Mutagenetix > Incidental Mutations

Incidental Mutation 'R0592:Slc25a47'

56033

Institutional Source

Beutler Lab

Gene Symbol

Slc25a47

Ensembl Gene

ENSMUSG00000048856

Gene Name

solute carrier family 25, member 47

Synonyms

MMRRC Submission

038782-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0592 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

108836046-108856815 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108854258 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 63 (V63M)

Ref Sequence

ENSEMBL: ENSMUSP00000152260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057026] [ENSMUST00000221080]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057026
AA Change: V63M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050329
Gene: ENSMUSG00000048856
AA Change: V63M

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	84	1.2e-19	PFAM
Pfam:Mito_carr	94	212	1.5e-19	PFAM
Pfam:Mito_carr	215	308	6.1e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221080
AA Change: V63M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223296

Meta Mutation Damage Score

0.2150

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
Bbs7	A	T	3: 36,610,297	V53D	probably benign	Het
Bglap	T	A	3: 88,383,655	I90F	probably benign	Het
C2cd4b	G	A	9: 67,760,691	R323H	probably damaging	Het
Cdh5	T	A	8: 104,130,902		probably null	Het
Cdh8	T	A	8: 99,279,478	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,456,612	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 118,902,139	E381G	probably damaging	Het
Elmod1	A	G	9: 53,926,106		probably benign	Het
Exosc10	T	C	4: 148,581,113	S811P	probably benign	Het
Fhl3	A	G	4: 124,705,677	Y15C	probably benign	Het
Gstz1	G	A	12: 87,163,721	S126N	probably benign	Het
Hey2	C	A	10: 30,833,957	A267S	probably benign	Het
Iqce	A	T	5: 140,686,107		probably null	Het
Katnal2	A	T	18: 77,002,560		probably null	Het
Kdm2b	G	A	5: 122,961,134		probably benign	Het
Mov10l1	A	G	15: 88,998,766		probably null	Het
Numa1	A	G	7: 102,013,897	T724A	probably benign	Het
Oas3	A	G	5: 120,771,149	F244S	probably damaging	Het
Olfr1472	T	C	19: 13,453,705	I271V	probably benign	Het
Olfr715	G	A	7: 107,129,343	L17F	probably benign	Het
Ppil2	A	G	16: 17,107,219	S30P	probably benign	Het
Rab37	T	G	11: 115,160,523		probably benign	Het
Riox2	T	C	16: 59,489,579		probably benign	Het
Ryr3	A	G	2: 112,678,481	S3358P	probably damaging	Het
Sash1	T	A	10: 8,729,782	H948L	probably benign	Het
Serpinb6e	T	A	13: 33,841,074	N78I	probably damaging	Het
Slc9b1	A	T	3: 135,394,074		probably benign	Het
Strip2	T	A	6: 29,931,210	S387T	probably benign	Het
Tcaf3	T	C	6: 42,596,843	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Trmu	T	C	15: 85,896,826		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn2r116	C	T	17: 23,386,915	T267I	probably damaging	Het
Whrn	C	A	4: 63,415,567	A450S	probably damaging	Het

Other mutations in Slc25a47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Slc25a47	APN	12	108855388	missense	probably benign	0.00
IGL01138:Slc25a47	APN	12	108856022	missense	probably damaging	1.00
IGL01545:Slc25a47	APN	12	108854216	missense	probably benign	0.06
IGL01978:Slc25a47	APN	12	108851190	missense	probably damaging	0.96
R4783:Slc25a47	UTSW	12	108855334	missense	probably damaging	1.00
R5549:Slc25a47	UTSW	12	108856217	makesense	probably null
R6085:Slc25a47	UTSW	12	108854328	missense	probably benign	0.19
R6378:Slc25a47	UTSW	12	108856143	missense	probably damaging	1.00
R6612:Slc25a47	UTSW	12	108855978	missense	probably benign	0.02
R7237:Slc25a47	UTSW	12	108855460	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTAGCCTGTGGACACAGTAAC -3'
(R):5'- TGATGATCCAGACTCTCTGGGAGC -3'

Sequencing Primer
(F):5'- AGCTGAATATCACGCTGGCTC -3'
(R):5'- ACTCTCTGGGAGCCTCCAAC -3'

Posted On

2013-07-11