Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Slc25a10'

567058

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

045406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7302 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

120382666-120390013 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 120382782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026899] [ENSMUST00000043627]

AlphaFold

Q9QZD8

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000043627

SMART Domains

Protein: ENSMUSP00000044417
Gene: ENSMUSG00000039640

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
Pfam:Ribosomal_L12_N	64	120	4.5e-13	PFAM
Pfam:Ribosomal_L12	133	201	5.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	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
R6954:Slc25a10	UTSW	11	120,388,973 (GRCm39)	missense	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'- TCGTTGCGGCCTCTTTAAGAC -3'
(R):5'- TAATTACCGGGTGCGCAGTC -3'

Sequencing Primer
(F):5'- TTGCGGCCTCTTTAAGACCAGAG -3'
(R):5'- AGCAGGCGCCTTGTAGG -3'

Posted On

2019-06-26