Mutagenetix > Incidental Mutation

Incidental Mutation 'R8858:Cyp2c54'

675491

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40073783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 10 (T10I)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: T10I

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

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: T10I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,640,076	Q91R	probably benign	Het
Abca16	G	T	7: 120,453,104	C465F	probably benign	Het
Amfr	A	G	8: 93,987,442	Y254H	probably damaging	Het
Arl6ip6	A	G	2: 53,203,006	E181G	probably damaging	Het
Atp10a	A	G	7: 58,816,223	E1066G	probably damaging	Het
BC034090	A	G	1: 155,226,218	V100A	probably benign	Het
Cep126	T	C	9: 8,130,269	M54V	probably benign	Het
Csmd1	A	G	8: 16,070,304	V1829A	probably benign	Het
Disc1	A	G	8: 125,251,042	Y799C	probably damaging	Het
Dnajc17	T	C	2: 119,180,964	T162A	probably benign	Het
E330009J07Rik	T	C	6: 40,422,735	N173S	probably benign	Het
Fam96a	T	C	9: 66,132,542	I47T	probably damaging	Het
Fhad1	T	C	4: 141,939,028	E695G	possibly damaging	Het
Gadl1	A	T	9: 116,006,601	S366C	probably damaging	Het
Gbp11	C	A	5: 105,325,526	E454*	probably null	Het
Gm32742	T	A	9: 51,150,956	T691S	probably benign	Het
Gm8765	T	C	13: 50,701,387	S354P	probably benign	Het
Gsdma3	C	A	11: 98,629,869	Q109K	probably benign	Het
Hsph1	A	T	5: 149,625,111	V482E	probably damaging	Het
Ighv1-23	T	A	12: 114,764,463	Y113F	probably benign	Het
Lactb	G	T	9: 66,955,900	Y477*	probably null	Het
Lgr6	T	C	1: 134,996,111		probably null	Het
Lrp1b	T	C	2: 41,670,815		probably benign	Het
Map3k4	A	C	17: 12,271,872	L224R	probably damaging	Het
Mex3d	A	T	10: 80,381,383	C667S	unknown	Het
Myh8	A	G	11: 67,301,994	E1537G	possibly damaging	Het
Myo5a	T	C	9: 75,184,683	S1205P	probably damaging	Het
Nfic	A	T	10: 81,427,131		probably benign	Het
Nrcam	T	A	12: 44,597,771		probably benign	Het
Olfr1278	G	A	2: 111,293,158	V297M	probably benign	Het
Olfr171	A	G	16: 19,624,359	V247A	probably damaging	Het
Orc2	A	T	1: 58,493,698	D127E	probably benign	Het
Ppp2r5c	T	A	12: 110,552,895		probably null	Het
Ptpn18	A	G	1: 34,463,115	T71A	possibly damaging	Het
Ptpru	T	C	4: 131,799,514		probably benign	Het
Ralgapa2	C	A	2: 146,260,365		probably null	Het
Rnase9	G	A	14: 51,039,309	P71S		Het
Ryr1	A	G	7: 29,109,213	L485P	probably benign	Het
Sardh	T	C	2: 27,228,290	D476G	probably null	Het
Sorbs3	T	C	14: 70,201,401	Y170C	probably damaging	Het
St8sia5	C	T	18: 77,232,815	P88S	probably benign	Het
Tmprss15	A	G	16: 79,057,609		probably null	Het
Tnfrsf13b	A	G	11: 61,147,537	I215M	possibly damaging	Het
Unc13d	G	T	11: 116,062,792	L1052M	probably damaging	Het
Vasn	A	G	16: 4,648,969	D260G	probably benign	Het
Wdr77	T	C	3: 105,961,662	V116A	probably damaging	Het
Zfp560	A	G	9: 20,349,107	I153T	probably benign	Het
Zfp672	G	A	11: 58,317,319	R59C	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCGTGCAAAATACTGGAG -3'
(R):5'- GTCTTATGGGCAACACATAAAGAAC -3'

Sequencing Primer
(F):5'- CGTGCAAAATACTGGAGGAGCATAAG -3'
(R):5'- GCAACACATAAAGAACAAGGTAAAAG -3'

Posted On

2021-07-15