Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01746:Slc25a48'

153026

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 #

IGL01746

Quality Score

Status

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56618166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 268 (F268I)

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

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

AlphaFold

Q8BW66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021971
AA Change: F268I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509
AA Change: F268I

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,982,276 (GRCm39)	M1187V	possibly damaging	Het
Ctsm	T	C	13: 61,687,630 (GRCm39)	E76G	probably benign	Het
Ctsm	T	C	13: 61,686,717 (GRCm39)		probably benign	Het
Egfl8	T	C	17: 34,833,890 (GRCm39)	T63A	probably damaging	Het
Fat4	T	A	3: 39,045,880 (GRCm39)	C3966*	probably null	Het
Fsd2	T	C	7: 81,202,755 (GRCm39)	T275A	probably benign	Het
Fyb2	A	T	4: 104,802,404 (GRCm39)	H102L	probably benign	Het
Galnt9	T	C	5: 110,736,188 (GRCm39)	I168T	probably damaging	Het
Hc	A	G	2: 34,947,338 (GRCm39)	Y59H	probably damaging	Het
Khnyn	T	C	14: 56,124,439 (GRCm39)	V231A	probably benign	Het
Larp4b	T	A	13: 9,208,160 (GRCm39)	V378E	probably damaging	Het
Lbx1	A	T	19: 45,222,214 (GRCm39)	S270T	possibly damaging	Het
Mcm6	G	A	1: 128,281,261 (GRCm39)	R101*	probably null	Het
Mcph1	T	C	8: 18,721,143 (GRCm39)	L657P	probably damaging	Het
Ndst2	G	T	14: 20,779,482 (GRCm39)	P253T	probably benign	Het
Nek4	G	A	14: 30,699,541 (GRCm39)		probably null	Het
Nsd1	T	A	13: 55,424,328 (GRCm39)		probably null	Het
Oc90	A	G	15: 65,761,250 (GRCm39)		probably benign	Het
Plcl2	T	A	17: 50,914,724 (GRCm39)	S578T	probably benign	Het
Ranbp3l	T	A	15: 9,063,167 (GRCm39)	C325*	probably null	Het
Rps19bp1	T	C	15: 80,145,198 (GRCm39)	Y140C	probably damaging	Het
Sec62	T	A	3: 30,868,395 (GRCm39)	I208K	probably benign	Het
Slc35e3	T	C	10: 117,580,807 (GRCm39)	T166A	possibly damaging	Het
Tmem253	G	A	14: 52,254,614 (GRCm39)	W23*	probably null	Het
Tmem97	T	C	11: 78,433,586 (GRCm39)	Y103C	probably damaging	Het
Traf6	A	G	2: 101,527,237 (GRCm39)	E329G	possibly damaging	Het
Ttll12	A	G	15: 83,462,877 (GRCm39)	F530L	probably damaging	Het
Ugt3a1	C	T	15: 9,361,754 (GRCm39)	P177S	probably damaging	Het
Veph1	T	C	3: 66,065,508 (GRCm39)	T520A	probably benign	Het
Vmn2r98	T	A	17: 19,286,713 (GRCm39)	Y404N	probably damaging	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
IGL03209:Slc25a48	APN	13	56,618,272 (GRCm39)	missense	probably benign	0.00
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

2014-02-04