Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00843:Slc25a54'

8462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a54

Ensembl Gene

ENSMUSG00000027880

Gene Name

solute carrier family 25, member 54

Synonyms

4930443G12Rik, SCaMC-1like

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

109080469-109116687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109112860 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 397 (T397S)

Ref Sequence

ENSEMBL: ENSMUSP00000029478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029478
AA Change: T397S

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: T397S

Domain	Start	End	E-Value	Type
EFh	23	51	4.28e0	SMART
EFh	59	87	3.82e0	SMART
EFh	90	118	4.12e-3	SMART
EFh	126	154	3.44e1	SMART
Pfam:Mito_carr	191	283	3.7e-25	PFAM
Pfam:Mito_carr	284	376	7.2e-24	PFAM
Pfam:Mito_carr	383	472	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159926

SMART Domains

Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880

Domain	Start	End	E-Value	Type
Blast:EFh	1	21	6e-9	BLAST
Pfam:Mito_carr	57	150	3.2e-26	PFAM
Pfam:Mito_carr	151	243	3.6e-25	PFAM
Pfam:Mito_carr	249	339	1.5e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,384,350		probably null	Het
Clcn2	T	C	16: 20,703,641	T772A	probably benign	Het
Cldn18	A	T	9: 99,698,821	F125I	probably benign	Het
Ehhadh	A	G	16: 21,762,629	S538P	possibly damaging	Het
Ets2	T	G	16: 95,709,793	F32V	probably benign	Het
F5	G	A	1: 164,211,791	R1990Q	probably benign	Het
Fetub	A	G	16: 22,929,629		probably benign	Het
Hecw1	C	T	13: 14,247,573	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240	M332T	probably benign	Het
Hmcn1	A	G	1: 150,610,713	I4314T	possibly damaging	Het
Impad1	T	C	4: 4,776,308		probably benign	Het
Lonrf2	C	A	1: 38,812,535		probably benign	Het
Lrrc9	T	C	12: 72,463,417	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,757,058	V1606A	possibly damaging	Het
Oog2	G	T	4: 144,195,172	L217F	probably damaging	Het
Plxnc1	T	C	10: 94,847,549	H791R	probably benign	Het
Prdm2	G	A	4: 143,134,314	S802L	probably damaging	Het
Prss32	T	A	17: 23,857,362	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,691,273	V1337E	probably benign	Het
Slc15a3	T	A	19: 10,853,263	M326K	probably null	Het
Slfn3	C	T	11: 83,213,431	T376M	probably damaging	Het
Stradb	T	A	1: 58,994,409	D410E	probably benign	Het
Tdh	T	C	14: 63,495,764	T178A	probably damaging	Het
Tspan12	T	A	6: 21,851,082		probably benign	Het
Ube2b	A	T	11: 51,995,375	D50E	probably benign	Het
Zranb1	A	C	7: 132,949,893	H117P	probably benign	Het

Other mutations in Slc25a54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02635:Slc25a54	APN	3	109112817	missense	possibly damaging	0.71
IGL02944:Slc25a54	APN	3	109080615	missense	probably benign	0.14
IGL02987:Slc25a54	APN	3	109116337	missense	probably benign
IGL03346:Slc25a54	APN	3	109085730	intron	probably benign
R0491:Slc25a54	UTSW	3	109102796	missense	probably damaging	1.00
R0520:Slc25a54	UTSW	3	109107230	splice site	probably benign
R0645:Slc25a54	UTSW	3	109112165	missense	possibly damaging	0.70
R1803:Slc25a54	UTSW	3	109102697	missense	probably benign
R1869:Slc25a54	UTSW	3	109080616	nonsense	probably null
R1870:Slc25a54	UTSW	3	109080616	nonsense	probably null
R3024:Slc25a54	UTSW	3	109080666	missense	probably damaging	1.00
R3763:Slc25a54	UTSW	3	109112054	missense	probably damaging	1.00
R3930:Slc25a54	UTSW	3	109116504	missense	probably benign	0.03
R3941:Slc25a54	UTSW	3	109112163	missense	probably damaging	1.00
R4346:Slc25a54	UTSW	3	109102739	missense	possibly damaging	0.52
R4347:Slc25a54	UTSW	3	109102739	missense	possibly damaging	0.52
R4445:Slc25a54	UTSW	3	109098668	missense	probably benign	0.00
R4735:Slc25a54	UTSW	3	109098607	missense	probably damaging	0.96
R4914:Slc25a54	UTSW	3	109111079	missense	probably benign	0.34
R4960:Slc25a54	UTSW	3	109112816	missense	possibly damaging	0.95
R5052:Slc25a54	UTSW	3	109102700	missense	probably benign	0.03
R5106:Slc25a54	UTSW	3	109112864	missense	probably benign	0.02
R5806:Slc25a54	UTSW	3	109080578	missense	probably benign
R5936:Slc25a54	UTSW	3	109098638	missense	possibly damaging	0.88
R6511:Slc25a54	UTSW	3	109094256	missense	possibly damaging	0.92
R6532:Slc25a54	UTSW	3	109112052	missense	probably damaging	1.00
R6879:Slc25a54	UTSW	3	109112834	missense	possibly damaging	0.94
R7139:Slc25a54	UTSW	3	109098589	missense	probably damaging	1.00
R7179:Slc25a54	UTSW	3	109107257	missense	probably benign	0.00
R7282:Slc25a54	UTSW	3	109116501	nonsense	probably null
R7336:Slc25a54	UTSW	3	109116435	missense	probably benign	0.00
R7355:Slc25a54	UTSW	3	109102769	missense	probably damaging	1.00
R7713:Slc25a54	UTSW	3	109102817	missense	probably damaging	0.99
R8061:Slc25a54	UTSW	3	109111045	missense	probably damaging	1.00
R8282:Slc25a54	UTSW	3	109098689	critical splice donor site	probably null
Z1176:Slc25a54	UTSW	3	109112118	frame shift	probably null
Z1177:Slc25a54	UTSW	3	109102797	missense	probably damaging	1.00

Posted On

2012-12-06