Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Slc25a24'

360317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a24

Ensembl Gene

ENSMUSG00000040322

Gene Name

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

Synonyms

2610016M12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

109030465-109075725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109062387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 159 (I159N)

Ref Sequence

ENSEMBL: ENSMUSP00000029477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029477] [ENSMUST00000140786]

AlphaFold

Q8BMD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029477
AA Change: I159N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029477
Gene: ENSMUSG00000040322
AA Change: I159N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140786

SMART Domains

Protein: ENSMUSP00000143109
Gene: ENSMUSG00000040322

Domain	Start	End	E-Value	Type
EFh	23	51	1.5e-4	SMART
EFh	59	87	6.3e-4	SMART

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	C	T	12: 37,302,480 (GRCm39)	L106F	probably benign	Het
Appl1	A	G	14: 26,673,473 (GRCm39)	I208T	possibly damaging	Het
Arap2	G	T	5: 62,906,452 (GRCm39)	A189D	probably benign	Het
Arhgef12	T	C	9: 42,883,324 (GRCm39)	K1402E	possibly damaging	Het
C7	A	C	15: 5,079,042 (GRCm39)	F89V	probably damaging	Het
Camsap2	G	A	1: 136,208,861 (GRCm39)	T877I	probably damaging	Het
Cpt2	T	C	4: 107,764,583 (GRCm39)	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dnah10	C	A	5: 124,875,078 (GRCm39)	T2528N	probably damaging	Het
Entpd8	G	T	2: 24,975,151 (GRCm39)	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,163,135 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,943,444 (GRCm39)	V779A	probably damaging	Het
Gckr	T	C	5: 31,455,548 (GRCm39)	S34P	probably damaging	Het
Golga4	T	C	9: 118,364,528 (GRCm39)	V297A	probably benign	Het
Gpr65	T	C	12: 98,241,469 (GRCm39)	S41P	probably damaging	Het
Gps1	G	T	11: 120,677,649 (GRCm39)	A221S	probably damaging	Het
Heatr1	T	A	13: 12,448,867 (GRCm39)	S1861T	probably damaging	Het
Hmces	A	G	6: 87,902,711 (GRCm39)	E184G	probably damaging	Het
Itfg1	T	C	8: 86,452,140 (GRCm39)		probably null	Het
Mrtfb	C	T	16: 13,221,020 (GRCm39)	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,291 (GRCm39)	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,331,317 (GRCm39)	A360S	probably damaging	Het
Nop9	A	G	14: 55,987,533 (GRCm39)	H298R	probably benign	Het
Or5an1	A	T	19: 12,261,347 (GRCm39)	S312C	possibly damaging	Het
Or5h17	T	A	16: 58,820,321 (GRCm39)	V91E	probably benign	Het
Or6ae1	T	C	7: 139,742,287 (GRCm39)	D192G	possibly damaging	Het
Osgin1	A	G	8: 120,170,006 (GRCm39)	M158V	probably benign	Het
Patj	C	A	4: 98,314,301 (GRCm39)	Q374K	probably damaging	Het
Pck1	G	T	2: 172,997,797 (GRCm39)	G289W	probably damaging	Het
Phkg1	T	G	5: 129,894,895 (GRCm39)	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,061,081 (GRCm39)	A533T	probably damaging	Het
Ppwd1	T	C	13: 104,350,192 (GRCm39)	I398V	probably benign	Het
Prkdc	A	G	16: 15,651,530 (GRCm39)		probably benign	Het
Psg25	G	A	7: 18,260,212 (GRCm39)	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,608,265 (GRCm39)	Q24L	probably benign	Het
Sgk3	T	C	1: 9,949,273 (GRCm39)	I147T	possibly damaging	Het
Slc26a4	T	C	12: 31,572,526 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,541,714 (GRCm39)	I347V	probably benign	Het
Spag17	A	T	3: 100,016,713 (GRCm39)	M2163L	probably benign	Het
Stab2	C	T	10: 86,786,133 (GRCm39)		probably benign	Het
Sult2a8	G	A	7: 14,145,630 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,078,320 (GRCm39)	L4718P	probably damaging	Het
Timd4	G	T	11: 46,706,521 (GRCm39)	G108W	probably damaging	Het
Timm9	T	C	12: 71,173,148 (GRCm39)		probably benign	Het
Vmn2r98	G	A	17: 19,286,275 (GRCm39)	V258I	probably benign	Het
Zcchc9	C	T	13: 91,949,000 (GRCm39)	V174I	probably benign	Het
Zdbf2	T	C	1: 63,342,236 (GRCm39)	V205A	possibly damaging	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
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
R5299:Slc25a24	UTSW	3	109,073,668 (GRCm39)	missense	probably benign	0.03
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

Posted On

2015-12-18