Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02694:Cyp2c54'

303846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02694

Quality Score

Status

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40047543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 308 (Y308H)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048959
AA Change: Y308H

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: Y308H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	G	7: 98,216,877	I213T	probably benign	Het
Alox8	T	A	11: 69,186,629	T432S	probably damaging	Het
Col4a3	T	C	1: 82,710,794		probably benign	Het
Dscam	A	G	16: 96,593,276	V1942A	probably benign	Het
F11	T	C	8: 45,252,159	Y115C	probably damaging	Het
Fam13b	A	G	18: 34,451,206		probably null	Het
Gm4778	A	G	3: 94,266,152	M152V	probably benign	Het
Gykl1	A	G	18: 52,694,185	H155R	probably benign	Het
Lmo7	T	A	14: 101,887,170	V355D	probably damaging	Het
Lrtm2	T	A	6: 119,320,885	D65V	possibly damaging	Het
Ly6g6f	C	T	17: 35,081,168	V235M	possibly damaging	Het
Mlxipl	G	A	5: 135,124,018		probably null	Het
Olfr294	C	T	7: 86,616,310	V112I	probably benign	Het
Olfr53	A	G	7: 140,652,180	N67S	probably damaging	Het
Olfr736	A	G	14: 50,392,800	I15V	probably benign	Het
Ppp2r1a	A	G	17: 20,951,440		probably benign	Het
Psmb2	A	G	4: 126,709,558	N193S	probably benign	Het
Rassf2	A	T	2: 132,009,721	Y34N	possibly damaging	Het
Ryr2	A	G	13: 11,605,189	F3841L	probably damaging	Het
Skint2	A	G	4: 112,616,595		probably benign	Het
Spdl1	T	C	11: 34,813,621	I462V	probably benign	Het
Tlk2	A	G	11: 105,221,235	E138G	probably benign	Het
Vmn1r89	A	G	7: 13,220,129	E196G	probably benign	Het
Zfp142	A	G	1: 74,570,148	L1496P	probably damaging	Het
Zfp689	T	C	7: 127,448,401	D94G	possibly damaging	Het
Zfp944	A	G	17: 22,339,918	V116A	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
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
R4401:Cyp2c54	UTSW	19	40072171	missense	probably benign	0.04
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
R7215:Cyp2c54	UTSW	19	40046182	missense	probably damaging	1.00
R7244:Cyp2c54	UTSW	19	40047509	missense	probably damaging	1.00
R7278:Cyp2c54	UTSW	19	40070253	nonsense	probably null
R7535:Cyp2c54	UTSW	19	40070272	missense	probably benign
R7838:Cyp2c54	UTSW	19	40070244	missense	probably benign	0.21
R8039:Cyp2c54	UTSW	19	40073732	frame shift	probably null
R8275:Cyp2c54	UTSW	19	40038305	missense	probably benign	0.00
R8340:Cyp2c54	UTSW	19	40072387	missense	possibly damaging	0.94
R8367:Cyp2c54	UTSW	19	40073681	missense	probably damaging	0.99
R8477:Cyp2c54	UTSW	19	40070264	missense	probably benign	0.43
R8487:Cyp2c54	UTSW	19	40071546	missense	probably damaging	1.00
R8519:Cyp2c54	UTSW	19	40038413	missense	probably damaging	0.99
R8534:Cyp2c54	UTSW	19	40047586	missense	probably damaging	0.99
R8858:Cyp2c54	UTSW	19	40073783	missense	probably benign	0.00
R9215:Cyp2c54	UTSW	19	40047506	missense	possibly damaging	0.52
R9236:Cyp2c54	UTSW	19	40072494	nonsense	probably null
R9470:Cyp2c54	UTSW	19	40072444	missense	probably damaging	1.00
R9792:Cyp2c54	UTSW	19	40046081	missense	probably damaging	1.00
Z1176:Cyp2c54	UTSW	19	40046215	missense	probably damaging	1.00
Z1177:Cyp2c54	UTSW	19	40073757	missense	probably benign	0.10

Posted On

2015-04-16