Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Slc25a25'

31204

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

038591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32304499-32341457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32307834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 254 (I254F)

Ref Sequence

ENSEMBL: ENSMUSP00000108933 (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: I279F

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: I279F

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: I266F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: I266F

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

possibly damaging
Transcript: ENSMUST00000113307
AA Change: I234F

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: I234F

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: I254F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: I254F

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: I267F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: I267F

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

possibly damaging
Transcript: ENSMUST00000136361
AA Change: I219F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: I219F

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

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

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
Atn1	G	T	6: 124,720,334 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dkk3	A	C	7: 111,757,430 (GRCm39)	M58R	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mcm10	T	C	2: 5,008,965 (GRCm39)	K335E	possibly damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc1a3	C	T	15: 8,668,619 (GRCm39)	V449I	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Tpcn2	A	G	7: 144,830,911 (GRCm39)	Y145H	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	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
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
R1611:Slc25a25	UTSW	2	32,310,391 (GRCm39)	missense	probably damaging	1.00
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'- GACCGTGAAGCTATCTATGCTGTCC -3'
(R):5'- TGAAGAGGTTCTCCAAAACGGCTCC -3'

Sequencing Primer
(F):5'- TCTATGCTGTCCCCAAATGGAAG -3'
(R):5'- TCCTCCCAGGGTAGACTGTG -3'

Posted On

2013-04-24