Mutagenetix > Incidental Mutation

Incidental Mutation 'R1426:Slc25a48'

250615

Institutional Source

Beutler Lab

Gene Symbol

Slc25a48

Ensembl Gene

ENSMUSG00000021509

Gene Name

solute carrier family 25, member 48

Synonyms

MMRRC Submission

039482-MU

Accession Numbers

Essential gene?

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

Stock #

R1426 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 56596804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

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

AlphaFold

Q8BW66

Predicted Effect

probably benign
Transcript: ENSMUST00000021971

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509

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

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,361 (GRCm39)	V214E	probably damaging	Het
Adh1	A	G	3: 137,992,556 (GRCm39)	D224G	probably damaging	Het
Arhgap28	C	A	17: 68,164,459 (GRCm39)	Q554H	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brat1	G	A	5: 140,703,768 (GRCm39)	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,332,981 (GRCm39)		probably benign	Het
Ccdc162	T	C	10: 41,429,178 (GRCm39)	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 114,969,988 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,115,654 (GRCm39)		probably benign	Het
Eif2s1	A	G	12: 78,927,942 (GRCm39)	D206G	probably benign	Het
Elovl7	T	A	13: 108,419,028 (GRCm39)	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,846,381 (GRCm39)	E76G	probably damaging	Het
Hspa14	A	T	2: 3,509,858 (GRCm39)	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,560,518 (GRCm39)	C260S	possibly damaging	Het
Lama3	G	T	18: 12,614,155 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,728 (GRCm39)		probably benign	Het
Lrrc45	A	T	11: 120,610,839 (GRCm39)	Q525L	probably benign	Het
Lss	T	C	10: 76,372,137 (GRCm39)	I164T	probably damaging	Het
Myh11	T	A	16: 14,023,795 (GRCm39)	K1527*	probably null	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ncoa1	T	A	12: 4,320,737 (GRCm39)		probably benign	Het
Or5an1c	G	T	19: 12,218,546 (GRCm39)	Q160K	possibly damaging	Het
Or6c38	A	T	10: 128,929,559 (GRCm39)	C95S	probably damaging	Het
Pafah1b3	T	C	7: 24,996,560 (GRCm39)	E41G	possibly damaging	Het
Pnma8a	C	T	7: 16,694,909 (GRCm39)	P255S	possibly damaging	Het
Prkar2b	A	T	12: 32,012,987 (GRCm39)		probably benign	Het
Rbck1	A	T	2: 152,169,161 (GRCm39)		probably benign	Het
Rcor2	A	G	19: 7,248,395 (GRCm39)	S137G	possibly damaging	Het
Slc7a4	A	G	16: 17,391,808 (GRCm39)		probably null	Het
Tert	T	C	13: 73,790,472 (GRCm39)		probably benign	Het
Traf7	A	T	17: 24,730,655 (GRCm39)	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,429,236 (GRCm39)	F284L	probably damaging	Het
Xpc	A	G	6: 91,470,220 (GRCm39)	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968 (GRCm39)	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,802,013 (GRCm39)	V88A	probably benign	Het
Zkscan7	T	C	9: 122,724,228 (GRCm39)	I399T	probably benign	Het
Zyg11b	G	A	4: 108,108,009 (GRCm39)	R466C	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
IGL01746:Slc25a48	APN	13	56,618,166 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGGCTGTGTTCTGGTGAGAAAG -3'
(R):5'- CCATCTGTTGCCGTGATGTAGGAG -3'

Sequencing Primer
(F):5'- tgggggtggggaatgag -3'
(R):5'- TAGGAGTGTGGCCTGGTCC -3'

Posted On

2014-11-26