Mutagenetix > Incidental Mutation

Incidental Mutation 'R8275:Cyp2c54'

637961

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 #

R8275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40038305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 469 (I469L)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: I469L

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

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: I469L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap2	T	C	4: 57,886,329		probably null	Het
Alx1	T	C	10: 103,028,389	D73G	probably benign	Het
Asah1	G	A	8: 41,348,122	H156Y	probably damaging	Het
Cgn	G	A	3: 94,774,953	L439F	possibly damaging	Het
Creb1	C	A	1: 64,558,528	T7K	probably benign	Het
Cyp2s1	T	A	7: 25,809,310	T236S	probably benign	Het
Duox1	T	C	2: 122,344,768	I1349T	probably benign	Het
Efhd2	C	T	4: 141,874,762	A36T	probably benign	Het
Espl1	G	A	15: 102,302,753		probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat3	T	A	9: 16,246,750	Q1188L	probably damaging	Het
Flt1	A	T	5: 147,678,147	Y330N	probably damaging	Het
Golga4	A	T	9: 118,532,559	S202C	probably damaging	Het
Htr2b	C	T	1: 86,102,572	D134N	probably damaging	Het
Katna1	T	A	10: 7,752,810	C268S	probably damaging	Het
Lama4	T	C	10: 39,072,811	Y857H	probably damaging	Het
Lyst	T	C	13: 13,776,082	I3741T	probably benign	Het
Mcm4	T	C	16: 15,634,571	I233V	probably damaging	Het
Mettl22	T	C	16: 8,485,928	V286A	possibly damaging	Het
Nav3	C	A	10: 109,692,123	G1503V	noncoding transcript	Het
Obox1	T	A	7: 15,556,228	N165K	probably damaging	Het
Olfr744	T	A	14: 50,618,411	M63K	probably damaging	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Papss2	T	C	19: 32,638,360	L164P	probably damaging	Het
Pikfyve	T	A	1: 65,253,342		probably benign	Het
Polr2a	G	A	11: 69,748,056	R51C	probably damaging	Het
Rsph10b	C	G	5: 143,966,505	T606S	possibly damaging	Het
Siglecg	T	C	7: 43,412,468	V546A	probably benign	Het
Slc22a29	T	C	19: 8,169,317	S374G	probably benign	Het
Tia1	C	T	6: 86,427,736	Q318*	probably null	Het
Trpm2	T	A	10: 77,966,025	K69*	probably null	Het
Unc80	C	T	1: 66,640,614	R2115*	probably null	Het
Usp35	A	G	7: 97,314,819	S436P	probably damaging	Het
Vmn1r220	A	T	13: 23,184,313	L71*	probably null	Het
Vmn2r15	A	T	5: 109,286,284	D851E	probably benign	Het
Vps33a	A	T	5: 123,569,459	D148E	probably damaging	Het
Zfp729a	G	A	13: 67,620,104	H669Y	probably benign	Het
Zfp804b	C	T	5: 6,772,289	R258Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCCATATCATCACAGCATATGG -3'
(R):5'- TCTCAGGCTGACACTTGTG -3'

Sequencing Primer
(F):5'- GAACAGTCAAAAATATTTGTGCAGG -3'
(R):5'- TCTCAGGCTGACACTTGTGAATAAGG -3'

Posted On

2020-07-28