Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00333:Cyp2c54'

5662

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 #

IGL00333

Quality Score

Status

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40072078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 153 (V153G)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048959
AA Change: V153G

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

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: V153G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b3	C	T	10: 80,530,987	C259Y	probably damaging	Het
Bag6	T	G	17: 35,144,651	D770E	probably damaging	Het
Ccdc8	T	A	7: 16,996,042	D485E	unknown	Het
Fam214a	T	C	9: 75,025,790	I1006T	probably benign	Het
Gm10471	A	G	5: 26,086,493	M105T	possibly damaging	Het
Haus8	A	G	8: 71,255,645		probably null	Het
Hgf	A	T	5: 16,611,882	T499S	possibly damaging	Het
Ifitm1	T	A	7: 140,969,624	*107R	probably null	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Klk1b27	T	A	7: 44,056,143		probably null	Het
Lpin2	C	A	17: 71,243,972	T709K	probably damaging	Het
Lrig3	T	C	10: 126,013,148	L945P	probably benign	Het
Lrrn4	C	T	2: 132,870,817	C362Y	probably damaging	Het
Map3k20	T	C	2: 72,371,976	S184P	probably damaging	Het
Nr2f1	A	T	13: 78,189,833	V231E	probably damaging	Het
Olfr103	A	T	17: 37,336,583	Y216*	probably null	Het
Orc1	T	C	4: 108,595,325		probably benign	Het
Osr1	A	C	12: 9,579,432	I102L	probably benign	Het
Pcbd1	A	T	10: 61,092,170	Q37L	probably benign	Het
Pclo	C	T	5: 14,521,677	Q359*	probably null	Het
Rpgrip1	A	T	14: 52,150,438		probably null	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Sspo	A	G	6: 48,470,453	T2184A	probably benign	Het
Synpo2	C	T	3: 123,113,210	G819D	probably damaging	Het
Taar8b	A	G	10: 24,091,756	V180A	possibly damaging	Het
Tbc1d8	T	C	1: 39,394,129	D324G	probably damaging	Het
Tcaf2	A	T	6: 42,630,036	L328*	probably null	Het
Tmem253	T	C	14: 52,017,961	L76P	probably damaging	Het
Tsc1	G	A	2: 28,661,611	V46I	probably damaging	Het
Ttn	A	T	2: 76,949,081	F1152I	probably benign	Het
Txnrd2	T	C	16: 18,438,351	V139A	probably damaging	Het
Ublcp1	T	C	11: 44,460,770	D212G	probably damaging	Het
Utrn	A	T	10: 12,671,830	L1622Q	probably damaging	Het
Vmn2r103	A	G	17: 19,793,102	T162A	probably damaging	Het

Other mutations in Cyp2c54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20