Mutagenetix > Incidental Mutation

Incidental Mutation 'R5799:Slc25a3'

447407

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

043388-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90952436-90959902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90957903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 50 (Y50D)

Ref Sequence

ENSEMBL: ENSMUSP00000132480 (fasta)

Gene Model

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

AlphaFold

Q8VEM8

Predicted Effect

probably benign
Transcript: ENSMUST00000076694
AA Change: Y50D

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

SMART Domains

Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: Y50D

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

probably benign
Transcript: ENSMUST00000164505
AA Change: Y50D

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

SMART Domains

Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: Y50D

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

probably benign
Transcript: ENSMUST00000170810

SMART Domains

Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904

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

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

89% (51/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,668,908 (GRCm39)	Q92*	probably null	Het
Accsl	T	C	2: 93,694,748 (GRCm39)		probably null	Het
Ahnak2	T	C	12: 112,745,365 (GRCm39)		probably benign	Het
Alcam	T	C	16: 52,130,212 (GRCm39)	D46G	probably benign	Het
Asap2	T	C	12: 21,218,247 (GRCm39)	S57P	probably damaging	Het
Atg14	A	T	14: 47,784,752 (GRCm39)	V314D	possibly damaging	Het
C230029F24Rik	C	T	1: 49,377,307 (GRCm39)		noncoding transcript	Het
Calcr	A	T	6: 3,707,592 (GRCm39)	I236N	probably benign	Het
Cass4	G	A	2: 172,258,107 (GRCm39)	G35E	probably damaging	Het
Chmp6	T	C	11: 119,807,517 (GRCm39)	I120T	probably benign	Het
Col13a1	A	G	10: 61,684,919 (GRCm39)		probably benign	Het
Cstdc4	T	A	16: 36,004,631 (GRCm39)	M1K	probably null	Het
Ddhd2	T	A	8: 26,238,629 (GRCm39)	L328F	probably damaging	Het
Defa40	T	A	8: 21,740,359 (GRCm39)		probably null	Het
Dnmt3l	A	G	10: 77,887,860 (GRCm39)	D123G	possibly damaging	Het
Eea1	T	A	10: 95,838,810 (GRCm39)	V287E	possibly damaging	Het
Efcc1	A	G	6: 87,708,164 (GRCm39)	N97S	probably benign	Het
Exd1	A	G	2: 119,369,262 (GRCm39)	S118P	probably benign	Het
Ext2	G	T	2: 93,642,317 (GRCm39)	T184K	probably benign	Het
Fam186a	G	A	15: 99,864,705 (GRCm39)	Q42*	probably null	Het
Gbp2	A	T	3: 142,337,843 (GRCm39)	I320L	probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
H2-Q5	T	C	17: 35,613,115 (GRCm39)	M5T	unknown	Het
Jak3	C	T	8: 72,131,344 (GRCm39)	L70F	probably damaging	Het
Lhpp	G	A	7: 132,307,364 (GRCm39)	V254M	probably damaging	Het
Lig1	T	A	7: 13,030,184 (GRCm39)	V387E	possibly damaging	Het
Lipo3	T	C	19: 33,755,093 (GRCm39)		probably benign	Het
Lrrc8b	C	T	5: 105,629,208 (GRCm39)	S518L	probably benign	Het
Narf	T	C	11: 121,135,480 (GRCm39)	Y111H	probably damaging	Het
Ncf4	A	G	15: 78,135,177 (GRCm39)	K78R	probably benign	Het
Nrap	A	T	19: 56,330,601 (GRCm39)	C1118*	probably null	Het
Nubp2	A	G	17: 25,104,772 (GRCm39)	V23A	probably damaging	Het
Or4l1	A	T	14: 50,166,497 (GRCm39)	F168Y	probably damaging	Het
Or6c219	A	T	10: 129,781,780 (GRCm39)	D50E	possibly damaging	Het
Or8g55	T	C	9: 39,785,392 (GRCm39)	S274P	possibly damaging	Het
Pdzd7	G	A	19: 45,025,428 (GRCm39)	P356S	probably benign	Het
Rttn	T	C	18: 89,056,070 (GRCm39)	V984A	probably damaging	Het
Ryr3	A	G	2: 112,516,925 (GRCm39)	S3334P	probably damaging	Het
Senp7	G	A	16: 55,959,468 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	T	15: 96,592,970 (GRCm39)	S163T	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stam2	A	T	2: 52,610,922 (GRCm39)	C4*	probably null	Het
Taf1a	A	G	1: 183,177,272 (GRCm39)	D50G	possibly damaging	Het
Taf6l	A	T	19: 8,759,995 (GRCm39)	Y106N	possibly damaging	Het
Taf7l2	T	C	10: 115,948,674 (GRCm39)	E284G	probably damaging	Het
Tbx20	G	A	9: 24,636,816 (GRCm39)	Q424*	probably null	Het
Tex10	A	G	4: 48,433,295 (GRCm39)	V829A	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,474 (GRCm39)		probably benign	Het
Tnfsf10	G	T	3: 27,389,742 (GRCm39)	V268F	probably damaging	Het
Trrap	A	G	5: 144,767,755 (GRCm39)	T2571A	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
R1215:Slc25a3	UTSW	10	90,953,170 (GRCm39)	missense	possibly damaging	0.95
R4737:Slc25a3	UTSW	10	90,958,050 (GRCm39)	missense	possibly damaging	0.66
R5418:Slc25a3	UTSW	10	90,955,398 (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'- GCATTAGTAAGGTAAATCACATACACA -3'
(R):5'- AGAATGCAGGTTTGTGTTGC -3'

Sequencing Primer
(F):5'- AACCTGTCAACCTGAGTGCTATG -3'
(R):5'- GCATGCTGGACTAAAACGTTCTG -3'

Posted On

2016-12-15