Mutagenetix > Incidental Mutations

Incidental Mutation 'R4401:Cyp2c54'

326649

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

041132-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4401 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40072171 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 122 (N122S)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048959]

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: N122S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: N122S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:p450	30	487	2.2e-159	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,702,390	I454V	possibly damaging	Het
Acvr2a	A	G	2: 48,899,702	T486A	probably benign	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Atad2b	T	A	12: 4,940,145	C157S	probably damaging	Het
C530008M17Rik	G	A	5: 76,848,916	V74I	probably damaging	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Cct2	A	G	10: 117,057,809	I287T	possibly damaging	Het
Cntn4	A	G	6: 106,489,664	T176A	possibly damaging	Het
Cytip	T	C	2: 58,133,935	D291G	probably benign	Het
Eef1d	C	T	15: 75,902,920	V213I	probably benign	Het
Fnbp4	A	G	2: 90,746,758	T145A	possibly damaging	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gm11937	C	T	11: 99,610,075	V39M	probably damaging	Het
Gm6712	C	T	17: 17,318,104		noncoding transcript	Het
Hira	A	G	16: 18,925,720	I352V	probably damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lpcat2	T	C	8: 92,873,055	V217A	possibly damaging	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Olfr1277	A	G	2: 111,269,833	F178S	probably damaging	Het
Olfr447	G	T	6: 42,912,326	E268*	probably null	Het
Olfr561	C	T	7: 102,774,799	R92*	probably null	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Pqlc2	T	C	4: 139,306,543	I22V	probably benign	Het
Rfng	A	T	11: 120,782,480	V245E	possibly damaging	Het
Rpf2	A	G	10: 40,236,128	V104A	possibly damaging	Het
Rps6kc1	G	T	1: 190,799,958	H616N	probably benign	Het
Slc9b2	T	C	3: 135,336,544	V528A	probably benign	Het
Srgap1	T	C	10: 121,804,921		probably null	Het
Trrap	A	G	5: 144,843,318	T3240A	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Zfhx4	C	A	3: 5,403,345	Y2854*	probably null	Het
Zfp986	C	T	4: 145,898,943	R58C	probably benign	Het

Other mutations in Cyp2c54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Cyp2c54	APN	19	40072078	missense	probably damaging	1.00
IGL02694:Cyp2c54	APN	19	40047543	missense	possibly damaging	0.55
IGL03170:Cyp2c54	APN	19	40072365	critical splice donor site	probably null
IGL03175:Cyp2c54	APN	19	40070228	missense	probably benign	0.00
R0097:Cyp2c54	UTSW	19	40047658	splice site	probably benign
R0097:Cyp2c54	UTSW	19	40047659	splice site	probably benign
R0391:Cyp2c54	UTSW	19	40072169	missense	possibly damaging	0.61
R0581:Cyp2c54	UTSW	19	40047555	missense	probably benign	0.23
R0787:Cyp2c54	UTSW	19	40047635	missense	probably benign	0.12
R1253:Cyp2c54	UTSW	19	40046185	missense	probably damaging	1.00
R1481:Cyp2c54	UTSW	19	40047588	missense	probably benign	0.30
R1604:Cyp2c54	UTSW	19	40070343	missense	probably benign	0.01
R3624:Cyp2c54	UTSW	19	40070244	missense	probably benign	0.21
R3871:Cyp2c54	UTSW	19	40072423	missense	probably benign	0.37
R3983:Cyp2c54	UTSW	19	40046255	missense	possibly damaging	0.49
R4416:Cyp2c54	UTSW	19	40038259	missense	probably benign	0.04
R4962:Cyp2c54	UTSW	19	40072141	missense	possibly damaging	0.90
R5203:Cyp2c54	UTSW	19	40072474	missense	probably damaging	1.00
R5634:Cyp2c54	UTSW	19	40072414	missense	possibly damaging	0.84
R6083:Cyp2c54	UTSW	19	40073762	missense	probably benign	0.20
R6182:Cyp2c54	UTSW	19	40047561	missense	probably benign
R6754:Cyp2c54	UTSW	19	40071560	missense	probably damaging	1.00
R6901:Cyp2c54	UTSW	19	40070259	missense	probably damaging	1.00
R6948:Cyp2c54	UTSW	19	40046192	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGACAATGCTTTGGAACACTGAC -3'
(R):5'- GACCATGGGGATGTCTTTGC -3'

Sequencing Primer
(F):5'- TGCTTTGGAACACTGACATGAGAC -3'
(R):5'- GGAAGGCTCCCAGTTTTTGATAAAGC -3'

Posted On

2015-07-07