Mutagenetix > Incidental Mutation

Incidental Mutation 'R1215:Slc25a3'

99588

Institutional Source

Beutler Lab

Gene Symbol

Slc25a3

Ensembl Gene

ENSMUSG00000061904

Gene Name

solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3

Synonyms

Phc, 5730556H19Rik

MMRRC Submission

039284-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1215 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

90952436-90959902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90953170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 274 (A274V)

Ref Sequence

ENSEMBL: ENSMUSP00000127098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076694] [ENSMUST00000163246] [ENSMUST00000164505] [ENSMUST00000170810]

AlphaFold

Q8VEM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076694
AA Change: A273V

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: A273V

Domain	Start	End	E-Value	Type
low complexity region	29	46	N/A	INTRINSIC
Pfam:Mito_carr	58	147	3.9e-23	PFAM
Pfam:Mito_carr	156	243	4.8e-19	PFAM
Pfam:Mito_carr	254	338	3.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103979

Predicted Effect

probably benign
Transcript: ENSMUST00000163246

SMART Domains

Protein: ENSMUSP00000129301
Gene: ENSMUSG00000061904

Domain	Start	End	E-Value	Type
low complexity region	29	46	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164505
AA Change: A273V

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: A273V

Domain	Start	End	E-Value	Type
low complexity region	29	46	N/A	INTRINSIC
Pfam:Mito_carr	58	147	3.9e-23	PFAM
Pfam:Mito_carr	156	243	4.8e-19	PFAM
Pfam:Mito_carr	254	338	3.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169339

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170810
AA Change: A274V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: A274V

Domain	Start	End	E-Value	Type
low complexity region	29	46	N/A	INTRINSIC
Pfam:Mito_carr	59	147	8.6e-21	PFAM
Pfam:Mito_carr	157	245	4.4e-19	PFAM
Pfam:Mito_carr	255	339	2.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172442

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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 catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Art5	C	T	7: 101,747,116 (GRCm39)	R123H	probably damaging	Het
Azin2	A	G	4: 128,843,489 (GRCm39)	S66P	probably damaging	Het
Cep295	T	C	9: 15,239,178 (GRCm39)	E1865G	probably benign	Het
Ces1a	A	G	8: 93,759,318 (GRCm39)	C273R	probably damaging	Het
Cfap44	A	G	16: 44,239,666 (GRCm39)	Y571C	probably damaging	Het
Cntfr	C	A	4: 41,662,064 (GRCm39)	W226L	probably damaging	Het
Csmd3	A	T	15: 47,868,227 (GRCm39)		probably null	Het
Cyp2a4	C	T	7: 26,014,226 (GRCm39)	P468S	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E130308A19Rik	T	A	4: 59,690,743 (GRCm39)	D192E	probably benign	Het
Fam184b	C	T	5: 45,741,520 (GRCm39)	R237H	probably damaging	Het
Fmn1	T	A	2: 113,523,375 (GRCm39)	Y1247*	probably null	Het
Grb14	T	C	2: 64,747,608 (GRCm39)	S18G	probably benign	Het
Hs2st1	G	A	3: 144,170,902 (GRCm39)	T90I	possibly damaging	Het
Mcc	A	T	18: 44,601,561 (GRCm39)	N589K	possibly damaging	Het
Mff	T	A	1: 82,719,609 (GRCm39)	S196T	probably benign	Het
Nyap1	C	T	5: 137,733,395 (GRCm39)	W546*	probably null	Het
Or13p10	A	T	4: 118,523,496 (GRCm39)	M261L	possibly damaging	Het
Ppp2r3d	A	G	9: 101,089,883 (GRCm39)	S147P	probably benign	Het
Rsph14	T	C	10: 74,860,898 (GRCm39)	H134R	probably benign	Het
Slc43a2	T	A	11: 75,453,688 (GRCm39)	W229R	probably damaging	Het
Slco4c1	C	A	1: 96,756,596 (GRCm39)	L575F	probably damaging	Het
Smyd4	T	A	11: 75,281,121 (GRCm39)	I198N	possibly damaging	Het
Trpm6	A	G	19: 18,773,862 (GRCm39)	D413G	probably damaging	Het
Ush2a	A	G	1: 188,689,479 (GRCm39)	T33A	possibly damaging	Het
Zfp871	A	T	17: 32,994,946 (GRCm39)	D57E	possibly damaging	Het
Zfyve9	T	C	4: 108,507,426 (GRCm39)	Q1176R	probably benign	Het

Other mutations in Slc25a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Slc25a3	APN	10	90,953,987 (GRCm39)	missense	probably damaging	0.96
IGL02193:Slc25a3	APN	10	90,953,977 (GRCm39)	missense	probably benign	0.01
R4737:Slc25a3	UTSW	10	90,958,050 (GRCm39)	missense	possibly damaging	0.66
R5418:Slc25a3	UTSW	10	90,955,398 (GRCm39)	missense	probably benign
R5799:Slc25a3	UTSW	10	90,957,903 (GRCm39)	missense	probably benign
R6228:Slc25a3	UTSW	10	90,958,090 (GRCm39)	missense	probably damaging	0.98
R6269:Slc25a3	UTSW	10	90,952,963 (GRCm39)	nonsense	probably null
R6414:Slc25a3	UTSW	10	90,958,190 (GRCm39)	missense	possibly damaging	0.66
R6866:Slc25a3	UTSW	10	90,955,567 (GRCm39)	missense	probably damaging	0.99
R7404:Slc25a3	UTSW	10	90,952,902 (GRCm39)	missense	possibly damaging	0.69
R7633:Slc25a3	UTSW	10	90,953,904 (GRCm39)	critical splice donor site	probably null
R8222:Slc25a3	UTSW	10	90,954,053 (GRCm39)	missense	probably damaging	1.00
R8751:Slc25a3	UTSW	10	90,952,960 (GRCm39)	missense	probably benign	0.06
Z1176:Slc25a3	UTSW	10	90,959,473 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACACCTGGTTCAGAGAGGAGAC -3'
(R):5'- AGATTTGGGAGCACTTTTATCTGCCTG -3'

Sequencing Primer
(F):5'- AGACATGAGTGCCCGAGC -3'
(R):5'- ccttttctgatctttgggcatac -3'

Posted On

2014-01-15