Mutagenetix > Incidental Mutation

Incidental Mutation 'R5299:Slc25a24'

405559

Institutional Source

Beutler Lab

Gene Symbol

Slc25a24

Ensembl Gene

ENSMUSG00000040322

Gene Name

solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24

Synonyms

2610016M12Rik

MMRRC Submission

042882-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5299 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109030465-109075725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109073668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 424 (S424G)

Ref Sequence

ENSEMBL: ENSMUSP00000029477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029477]

AlphaFold

Q8BMD8

Predicted Effect

probably benign
Transcript: ENSMUST00000029477
AA Change: S424G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029477
Gene: ENSMUSG00000040322
AA Change: S424G

Domain	Start	End	E-Value	Type
EFh	23	51	3.08e-2	SMART
EFh	59	87	1.32e-1	SMART
EFh	90	118	1.65e-2	SMART
Blast:EFh	126	154	7e-9	BLAST
Pfam:Mito_carr	190	281	2.1e-27	PFAM
Pfam:Mito_carr	282	374	8.1e-27	PFAM
Pfam:Mito_carr	380	473	4.8e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,381,861 (GRCm39)	I3838V	probably damaging	Het
Arid1a	A	T	4: 133,414,537 (GRCm39)	D1231E	unknown	Het
Atxn1	A	T	13: 45,710,730 (GRCm39)	I734K	probably benign	Het
Axin1	A	G	17: 26,392,708 (GRCm39)	S330G	probably damaging	Het
Bend3	G	A	10: 43,369,686 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,296 (GRCm39)	T88I	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dst	A	G	1: 34,174,173 (GRCm39)	I179M	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Exoc2	A	T	13: 31,055,901 (GRCm39)		probably null	Het
Grk2	T	C	19: 4,342,799 (GRCm39)	E45G	probably damaging	Het
Ift81	T	C	5: 122,745,119 (GRCm39)	Y144C	probably damaging	Het
Ighv1-15	T	C	12: 114,620,998 (GRCm39)	D109G	probably damaging	Het
Igtp	T	C	11: 58,097,959 (GRCm39)	W377R	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map2k6	A	G	11: 110,383,789 (GRCm39)	D145G	probably benign	Het
Mcph1	T	C	8: 18,702,596 (GRCm39)		probably benign	Het
Mdfi	A	G	17: 48,131,759 (GRCm39)	V95A	possibly damaging	Het
Mical3	A	G	6: 120,936,473 (GRCm39)	L1351P	possibly damaging	Het
Nbas	C	T	12: 13,491,926 (GRCm39)	Q1506*	probably null	Het
Nelfb	A	G	2: 25,100,757 (GRCm39)	V128A	probably benign	Het
Otog	A	G	7: 45,938,275 (GRCm39)	T1995A	probably benign	Het
Ppp1r7	A	T	1: 93,280,348 (GRCm39)	I139L	probably benign	Het
Ppp2r1b	A	G	9: 50,768,340 (GRCm39)	D19G	probably benign	Het
Proca1	T	C	11: 78,096,078 (GRCm39)	S150P	probably damaging	Het
Rhof	A	G	5: 123,258,611 (GRCm39)	V100A	probably damaging	Het
Rsbn1	G	C	3: 103,821,806 (GRCm39)	G14R	probably benign	Het
Serinc1	A	G	10: 57,399,147 (GRCm39)	I252T	probably damaging	Het
Skint4	A	T	4: 111,993,203 (GRCm39)	I309F	possibly damaging	Het
Slc12a3	A	G	8: 95,078,417 (GRCm39)	Y815C	probably damaging	Het
Spint2	G	A	7: 28,963,151 (GRCm39)	A49V	probably damaging	Het
Traf3ip3	T	A	1: 192,860,483 (GRCm39)	K480*	probably null	Het
Ube2g2	T	C	10: 77,480,379 (GRCm39)	S162P	possibly damaging	Het
Ubxn8	C	A	8: 34,131,947 (GRCm39)	V7L	possibly damaging	Het
Vmn1r200	T	A	13: 22,579,945 (GRCm39)	C249*	probably null	Het
Vmn1r38	T	A	6: 66,753,682 (GRCm39)	T145S	probably benign	Het
Wapl	G	A	14: 34,455,765 (GRCm39)		probably null	Het
Wfdc6a	T	C	2: 164,422,311 (GRCm39)	N96S	possibly damaging	Het
Zfp503	A	G	14: 22,035,507 (GRCm39)	S470P	probably benign	Het

Other mutations in Slc25a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Slc25a24	APN	3	109,066,670 (GRCm39)	missense	probably damaging	1.00
IGL01065:Slc25a24	APN	3	109,065,967 (GRCm39)	unclassified	probably benign
IGL01769:Slc25a24	APN	3	109,056,816 (GRCm39)	missense	probably damaging	0.99
IGL02803:Slc25a24	APN	3	109,062,387 (GRCm39)	missense	probably damaging	0.99
IGL03349:Slc25a24	APN	3	109,056,865 (GRCm39)	missense	possibly damaging	0.67
R0318:Slc25a24	UTSW	3	109,064,316 (GRCm39)	missense	probably benign	0.00
R0448:Slc25a24	UTSW	3	109,064,332 (GRCm39)	splice site	probably benign
R1554:Slc25a24	UTSW	3	109,043,586 (GRCm39)	missense	probably benign	0.02
R1564:Slc25a24	UTSW	3	109,070,819 (GRCm39)	missense	probably damaging	1.00
R1935:Slc25a24	UTSW	3	109,043,581 (GRCm39)	missense	probably damaging	1.00
R1936:Slc25a24	UTSW	3	109,043,581 (GRCm39)	missense	probably damaging	1.00
R4936:Slc25a24	UTSW	3	109,070,864 (GRCm39)	missense	probably damaging	0.98
R6480:Slc25a24	UTSW	3	109,043,617 (GRCm39)	missense	probably damaging	1.00
R6748:Slc25a24	UTSW	3	109,056,823 (GRCm39)	missense	possibly damaging	0.67
R7269:Slc25a24	UTSW	3	109,065,960 (GRCm39)	missense	probably null	0.99
R7483:Slc25a24	UTSW	3	109,066,751 (GRCm39)	missense	probably damaging	1.00
R8362:Slc25a24	UTSW	3	109,065,878 (GRCm39)	missense	possibly damaging	0.86
R9017:Slc25a24	UTSW	3	109,062,395 (GRCm39)	missense	possibly damaging	0.91
R9022:Slc25a24	UTSW	3	109,070,757 (GRCm39)	missense	probably benign	0.06
R9178:Slc25a24	UTSW	3	109,064,268 (GRCm39)	missense	possibly damaging	0.92
R9258:Slc25a24	UTSW	3	109,066,751 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCACTGTAACACGCTG -3'
(R):5'- CAAAGGCTTGGACTGGTCACTTC -3'

Sequencing Primer
(F):5'- GGAACTGGTTTTTATCGATTCTTTGC -3'
(R):5'- GGACTGGTCACTTCTGAGCTAC -3'

Posted On

2016-07-22