Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Slc25a3'

514872

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

044556-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6414 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

90952436-90959902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90958190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 50 (Q50P)

Ref Sequence

ENSEMBL: ENSMUSP00000129301 (fasta)

Gene Model

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

AlphaFold

Q8VEM8

Predicted Effect

probably benign
Transcript: ENSMUST00000076694

SMART Domains

Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904

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

possibly damaging
Transcript: ENSMUST00000163246
AA Change: Q50P

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129301
Gene: ENSMUSG00000061904
AA Change: Q50P

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

SMART Domains

Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904

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
AA Change: Q50P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: Q50P

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: ENSMUST00000172442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171960

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Clcc1	G	A	3: 108,584,167 (GRCm39)	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,305,178 (GRCm39)		probably benign	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Snta1	G	C	2: 154,219,987 (GRCm39)	T391S	possibly damaging	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp799	C	T	17: 33,039,259 (GRCm39)	V336M	probably damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	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
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
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'- GGTTTCCACACAGCTTGTTAGTAG -3'
(R):5'- CTGATTTGACAGTGACTTTCATGTC -3'

Sequencing Primer
(F):5'- CACACAGCTTGTTAGTAGCAGTC -3'
(R):5'- GTGGCTAAAGCTGCATAC -3'

Posted On

2018-05-04