Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

Q9QZD8

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 (GRCm38)	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231 (GRCm38)	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062 (GRCm38)	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900 (GRCm38)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986 (GRCm38)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167 (GRCm38)	L219P	probably benign	Het
Boc	C	T	16: 44,491,849 (GRCm38)	V617M		Het
Ccl8	A	G	11: 82,115,207 (GRCm38)		probably benign	Het
Col18a1	A	G	10: 77,085,383 (GRCm38)	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086 (GRCm38)		probably null	Het
Cryba4	A	C	5: 112,248,173 (GRCm38)		probably null	Het
Csf2rb	A	G	15: 78,338,930 (GRCm38)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016 (GRCm38)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm38)	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030 (GRCm38)	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434 (GRCm38)		probably null	Het
Elp4	G	T	2: 105,904,481 (GRCm38)	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910 (GRCm38)	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490 (GRCm38)	Y2C	probably damaging	Het
Fam81b	G	T	13: 76,271,294 (GRCm38)	L46I	possibly damaging	Het
Fam81b	A	C	13: 76,271,293 (GRCm38)	L46R	probably damaging	Het
Fbxo15	T	A	18: 84,964,153 (GRCm38)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980 (GRCm38)	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852 (GRCm38)	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276 (GRCm38)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119 (GRCm38)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517 (GRCm38)	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543 (GRCm38)	S529I	unknown	Het
Leo1	A	G	9: 75,445,562 (GRCm38)	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349 (GRCm38)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569 (GRCm38)	S472P	probably benign	Het
Med27	T	A	2: 29,377,938 (GRCm38)	V33D		Het
Mup15	C	T	4: 61,438,289 (GRCm38)	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420 (GRCm38)	R199H		Het
Nebl	T	A	2: 17,390,916 (GRCm38)	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269 (GRCm38)	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259 (GRCm38)	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986 (GRCm38)	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991 (GRCm38)	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885 (GRCm38)	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353 (GRCm38)	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440 (GRCm38)	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353 (GRCm38)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661 (GRCm38)	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547 (GRCm38)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm38)	Y337C	probably damaging	Het
Slc29a2	A	T	19: 5,024,262 (GRCm38)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm38)	H150Q		Het
Slc5a4a	T	A	10: 76,147,550 (GRCm38)	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000 (GRCm38)	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707 (GRCm38)	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174 (GRCm38)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm38)	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644 (GRCm38)	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238 (GRCm38)	V326A	possibly damaging	Het

Other mutations in Slc25a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Slc25a10	APN	11	120,497,107 (GRCm38)	critical splice donor site	probably null
IGL00816:Slc25a10	APN	11	120,495,150 (GRCm38)	splice site	probably benign
IGL02448:Slc25a10	APN	11	120,497,053 (GRCm38)	missense	probably benign	0.01
R2291:Slc25a10	UTSW	11	120,497,074 (GRCm38)	missense	probably benign
R2860:Slc25a10	UTSW	11	120,495,177 (GRCm38)	missense	probably damaging	0.98
R2861:Slc25a10	UTSW	11	120,495,177 (GRCm38)	missense	probably damaging	0.98
R3938:Slc25a10	UTSW	11	120,491,993 (GRCm38)	nonsense	probably null
R4019:Slc25a10	UTSW	11	120,497,439 (GRCm38)	missense	probably damaging	0.99
R4020:Slc25a10	UTSW	11	120,497,439 (GRCm38)	missense	probably damaging	0.99
R4457:Slc25a10	UTSW	11	120,497,089 (GRCm38)	missense	probably benign
R4542:Slc25a10	UTSW	11	120,497,981 (GRCm38)	splice site	probably null
R5643:Slc25a10	UTSW	11	120,496,376 (GRCm38)	intron	probably benign
R5869:Slc25a10	UTSW	11	120,498,117 (GRCm38)	missense	probably damaging	0.98
R6032:Slc25a10	UTSW	11	120,494,958 (GRCm38)	critical splice acceptor site	probably null
R6032:Slc25a10	UTSW	11	120,494,958 (GRCm38)	critical splice acceptor site	probably null
R6455:Slc25a10	UTSW	11	120,495,205 (GRCm38)	missense	probably damaging	1.00
R6574:Slc25a10	UTSW	11	120,497,077 (GRCm38)	missense	probably benign
R6954:Slc25a10	UTSW	11	120,498,147 (GRCm38)	missense	probably benign
R7302:Slc25a10	UTSW	11	120,491,956 (GRCm38)	unclassified	probably benign
R7618:Slc25a10	UTSW	11	120,496,971 (GRCm38)	splice site	probably null
R7883:Slc25a10	UTSW	11	120,494,514 (GRCm38)	missense	possibly damaging	0.84
R8855:Slc25a10	UTSW	11	120,494,969 (GRCm38)	missense	probably damaging	1.00
R9683:Slc25a10	UTSW	11	120,495,486 (GRCm38)	missense	probably damaging	1.00

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