Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Slc25a48'

201444

Institutional Source

Beutler Lab

Gene Symbol

Slc25a48

Ensembl Gene

ENSMUSG00000021509

Gene Name

solute carrier family 25, member 48

Synonyms

MMRRC Submission

038359-MU

Accession Numbers

Essential gene?

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

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56599024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 118 (V118A)

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

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

AlphaFold

Q8BW66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021971
AA Change: V118A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509
AA Change: V118A

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

Meta Mutation Damage Score

0.2049

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 92.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,073,708 (GRCm39)	T1448A	probably damaging	Het
Aldoart2	G	T	12: 55,612,233 (GRCm39)	E53*	probably null	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arpc1a	C	T	5: 145,028,054 (GRCm39)	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Chd2	A	T	7: 73,134,282 (GRCm39)	S688R	probably damaging	Het
Crispld1	A	G	1: 17,823,212 (GRCm39)	T398A	possibly damaging	Het
Ctbp2	A	C	7: 132,591,788 (GRCm39)	V906G	possibly damaging	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Efcab3	T	C	11: 104,611,648 (GRCm39)	S497P	probably benign	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,113,254 (GRCm39)	R9H	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Kdm3b	C	T	18: 34,957,827 (GRCm39)	T1064I	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,504 (GRCm39)	K241*	probably null	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Ppil1	A	T	17: 29,471,230 (GRCm39)	F92I	probably damaging	Het
Ppp1r9b	T	G	11: 94,892,046 (GRCm39)	F154V	probably damaging	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
Selenbp2	T	C	3: 94,610,816 (GRCm39)	V294A	probably benign	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Trim67	T	C	8: 125,521,307 (GRCm39)	V223A	probably damaging	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Vmn2r59	A	G	7: 41,695,725 (GRCm39)	L229S	probably damaging	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCAGCATCGCCATCTATAACTC -3'
(R):5'- TGTCTCCTCCAGCACTCAAGTCAG -3'

Sequencing Primer
(F):5'- CCATCTATAACTCGGTGGTGTTC -3'
(R):5'- GAAAATGAGATGCTCCCTGTG -3'

Posted On

2014-06-10