Mutagenetix > Incidental Mutations

Incidental Mutation 'R7671:Slc25a10'

592174

Institutional Source

Beutler Lab

Gene Symbol

Slc25a10

Ensembl Gene

ENSMUSG00000025792

Gene Name

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

Synonyms

Dic

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120491840-120499187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120495460 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 130 (M130K)

Ref Sequence

ENSEMBL: ENSMUSP00000026899 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026899
AA Change: M130K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792
AA Change: M130K

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Slc25a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Slc25a10	APN	11	120497107	critical splice donor site	probably null
IGL00816:Slc25a10	APN	11	120495150	splice site	probably benign
IGL02448:Slc25a10	APN	11	120497053	missense	probably benign	0.01
R2291:Slc25a10	UTSW	11	120497074	missense	probably benign
R2860:Slc25a10	UTSW	11	120495177	missense	probably damaging	0.98
R2861:Slc25a10	UTSW	11	120495177	missense	probably damaging	0.98
R3938:Slc25a10	UTSW	11	120491993	nonsense	probably null
R4019:Slc25a10	UTSW	11	120497439	missense	probably damaging	0.99
R4020:Slc25a10	UTSW	11	120497439	missense	probably damaging	0.99
R4457:Slc25a10	UTSW	11	120497089	missense	probably benign
R4542:Slc25a10	UTSW	11	120497981	splice site	probably null
R5643:Slc25a10	UTSW	11	120496376	intron	probably benign
R5869:Slc25a10	UTSW	11	120498117	missense	probably damaging	0.98
R6032:Slc25a10	UTSW	11	120494958	critical splice acceptor site	probably null
R6032:Slc25a10	UTSW	11	120494958	critical splice acceptor site	probably null
R6455:Slc25a10	UTSW	11	120495205	missense	probably damaging	1.00
R6574:Slc25a10	UTSW	11	120497077	missense	probably benign
R6954:Slc25a10	UTSW	11	120498147	missense	probably benign
R7302:Slc25a10	UTSW	11	120491956	unclassified	probably benign
R7618:Slc25a10	UTSW	11	120496971	intron	probably null
R7883:Slc25a10	UTSW	11	120494514	missense	possibly damaging	0.84
R7966:Slc25a10	UTSW	11	120494514	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCTGCAGTACAGCAAGCCAC -3'
(R):5'- CAGGTGACAGCACTTAGTGAC -3'

Sequencing Primer
(F):5'- CTCAGAAGCTAAGCCTGGC -3'
(R):5'- GTGACAGCACTTAGTGACCTCAG -3'

Posted On

2019-11-12