Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Slc25a25'

369697

Institutional Source

Beutler Lab

Gene Symbol

Slc25a25

Ensembl Gene

ENSMUSG00000026819

Gene Name

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

Synonyms

1110030N17Rik

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4815 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

32414487-32451445 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32420410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

Ref Sequence

ENSEMBL: ENSMUSP00000115617 (fasta)

Gene Model

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

AlphaFold

A2ASZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028160
AA Change: D172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: D172E

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 damaging
Transcript: ENSMUST00000052119
AA Change: D159E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: D159E

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 damaging
Transcript: ENSMUST00000113307
AA Change: D127E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: D127E

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 damaging
Transcript: ENSMUST00000113308
AA Change: D147E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: D147E

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 damaging
Transcript: ENSMUST00000113310
AA Change: D160E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: D160E

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

unknown
Transcript: ENSMUST00000127961
AA Change: D123E

SMART Domains

Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819
AA Change: D123E

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 damaging
Transcript: ENSMUST00000136361
AA Change: D112E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: D112E

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 damaging
Transcript: ENSMUST00000153886
AA Change: D24E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141486
Gene: ENSMUSG00000026819
AA Change: D24E

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

Meta Mutation Damage Score

0.4512

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,349,955	N327K	probably damaging	Het
Ank2	T	C	3: 126,936,761	T675A	probably benign	Het
Arap3	T	C	18: 37,973,243	T1516A	probably benign	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
BC003331	A	G	1: 150,374,846	C294R	probably damaging	Het
C7	A	G	15: 5,059,405	V18A	probably benign	Het
Caap1	A	G	4: 94,501,260	V279A	probably benign	Het
Cacnb2	A	G	2: 14,874,780	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,795,221	S1166P	probably damaging	Het
Chgb	A	T	2: 132,793,299	H387L	probably benign	Het
Chp2	G	A	7: 122,220,900	R91Q	probably damaging	Het
Chuk	C	A	19: 44,077,247	G703*	probably null	Het
Clmn	T	C	12: 104,785,566	D210G	probably damaging	Het
Cyp4f18	A	G	8: 71,995,995	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,858,619		probably benign	Het
Diaph1	A	T	18: 37,895,203	V411D	unknown	Het
Dkk2	C	T	3: 132,173,785	A75V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnase2a	T	C	8: 84,909,877	V187A	probably benign	Het
Dusp19	A	G	2: 80,630,945	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Gm37596	C	T	3: 93,692,286	V259M	probably benign	Het
Golgb1	A	T	16: 36,913,115	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,226	M119V	possibly damaging	Het
Ice2	C	T	9: 69,407,118	R50C	probably damaging	Het
Ifi208	A	T	1: 173,682,837	E186V	probably damaging	Het
Ift122	A	G	6: 115,881,556	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,458,266	C209S	probably benign	Het
Kmt2a	G	A	9: 44,821,256		probably benign	Het
Lrriq1	T	A	10: 103,144,878	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592	T247N	probably damaging	Het
Mctp2	T	G	7: 72,259,349	Q72P	possibly damaging	Het
Miga1	T	C	3: 152,290,806	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,314,277	N19K	probably benign	Het
Mylk	G	A	16: 34,894,925	R541Q	probably damaging	Het
Nav3	T	C	10: 109,823,552	T735A	probably benign	Het
Nlgn1	T	A	3: 25,436,030	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,450,808	E613D	probably benign	Het
Nuf2	A	G	1: 169,510,468	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,398,182	V28A	probably benign	Het
Odf2	A	C	2: 29,902,240	E155D	possibly damaging	Het
Olfr285	T	C	15: 98,312,680	N290S	probably damaging	Het
Olfr695	G	A	7: 106,874,237	P3S	probably benign	Het
Otud7a	T	C	7: 63,729,910		probably null	Het
Pacsin2	A	T	15: 83,385,059	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,695,194	V232I	probably damaging	Het
Plcb3	A	G	19: 6,962,984	I439T	possibly damaging	Het
Rag1	A	G	2: 101,643,516	V427A	probably damaging	Het
Ranbp10	A	T	8: 105,826,125	C128*	probably null	Het
Rbm8a2	A	G	1: 175,978,458	V151A	probably damaging	Het
S100pbp	A	G	4: 129,150,933		probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Sgo2b	T	C	8: 63,931,414	I183V	probably benign	Het
Slc30a5	C	T	13: 100,813,710	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,718,849	I183F	probably benign	Het
Srrm4	T	A	5: 116,475,190	K141N	unknown	Het
Tbc1d20	T	C	2: 152,311,989		probably benign	Het
Tep1	A	G	14: 50,841,302	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,632,120	M494T	probably benign	Het
Tox	A	G	4: 6,823,033	S95P	probably benign	Het
Tpr	G	A	1: 150,398,608	V163I	probably benign	Het
Trpm7	A	G	2: 126,858,492	S2P	probably damaging	Het
Ttn	A	G	2: 76,716,085	M32328T	probably damaging	Het
Vps39	A	T	2: 120,338,559	N289K	probably benign	Het
Xdh	C	T	17: 73,906,215	A847T	probably damaging	Het
Xndc1	G	A	7: 102,073,316	G63R	probably null	Het
Ythdc2	A	G	18: 44,885,240	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,793,663	K949N	probably damaging	Het
Zp3r	A	T	1: 130,598,912	Y185N	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
IGL02393:Slc25a25	APN	2	32417843	missense	probably benign	0.40
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGGGACAACATCTCAGTG -3'
(R):5'- GGCCAGCACATCTCCATTTTATG -3'

Sequencing Primer
(F):5'- GAGGGACAACATCTCAGTGTATCATC -3'
(R):5'- TTTATGGAAAATGGGGTATGGAGCC -3'

Posted On

2016-02-04