Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Slc25a25'

176771

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

039648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32304499-32341457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32310391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 123 (E123K)

Ref Sequence

ENSEMBL: ENSMUSP00000115617 (fasta)

Gene Model

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

AlphaFold

A2ASZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028160
AA Change: E183K

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

SMART Domains

Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: E183K

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: E170K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: E170K

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: E138K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: E138K

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

possibly damaging
Transcript: ENSMUST00000113308
AA Change: E158K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: E158K

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

possibly damaging
Transcript: ENSMUST00000113310
AA Change: E171K

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: E171K

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

SMART Domains

Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819
AA Change: E134K

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: ENSMUST00000153886
AA Change: E35K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141486
Gene: ENSMUSG00000026819
AA Change: E35K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136361
AA Change: E123K

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

SMART Domains

Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: E123K

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: ENSMUST00000153782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143092

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Slc25a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Slc25a25	APN	2	32,309,172 (GRCm39)	missense	probably benign	0.04
IGL01431:Slc25a25	APN	2	32,309,103 (GRCm39)	missense	probably damaging	1.00
IGL02211:Slc25a25	APN	2	32,307,452 (GRCm39)	missense	probably damaging	1.00
IGL02393:Slc25a25	APN	2	32,307,855 (GRCm39)	missense	probably benign	0.40
R0385:Slc25a25	UTSW	2	32,307,834 (GRCm39)	missense	probably damaging	0.99
R1208:Slc25a25	UTSW	2	32,307,437 (GRCm39)	missense	probably benign	0.11
R1208:Slc25a25	UTSW	2	32,307,437 (GRCm39)	missense	probably benign	0.11
R1960:Slc25a25	UTSW	2	32,310,663 (GRCm39)	splice site	probably null
R2405:Slc25a25	UTSW	2	32,307,731 (GRCm39)	splice site	probably null
R3749:Slc25a25	UTSW	2	32,310,392 (GRCm39)	missense	probably benign	0.21
R4446:Slc25a25	UTSW	2	32,320,621 (GRCm39)	missense	probably benign	0.00
R4815:Slc25a25	UTSW	2	32,310,422 (GRCm39)	missense	probably damaging	1.00
R5245:Slc25a25	UTSW	2	32,311,340 (GRCm39)	nonsense	probably null
R6884:Slc25a25	UTSW	2	32,310,674 (GRCm39)	missense	probably benign	0.34
R7144:Slc25a25	UTSW	2	32,309,178 (GRCm39)	missense	probably damaging	1.00
R7210:Slc25a25	UTSW	2	32,310,408 (GRCm39)	missense	possibly damaging	0.89
R7255:Slc25a25	UTSW	2	32,311,384 (GRCm39)	missense	possibly damaging	0.60
R7667:Slc25a25	UTSW	2	32,341,221 (GRCm39)	missense	probably benign	0.00
R7893:Slc25a25	UTSW	2	32,341,177 (GRCm39)	nonsense	probably null
R8031:Slc25a25	UTSW	2	32,311,517 (GRCm39)	missense	probably damaging	0.97
R8550:Slc25a25	UTSW	2	32,306,205 (GRCm39)	missense	probably damaging	1.00
R9076:Slc25a25	UTSW	2	32,309,175 (GRCm39)	missense	probably damaging	1.00
R9255:Slc25a25	UTSW	2	32,310,391 (GRCm39)	missense	probably damaging	1.00
X0021:Slc25a25	UTSW	2	32,311,526 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTGTATCATCAAGACCGACCCC -3'
(R):5'- GTGTGTGCTTGCTTTACTAACCTGC -3'

Sequencing Primer
(F):5'- AAGACCGACcccccacc -3'
(R):5'- GGTATGGAGCCACCTTACTC -3'

Posted On

2014-04-24