Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03209:Slc25a48'

413234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a48

Ensembl Gene

ENSMUSG00000021509

Gene Name

solute carrier family 25, member 48

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56618272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021971]

AlphaFold

Q8BW66

Predicted Effect

probably benign
Transcript: ENSMUST00000021971
AA Change: V303A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509
AA Change: V303A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	3	91	5.3e-20	PFAM
Pfam:Mito_carr	101	204	3.3e-17	PFAM
Pfam:Mito_carr	208	301	1.3e-23	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,882,973 (GRCm39)	A841V	probably benign	Het
Alms1	A	G	6: 85,576,955 (GRCm39)		probably benign	Het
Arc	A	T	15: 74,543,833 (GRCm39)	L130Q	probably damaging	Het
Arhgap28	C	T	17: 68,175,951 (GRCm39)	V383I	probably damaging	Het
Atf6	T	C	1: 170,662,463 (GRCm39)	S266G	probably benign	Het
Cd59b	A	G	2: 103,914,905 (GRCm39)	E101G	probably benign	Het
Cdc26	T	C	4: 62,313,251 (GRCm39)	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,360,937 (GRCm39)	D103G	probably null	Het
Crispld2	C	A	8: 120,757,837 (GRCm39)	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,154,195 (GRCm39)	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,725,773 (GRCm39)		probably benign	Het
Fbxw2	T	C	2: 34,712,675 (GRCm39)	R129G	probably damaging	Het
Fgd3	T	C	13: 49,439,294 (GRCm39)	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 79,888,847 (GRCm39)	T293A	probably damaging	Het
Hspa12a	T	G	19: 58,810,493 (GRCm39)		probably null	Het
Ier5l	G	T	2: 30,363,067 (GRCm39)	D319E	possibly damaging	Het
Iigp1c	T	A	18: 60,379,143 (GRCm39)	I226N	probably damaging	Het
Ikzf1	T	C	11: 11,650,226 (GRCm39)	V3A	probably benign	Het
Itga2	T	C	13: 115,017,168 (GRCm39)	N180D	probably damaging	Het
Lipt1	T	C	1: 37,914,150 (GRCm39)	S69P	probably damaging	Het
Lvrn	A	G	18: 47,022,565 (GRCm39)	I734V	probably benign	Het
Man2c1	A	G	9: 57,049,114 (GRCm39)	T871A	probably benign	Het
Ndufs1	A	T	1: 63,203,896 (GRCm39)	C129S	probably damaging	Het
Neb	A	T	2: 52,180,831 (GRCm39)	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831 (GRCm38)	Y362*	probably null	Het
Or2h2c	A	T	17: 37,422,413 (GRCm39)	S154T	probably benign	Het
Or5ak23	A	T	2: 85,244,723 (GRCm39)	S167T	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Plxnd1	A	T	6: 115,939,318 (GRCm39)	M1502K	probably damaging	Het
Sccpdh	T	C	1: 179,514,238 (GRCm39)	V429A	possibly damaging	Het
Sult2a6	T	C	7: 13,959,897 (GRCm39)	D212G	probably benign	Het
Tep1	A	T	14: 51,078,160 (GRCm39)		probably benign	Het
Tmem65	A	G	15: 58,656,751 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,002,740 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,300,575 (GRCm39)	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351 (GRCm39)	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,667,238 (GRCm39)		probably null	Het
Zfhx4	A	T	3: 5,466,231 (GRCm39)	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	Het

Other mutations in Slc25a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Slc25a48	APN	13	56,612,758 (GRCm39)	splice site	probably benign
IGL01746:Slc25a48	APN	13	56,618,166 (GRCm39)	missense	probably damaging	0.99
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0550:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably benign	0.03
R1397:Slc25a48	UTSW	13	56,612,864 (GRCm39)	missense	probably damaging	0.98
R1426:Slc25a48	UTSW	13	56,596,804 (GRCm39)	splice site	probably benign
R1621:Slc25a48	UTSW	13	56,618,283 (GRCm39)	makesense	probably null
R1937:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably damaging	0.99
R4710:Slc25a48	UTSW	13	56,611,379 (GRCm39)	missense	probably damaging	0.97
R4735:Slc25a48	UTSW	13	56,596,887 (GRCm39)	splice site	probably null
R6107:Slc25a48	UTSW	13	56,612,891 (GRCm39)	missense	probably damaging	1.00
R7960:Slc25a48	UTSW	13	56,611,411 (GRCm39)	missense	probably damaging	0.99
R8695:Slc25a48	UTSW	13	56,612,825 (GRCm39)	missense	probably damaging	1.00
R8939:Slc25a48	UTSW	13	56,611,519 (GRCm39)	missense	probably damaging	0.98
R9278:Slc25a48	UTSW	13	56,611,552 (GRCm39)	missense	probably benign
Z1176:Slc25a48	UTSW	13	56,598,987 (GRCm39)	missense	possibly damaging	0.50

Posted On

2016-08-02