Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01769:Slc25a24'

153801

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

109123149-109168457 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109149500 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 110 (E110K)

Ref Sequence

ENSEMBL: ENSMUSP00000029477 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029477
AA Change: E110K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029477
Gene: ENSMUSG00000040322
AA Change: E110K

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,486	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,642,919	T487S	probably benign	Het
Bahcc1	T	C	11: 120,280,204		probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cldn10	G	A	14: 118,873,717		probably benign	Het
Cntn3	G	A	6: 102,208,184	T657I	probably damaging	Het
Crb1	A	T	1: 139,337,068	I204K	probably damaging	Het
Crim1	C	A	17: 78,313,235	T368K	probably benign	Het
Csad	C	A	15: 102,180,081	V237L	probably benign	Het
Cyp39a1	T	G	17: 43,749,915	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,816,360	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,764,944	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 151,979,302	I452L	probably damaging	Het
Dpf2	T	C	19: 5,912,782		probably benign	Het
Elovl2	A	C	13: 41,186,944	V225G	probably damaging	Het
Fancd2	T	A	6: 113,545,111	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,635,171		probably benign	Het
Foxp2	T	C	6: 15,409,835	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,323,529	V317M	probably benign	Het
Igkv3-5	G	A	6: 70,663,352		probably benign	Het
Isg20	G	A	7: 78,914,381	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,817,877	R34C	probably benign	Het
Olfr924	T	C	9: 38,848,333	V73A	probably benign	Het
Pramel7	A	G	2: 87,489,588	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760	E176V	probably damaging	Het
Sema4a	T	A	3: 88,449,756	I303F	possibly damaging	Het
Slc7a13	A	T	4: 19,839,527	I377L	probably benign	Het
Smim19	T	C	8: 22,463,377		probably null	Het
Tiam2	A	G	17: 3,427,290	Y596C	probably damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ubxn8	G	A	8: 33,629,378		probably benign	Het
Vmn2r108	C	A	17: 20,471,018	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,380,115	N467S	probably damaging	Het
Zfp456	T	A	13: 67,367,153	T145S	probably benign	Het

Other mutations in Slc25a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Slc25a24	APN	3	109159354	missense	probably damaging	1.00
IGL01065:Slc25a24	APN	3	109158651	unclassified	probably benign
IGL02803:Slc25a24	APN	3	109155071	missense	probably damaging	0.99
IGL03349:Slc25a24	APN	3	109149549	missense	possibly damaging	0.67
R0318:Slc25a24	UTSW	3	109157000	missense	probably benign	0.00
R0448:Slc25a24	UTSW	3	109157016	splice site	probably benign
R1554:Slc25a24	UTSW	3	109136270	missense	probably benign	0.02
R1564:Slc25a24	UTSW	3	109163503	missense	probably damaging	1.00
R1935:Slc25a24	UTSW	3	109136265	missense	probably damaging	1.00
R1936:Slc25a24	UTSW	3	109136265	missense	probably damaging	1.00
R4936:Slc25a24	UTSW	3	109163548	missense	probably damaging	0.98
R5299:Slc25a24	UTSW	3	109166352	missense	probably benign	0.03
R6480:Slc25a24	UTSW	3	109136301	missense	probably damaging	1.00
R6748:Slc25a24	UTSW	3	109149507	missense	possibly damaging	0.67
R7269:Slc25a24	UTSW	3	109158644	missense	probably null	0.99
R7483:Slc25a24	UTSW	3	109159435	missense	probably damaging	1.00

Posted On

2014-02-04