Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02393:Slc25a25'

293892

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a25

Ensembl Gene

ENSMUSG00000026819

Gene Name

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

Synonyms

1110030N17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

32414487-32451445 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32417843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 259 (V259I)

Ref Sequence

ENSEMBL: ENSMUSP00000060581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028160] [ENSMUST00000052119] [ENSMUST00000113307] [ENSMUST00000113308] [ENSMUST00000113310] [ENSMUST00000136361] [ENSMUST00000153886]

AlphaFold

A2ASZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000028160
AA Change: V272I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: V272I

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
EFh	48	76	8.73e0	SMART
EFh	84	112	2.64e-1	SMART
EFh	115	143	1.36e0	SMART
Blast:EFh	151	191	1e-9	BLAST
Pfam:Mito_carr	227	320	1.7e-26	PFAM
Pfam:Mito_carr	321	413	6.4e-26	PFAM
Pfam:Mito_carr	418	512	9.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052119
AA Change: V259I

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: V259I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EFh	71	99	4.53e0	SMART
EFh	102	130	1.36e0	SMART
Blast:EFh	138	178	2e-9	BLAST
Pfam:Mito_carr	214	307	1.2e-26	PFAM
Pfam:Mito_carr	308	400	2.5e-27	PFAM
Pfam:Mito_carr	405	500	4.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113307
AA Change: V227I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: V227I

Domain	Start	End	E-Value	Type
EFh	51	79	9.51e0	SMART
EFh	82	110	1.36e0	SMART
EFh	118	146	8.82e1	SMART
Pfam:Mito_carr	182	275	1.1e-26	PFAM
Pfam:Mito_carr	276	368	2.2e-27	PFAM
Pfam:Mito_carr	373	468	4.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113308
AA Change: V247I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: V247I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EFh	71	99	4.53e0	SMART
EFh	102	130	1.36e0	SMART
EFh	138	166	8.82e1	SMART
Pfam:Mito_carr	202	295	1.1e-26	PFAM
Pfam:Mito_carr	296	388	2.4e-27	PFAM
Pfam:Mito_carr	393	488	4.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113310
AA Change: V260I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: V260I

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
EFh	48	76	8.73e0	SMART
EFh	84	112	2.64e-1	SMART
EFh	115	143	1.36e0	SMART
EFh	151	179	8.82e1	SMART
Pfam:Mito_carr	215	308	1.2e-26	PFAM
Pfam:Mito_carr	309	401	2.5e-27	PFAM
Pfam:Mito_carr	406	501	4.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127961

SMART Domains

Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819

Domain	Start	End	E-Value	Type
EFh	36	64	8.99e0	SMART
EFh	67	95	1.36e0	SMART
Blast:EFh	103	143	1e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128611

Predicted Effect

probably benign
Transcript: ENSMUST00000136361
AA Change: V212I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: V212I

Domain	Start	End	E-Value	Type
EFh	36	64	8.99e0	SMART
EFh	67	95	1.36e0	SMART
EFh	103	131	8.82e1	SMART
Pfam:Mito_carr	167	260	9.3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153782

Predicted Effect

probably benign
Transcript: ENSMUST00000153886

SMART Domains

Protein: ENSMUSP00000141486
Gene: ENSMUSG00000026819

Domain	Start	End	E-Value	Type
SCOP:d1exra_	1	38	1e-4	SMART
Blast:EFh	15	43	2e-13	BLAST
Pfam:Mito_carr	79	112	1.1e-7	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,687,368	I253M	probably damaging	Het
Adam32	A	T	8: 24,920,053	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,914,440	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,877,183	S357R	probably benign	Het
Camsap1	T	C	2: 25,938,322	H1130R	probably benign	Het
Cdkl4	A	G	17: 80,560,415	F35L	probably damaging	Het
Crnn	A	G	3: 93,149,368	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,530,031	P95L	probably damaging	Het
Deaf1	A	T	7: 141,313,333	V382E	possibly damaging	Het
Dph7	T	G	2: 24,966,597	V187G	possibly damaging	Het
Fat3	G	T	9: 15,988,412	C3108*	probably null	Het
Ggt5	T	C	10: 75,610,237		probably benign	Het
Kif26a	G	A	12: 112,172,664	V396M	probably damaging	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mterf4	C	T	1: 93,302,879	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,158,911	D32G	probably damaging	Het
Olfr175-ps1	A	G	16: 58,824,046	I221T	probably damaging	Het
Olfr788	T	C	10: 129,473,195	S168P	probably damaging	Het
Olfr808	T	A	10: 129,767,793	V99E	probably benign	Het
P3h2	T	C	16: 25,992,825	Y216C	probably damaging	Het
Pdzd9	A	C	7: 120,662,983	Y85*	probably null	Het
Prkdc	T	A	16: 15,816,758	V3589D	probably benign	Het
Qars	A	G	9: 108,514,329	T26A	probably benign	Het
Rhd	T	C	4: 134,884,095	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,288,987	H555L	probably damaging	Het
Rogdi	G	A	16: 5,009,224	S306F	probably benign	Het
Srrm1	A	T	4: 135,321,414		probably benign	Het
Stkld1	T	C	2: 26,950,142	V408A	probably benign	Het
Thbs1	T	C	2: 118,123,099	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,303,612	*280L	probably null	Het
Trim54	A	G	5: 31,131,980		probably benign	Het
Tspear	G	A	10: 77,836,573	R202H	probably damaging	Het
Vwa8	G	A	14: 79,182,977	G1706D	probably damaging	Het

Other mutations in Slc25a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Slc25a25	APN	2	32419160	missense	probably benign	0.04
IGL01431:Slc25a25	APN	2	32419091	missense	probably damaging	1.00
IGL02211:Slc25a25	APN	2	32417440	missense	probably damaging	1.00
R0385:Slc25a25	UTSW	2	32417822	missense	probably damaging	0.99
R1208:Slc25a25	UTSW	2	32417425	missense	probably benign	0.11
R1208:Slc25a25	UTSW	2	32417425	missense	probably benign	0.11
R1611:Slc25a25	UTSW	2	32420379	missense	probably damaging	1.00
R1960:Slc25a25	UTSW	2	32420651	splice site	probably null
R2405:Slc25a25	UTSW	2	32417719	splice site	probably null
R3749:Slc25a25	UTSW	2	32420380	missense	probably benign	0.21
R4446:Slc25a25	UTSW	2	32430609	missense	probably benign	0.00
R4815:Slc25a25	UTSW	2	32420410	missense	probably damaging	1.00
R5245:Slc25a25	UTSW	2	32421328	nonsense	probably null
R6884:Slc25a25	UTSW	2	32420662	missense	probably benign	0.34
R7144:Slc25a25	UTSW	2	32419166	missense	probably damaging	1.00
R7210:Slc25a25	UTSW	2	32420396	missense	possibly damaging	0.89
R7255:Slc25a25	UTSW	2	32421372	missense	possibly damaging	0.60
R7667:Slc25a25	UTSW	2	32451209	missense	probably benign	0.00
R7893:Slc25a25	UTSW	2	32451165	nonsense	probably null
R8031:Slc25a25	UTSW	2	32421505	missense	probably damaging	0.97
R8550:Slc25a25	UTSW	2	32416193	missense	probably damaging	1.00
R9076:Slc25a25	UTSW	2	32419163	missense	probably damaging	1.00
R9255:Slc25a25	UTSW	2	32420379	missense	probably damaging	1.00
X0021:Slc25a25	UTSW	2	32421514	missense	probably damaging	1.00

Posted On

2015-04-16