Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03175:Cyp2c54'

411971

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: 0.125) question?

Stock #

IGL03175

Quality Score

Status

Chromosome

Chromosomal Location

40026384-40062271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40058672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 253 (E253D)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: E253D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: E253D

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,103 (GRCm39)	L229P	probably damaging	Het
Adamts20	C	T	15: 94,171,136 (GRCm39)	W1862*	probably null	Het
Adgrg6	A	G	10: 14,315,502 (GRCm39)	S601P	probably benign	Het
Bpifb3	T	C	2: 153,761,568 (GRCm39)	Y6H	unknown	Het
Calr3	A	G	8: 73,197,449 (GRCm39)	F27L	probably damaging	Het
Ckap2l	T	C	2: 129,127,437 (GRCm39)	Q247R	probably benign	Het
Cldn20	T	C	17: 3,583,409 (GRCm39)	I194T	probably benign	Het
Col22a1	G	A	15: 71,840,952 (GRCm39)	P468S	possibly damaging	Het
Efemp1	A	T	11: 28,876,259 (GRCm39)	T475S	probably benign	Het
Fam98b	A	G	2: 117,089,719 (GRCm39)	S79G	probably benign	Het
Galnt14	C	A	17: 73,829,649 (GRCm39)	D299Y	probably damaging	Het
Hecw2	T	C	1: 53,965,416 (GRCm39)	E470G	possibly damaging	Het
Hmmr	T	C	11: 40,605,636 (GRCm39)	M318V	probably benign	Het
Il17rd	T	A	14: 26,821,963 (GRCm39)	I419K	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Nlrp4f	A	G	13: 65,342,410 (GRCm39)	F412L	probably damaging	Het
Or5p4	C	A	7: 107,680,925 (GRCm39)	T308K	probably benign	Het
Sel1l3	A	G	5: 53,279,199 (GRCm39)	Y955H	probably damaging	Het
Slc4a10	A	G	2: 62,127,304 (GRCm39)	I916V	probably damaging	Het
Smg9	A	G	7: 24,121,730 (GRCm39)	H497R	probably damaging	Het
Tpp2	T	C	1: 44,012,671 (GRCm39)	I635T	probably benign	Het
Usp34	T	C	11: 23,438,686 (GRCm39)	V3416A	probably benign	Het

Other mutations in Cyp2c54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Cyp2c54	APN	19	40,060,522 (GRCm39)	missense	probably damaging	1.00
IGL02694:Cyp2c54	APN	19	40,035,987 (GRCm39)	missense	possibly damaging	0.55
IGL03170:Cyp2c54	APN	19	40,060,809 (GRCm39)	critical splice donor site	probably null
R0097:Cyp2c54	UTSW	19	40,036,103 (GRCm39)	splice site	probably benign
R0097:Cyp2c54	UTSW	19	40,036,102 (GRCm39)	splice site	probably benign
R0391:Cyp2c54	UTSW	19	40,060,613 (GRCm39)	missense	possibly damaging	0.61
R0581:Cyp2c54	UTSW	19	40,035,999 (GRCm39)	missense	probably benign	0.23
R0787:Cyp2c54	UTSW	19	40,036,079 (GRCm39)	missense	probably benign	0.12
R1253:Cyp2c54	UTSW	19	40,034,629 (GRCm39)	missense	probably damaging	1.00
R1481:Cyp2c54	UTSW	19	40,036,032 (GRCm39)	missense	probably benign	0.30
R1604:Cyp2c54	UTSW	19	40,058,787 (GRCm39)	missense	probably benign	0.01
R3624:Cyp2c54	UTSW	19	40,058,688 (GRCm39)	missense	probably benign	0.21
R3871:Cyp2c54	UTSW	19	40,060,867 (GRCm39)	missense	probably benign	0.37
R3983:Cyp2c54	UTSW	19	40,034,699 (GRCm39)	missense	possibly damaging	0.49
R4401:Cyp2c54	UTSW	19	40,060,615 (GRCm39)	missense	probably benign	0.04
R4416:Cyp2c54	UTSW	19	40,026,703 (GRCm39)	missense	probably benign	0.04
R4962:Cyp2c54	UTSW	19	40,060,585 (GRCm39)	missense	possibly damaging	0.90
R5203:Cyp2c54	UTSW	19	40,060,918 (GRCm39)	missense	probably damaging	1.00
R5634:Cyp2c54	UTSW	19	40,060,858 (GRCm39)	missense	possibly damaging	0.84
R6083:Cyp2c54	UTSW	19	40,062,206 (GRCm39)	missense	probably benign	0.20
R6182:Cyp2c54	UTSW	19	40,036,005 (GRCm39)	missense	probably benign
R6754:Cyp2c54	UTSW	19	40,060,004 (GRCm39)	missense	probably damaging	1.00
R6901:Cyp2c54	UTSW	19	40,058,703 (GRCm39)	missense	probably damaging	1.00
R6948:Cyp2c54	UTSW	19	40,034,636 (GRCm39)	missense	possibly damaging	0.73
R7215:Cyp2c54	UTSW	19	40,034,626 (GRCm39)	missense	probably damaging	1.00
R7244:Cyp2c54	UTSW	19	40,035,953 (GRCm39)	missense	probably damaging	1.00
R7278:Cyp2c54	UTSW	19	40,058,697 (GRCm39)	nonsense	probably null
R7535:Cyp2c54	UTSW	19	40,058,716 (GRCm39)	missense	probably benign
R7838:Cyp2c54	UTSW	19	40,058,688 (GRCm39)	missense	probably benign	0.21
R8039:Cyp2c54	UTSW	19	40,062,176 (GRCm39)	frame shift	probably null
R8275:Cyp2c54	UTSW	19	40,026,749 (GRCm39)	missense	probably benign	0.00
R8340:Cyp2c54	UTSW	19	40,060,831 (GRCm39)	missense	possibly damaging	0.94
R8367:Cyp2c54	UTSW	19	40,062,125 (GRCm39)	missense	probably damaging	0.99
R8477:Cyp2c54	UTSW	19	40,058,708 (GRCm39)	missense	probably benign	0.43
R8487:Cyp2c54	UTSW	19	40,059,990 (GRCm39)	missense	probably damaging	1.00
R8519:Cyp2c54	UTSW	19	40,026,857 (GRCm39)	missense	probably damaging	0.99
R8534:Cyp2c54	UTSW	19	40,036,030 (GRCm39)	missense	probably damaging	0.99
R8858:Cyp2c54	UTSW	19	40,062,227 (GRCm39)	missense	probably benign	0.00
R9215:Cyp2c54	UTSW	19	40,035,950 (GRCm39)	missense	possibly damaging	0.52
R9236:Cyp2c54	UTSW	19	40,060,938 (GRCm39)	nonsense	probably null
R9470:Cyp2c54	UTSW	19	40,060,888 (GRCm39)	missense	probably damaging	1.00
R9792:Cyp2c54	UTSW	19	40,034,525 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2c54	UTSW	19	40,034,659 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2c54	UTSW	19	40,062,201 (GRCm39)	missense	probably benign	0.10

Posted On

2016-08-02