Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Slc25a10'

454344

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

044077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

120382666-120390013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120388943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 269 (T269I)

Ref Sequence

ENSEMBL: ENSMUSP00000026899 (fasta)

Gene Model

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

AlphaFold

Q9QZD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026899
AA Change: T269I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792
AA Change: T269I

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: ENSMUST00000144706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152187

Meta Mutation Damage Score

0.3648

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Cep192	A	G	18: 67,948,935 (GRCm39)	D252G	probably benign	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Itpr1	T	C	6: 108,450,490 (GRCm39)	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Pitx3	A	T	19: 46,125,735 (GRCm39)		probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Spart	A	T	3: 55,042,931 (GRCm39)	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp523	T	C	17: 28,413,967 (GRCm39)	I34T	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	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
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
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

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

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

Posted On

2017-02-10