Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Slc25a13'

251494

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

040414-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6041218-6217173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6117190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 175 (T175I)

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: T175I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: T175I

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: T175I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: T175I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,132 (GRCm39)	T20I	probably benign	Het
Adamts2	C	T	11: 50,679,516 (GRCm39)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,239,298 (GRCm39)		probably null	Het
Ankrd61	T	C	5: 143,833,894 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,039 (GRCm39)	Y506S	possibly damaging	Het
Aox1	T	A	1: 58,382,832 (GRCm39)	H1037Q	probably benign	Het
Auh	G	A	13: 53,052,755 (GRCm39)	R47*	probably null	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,279,039 (GRCm39)	L667P	probably damaging	Het
Cenpe	A	T	3: 134,946,834 (GRCm39)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,799,969 (GRCm39)	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,833,236 (GRCm39)	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clu	T	C	14: 66,212,452 (GRCm39)	V135A	probably damaging	Het
Cmip	T	A	8: 118,163,432 (GRCm39)	S388T	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Crym	T	C	7: 119,801,050 (GRCm39)	N33S	probably benign	Het
Ctcf	T	A	8: 106,398,016 (GRCm39)	V434E	probably damaging	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,008,547 (GRCm39)	Y383C	probably benign	Het
Dock2	T	C	11: 34,262,485 (GRCm39)	T957A	probably benign	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Eif1ad16	T	C	12: 87,985,258 (GRCm39)	Y95C	probably damaging	Het
Fads3	A	G	19: 10,033,818 (GRCm39)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,456,592 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,974,553 (GRCm39)	K322N	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,178,473 (GRCm39)	T322A	probably damaging	Het
Gm6871	T	A	7: 41,197,414 (GRCm39)	T149S	probably benign	Het
Gpr26	C	T	7: 131,568,823 (GRCm39)	T56I	probably damaging	Het
Grik4	C	A	9: 42,533,438 (GRCm39)	G361C	probably damaging	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Igsf5	T	A	16: 96,165,247 (GRCm39)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,289,355 (GRCm39)	I522F	probably damaging	Het
Insm2	C	A	12: 55,647,096 (GRCm39)	T280K	probably benign	Het
Itih4	T	C	14: 30,617,435 (GRCm39)	V585A	probably damaging	Het
Katnip	T	A	7: 125,394,515 (GRCm39)	V197D	probably benign	Het
Knl1	A	T	2: 118,888,849 (GRCm39)	R17*	probably null	Het
Lag3	G	T	6: 124,888,272 (GRCm39)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,648,093 (GRCm39)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,697,941 (GRCm39)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,736,717 (GRCm39)	D872V	probably damaging	Het
Mlycd	T	C	8: 120,134,446 (GRCm39)		probably null	Het
Mpl	C	A	4: 118,312,954 (GRCm39)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,368,681 (GRCm39)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,104,424 (GRCm39)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Neb	T	C	2: 52,085,533 (GRCm39)	I1521V	probably benign	Het
Notch1	A	G	2: 26,355,485 (GRCm39)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4p20	T	C	2: 88,253,800 (GRCm39)	T190A	possibly damaging	Het
Or6c66	T	A	10: 129,461,784 (GRCm39)	I49L	probably benign	Het
Or8k23	A	G	2: 86,186,708 (GRCm39)	L6P	possibly damaging	Het
Otogl	A	G	10: 107,710,361 (GRCm39)	L576P	probably damaging	Het
P2ry1	C	T	3: 60,910,900 (GRCm39)	T13M	probably damaging	Het
Pak6	A	T	2: 118,525,050 (GRCm39)	R559*	probably null	Het
Parvb	A	T	15: 84,182,171 (GRCm39)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,145,907 (GRCm39)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,126,092 (GRCm39)	Y775*	probably null	Het
Pgam5	A	G	5: 110,413,869 (GRCm39)	L98P	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,604,205 (GRCm39)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,102,428 (GRCm39)	I202F	probably benign	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,322,803 (GRCm39)	T249S	probably benign	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,840,163 (GRCm39)		probably null	Het
Rnf185	A	G	11: 3,368,067 (GRCm39)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,594,595 (GRCm39)	Y1266F	probably damaging	Het
Senp7	T	A	16: 55,971,725 (GRCm39)	H287Q	probably benign	Het
Sgsm3	T	C	15: 80,888,073 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,658 (GRCm39)	V104E	possibly damaging	Het
Slc26a3	T	A	12: 31,520,902 (GRCm39)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,761,465 (GRCm39)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,994,461 (GRCm39)	C90S	probably damaging	Het
Sspo	T	C	6: 48,441,298 (GRCm39)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Syngr1	C	T	15: 79,995,941 (GRCm39)	T160M	probably damaging	Het
Tent2	A	G	13: 93,320,726 (GRCm39)	L109S	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,085 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm39)	V296E	probably damaging	Het
Timp2	C	T	11: 118,201,412 (GRCm39)	C75Y	probably damaging	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,158,940 (GRCm39)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,112,424 (GRCm39)	I74L	probably benign	Het
Trbv5	T	A	6: 41,039,555 (GRCm39)	Y53*	probably null	Het
Trpm5	T	C	7: 142,642,656 (GRCm39)	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,932,931 (GRCm39)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,147,620 (GRCm39)	I200F	probably benign	Het
Unc45a	G	A	7: 79,988,623 (GRCm39)	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182 (GRCm39)	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,855 (GRCm39)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,200,554 (GRCm39)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,954,229 (GRCm39)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,477,736 (GRCm39)	M225K	probably benign	Het
Wdr24	A	T	17: 26,043,273 (GRCm39)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,552,521 (GRCm39)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,168,264 (GRCm39)	H791R	unknown	Het
Zfp24	A	G	18: 24,150,927 (GRCm39)	L73P	probably damaging	Het
Zfp616	T	C	11: 73,974,121 (GRCm39)	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,680,429 (GRCm39)		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,680,430 (GRCm39)		probably benign	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
R0045:Slc25a13	UTSW	6	6,109,277 (GRCm39)	missense	probably benign	0.05
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
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'- GCAAGGGTGATAATATACATGATCACG -3'
(R):5'- CGCATTTAAACAGGCAGGTG -3'

Sequencing Primer
(F):5'- TTAGGGTGTTAAACAAGGACTGCTC -3'
(R):5'- TGGGGCCTGTGAAATCAC -3'

Posted On

2014-12-04