Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Slc25a10'

480465

Institutional Source

Beutler Lab

Gene Symbol

Slc25a10

Ensembl Gene

ENSMUSG00000025792

Gene Name

solute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10

Synonyms

Dic

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6032 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

120382666-120390013 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 120385784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026899]

AlphaFold

Q9QZD8

Predicted Effect

probably null
Transcript: ENSMUST00000026899

SMART Domains

Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	5	92	4.1e-20	PFAM
Pfam:Mito_carr	94	191	2e-18	PFAM
Pfam:Mito_carr	195	284	7.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152187

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.0%
20x: 85.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	Het

Other mutations in Slc25a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Slc25a10	APN	11	120,387,933 (GRCm39)	critical splice donor site	probably null
IGL00816:Slc25a10	APN	11	120,385,976 (GRCm39)	splice site	probably benign
IGL02448:Slc25a10	APN	11	120,387,879 (GRCm39)	missense	probably benign	0.01
R2291:Slc25a10	UTSW	11	120,387,900 (GRCm39)	missense	probably benign
R2860:Slc25a10	UTSW	11	120,386,003 (GRCm39)	missense	probably damaging	0.98
R2861:Slc25a10	UTSW	11	120,386,003 (GRCm39)	missense	probably damaging	0.98
R3938:Slc25a10	UTSW	11	120,382,819 (GRCm39)	nonsense	probably null
R4019:Slc25a10	UTSW	11	120,388,265 (GRCm39)	missense	probably damaging	0.99
R4020:Slc25a10	UTSW	11	120,388,265 (GRCm39)	missense	probably damaging	0.99
R4457:Slc25a10	UTSW	11	120,387,915 (GRCm39)	missense	probably benign
R4542:Slc25a10	UTSW	11	120,388,807 (GRCm39)	splice site	probably null
R5643:Slc25a10	UTSW	11	120,387,202 (GRCm39)	intron	probably benign
R5869:Slc25a10	UTSW	11	120,388,943 (GRCm39)	missense	probably damaging	0.98
R6032:Slc25a10	UTSW	11	120,385,784 (GRCm39)	critical splice acceptor site	probably null
R6455:Slc25a10	UTSW	11	120,386,031 (GRCm39)	missense	probably damaging	1.00
R6574:Slc25a10	UTSW	11	120,387,903 (GRCm39)	missense	probably benign
R6954:Slc25a10	UTSW	11	120,388,973 (GRCm39)	missense	probably benign
R7302:Slc25a10	UTSW	11	120,382,782 (GRCm39)	unclassified	probably benign
R7618:Slc25a10	UTSW	11	120,387,797 (GRCm39)	splice site	probably null
R7671:Slc25a10	UTSW	11	120,386,286 (GRCm39)	missense	probably benign	0.18
R7883:Slc25a10	UTSW	11	120,385,340 (GRCm39)	missense	possibly damaging	0.84
R8855:Slc25a10	UTSW	11	120,385,795 (GRCm39)	missense	probably damaging	1.00
R9683:Slc25a10	UTSW	11	120,386,312 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26