Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03170:Cyp2c54'

411818

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 #

IGL03170

Quality Score

Status

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 40072365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably null
Transcript: ENSMUST00000048959

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,735,955	T943I	probably damaging	Het
Cand2	A	G	6: 115,797,900	D1023G	probably damaging	Het
Cyp4f37	C	T	17: 32,625,119		probably benign	Het
Cyr61	C	A	3: 145,649,759	A12S	probably benign	Het
Entpd2	T	C	2: 25,399,481	F325S	probably damaging	Het
Flnb	T	C	14: 7,818,261	I37T	possibly damaging	Het
Gm7030	C	T	17: 36,128,713	G125E	probably damaging	Het
Gm7534	C	T	4: 134,193,034	V607I	possibly damaging	Het
Gtpbp10	A	G	5: 5,555,355	V116A	probably benign	Het
Lrp1b	T	A	2: 40,697,444	N164I	unknown	Het
Nle1	T	A	11: 82,904,270	T312S	probably benign	Het
Olfr509	T	C	7: 108,646,100	I159V	probably benign	Het
Pim1	T	A	17: 29,491,178	L12Q	possibly damaging	Het
Plb1	G	T	5: 32,284,902	C246F	probably damaging	Het
Ppp4r4	T	C	12: 103,590,774		probably benign	Het
Prl6a1	T	A	13: 27,315,423	V63D	possibly damaging	Het
Ptprz1	G	A	6: 22,959,767	A88T	probably benign	Het
Ranbp3l	A	T	15: 9,000,787	E31V	probably damaging	Het
Rgs9	G	A	11: 109,259,855	T209I	probably benign	Het
Smg8	A	G	11: 87,086,608	V49A	probably damaging	Het
Smim6	A	T	11: 115,913,488	T34S	possibly damaging	Het
Snw1	T	G	12: 87,472,252	T4P	probably benign	Het
Sod2	C	A	17: 13,008,370	H70Q	probably benign	Het
Tro	A	G	X: 150,655,560	S34P	probably benign	Het
Tshr	T	A	12: 91,537,869	M527K	probably damaging	Het
Uggt1	A	C	1: 36,163,261	V1085G	probably damaging	Het
Vmn1r21	A	G	6: 57,843,862	V199A	probably damaging	Het
Xkr9	T	C	1: 13,700,812	I184T	possibly damaging	Het
Zfp369	T	C	13: 65,294,410	S273P	probably damaging	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
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

2016-08-02