Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Slc25a10'

541384

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

045066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120382666-120390013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120388973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 279 (H279R)

Ref Sequence

ENSEMBL: ENSMUSP00000026899 (fasta)

Gene Model

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

AlphaFold

Q9QZD8

Predicted Effect

probably benign
Transcript: ENSMUST00000026899
AA Change: H279R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792
AA Change: H279R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	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
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
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

PCR Primer
(F):5'- AGACAGCAAAGCTTGGACCC -3'
(R):5'- ACCTCTTCTGAGTGAATCATCG -3'

Sequencing Primer
(F):5'- GGACCCCAGGCCTTTTTCAAG -3'
(R):5'- CCTCTTCTGAGTGAATCATCGGATAG -3'

Posted On

2018-11-28