Slc25a13	UTSW	6	6,042,264 (GRCm39)	missense	probably benign	0.33
R1933:Slc25a13	UTSW	6	6,109,262 (GRCm39)	missense	probably damaging	1.00
R1952:Slc25a13	UTSW	6	6,152,482 (GRCm39)	missense	probably damaging	1.00
R1969:Slc25a13	UTSW	6	6,096,668 (GRCm39)	critical splice donor site	probably null
R2027:Slc25a13	UTSW	6	6,073,487 (GRCm39)	missense	probably damaging	1.00
R2074:Slc25a13	UTSW	6	6,114,017 (GRCm39)	missense	probably benign	0.21
R2432:Slc25a13	UTSW	6	6,114,017 (GRCm39)	missense	probably benign	0.21
R2508:Slc25a13	UTSW	6	6,117,190 (GRCm39)	missense	probably benign	0.06
R3774:Slc25a13	UTSW	6	6,109,288 (GRCm39)	missense	probably damaging	1.00
R3775:Slc25a13	UTSW	6	6,109,288 (GRCm39)	missense	probably damaging	1.00
R4804:Slc25a13	UTSW	6	6,109,213 (GRCm39)	missense	probably damaging	1.00
R4816:Slc25a13	UTSW	6	6,114,274 (GRCm39)	missense	possibly damaging	0.71
R4978:Slc25a13	UTSW	6	6,042,300 (GRCm39)	missense	probably damaging	0.97
R6529:Slc25a13	UTSW	6	6,073,451 (GRCm39)	missense	probably benign	0.39
R6615:Slc25a13	UTSW	6	6,073,454 (GRCm39)	missense	probably damaging	1.00
R6709:Slc25a13	UTSW	6	6,073,440 (GRCm39)	missense	possibly damaging	0.88
R7346:Slc25a13	UTSW	6	6,181,100 (GRCm39)	missense	possibly damaging	0.67
R7571:Slc25a13	UTSW	6	6,052,785 (GRCm39)	missense	probably damaging	1.00
R7807:Slc25a13	UTSW	6	6,117,164 (GRCm39)	missense	probably damaging	0.99
R7852:Slc25a13	UTSW	6	6,152,461 (GRCm39)	missense	probably damaging	0.96
R8460:Slc25a13	UTSW	6	6,073,513 (GRCm39)	missense	probably damaging	1.00
R8710:Slc25a13	UTSW	6	6,114,238 (GRCm39)	missense	probably benign	0.21
R9128:Slc25a13	UTSW	6	6,109,987 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGAAAGCAAACCCTTGGCTC -3'
(R):5'- CCCAAGTCAGTTATCAACCTGCCTG -3'

Sequencing Primer
(F):5'- AAACCCTTGGCTCCCACTC -3'
(R):5'- gggaggcagaggcagag -3'

Posted On

2013-05-09