Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Cyp2c54'

658566

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 #

R8519 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40038413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 433 (R433W)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048959
AA Change: R433W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: R433W

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	G	4: 41,505,071	S214P	possibly damaging	Het
3632451O06Rik	T	C	14: 49,773,236	D338G	probably damaging	Het
Adamts14	T	C	10: 61,202,840	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,193,557	W1156*	probably null	Het
Adcy9	T	C	16: 4,288,128	I1041V	possibly damaging	Het
Art4	C	A	6: 136,854,351		probably null	Het
Bcl9	A	G	3: 97,209,018	S787P	probably benign	Het
Bptf	T	C	11: 107,061,764	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,808,847	N76S	probably damaging	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cldn10	T	G	14: 118,855,027	V13G	probably benign	Het
Cnot6	G	T	11: 49,685,114	Q178K	probably benign	Het
Crot	T	C	5: 8,973,629	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,401,453	H232L	possibly damaging	Het
Cuzd1	T	C	7: 131,308,897	I556M	possibly damaging	Het
Cyp2j11	A	G	4: 96,319,302	F259L	probably benign	Het
Dhx9	C	T	1: 153,473,176	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,099	V1536M	probably benign	Het
Erlin1	T	A	19: 44,069,602		probably benign	Het
Foxb2	C	A	19: 16,872,983	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,410,709	T388S	probably benign	Het
Gimap5	T	C	6: 48,753,134	C213R	probably benign	Het
Gkap1	T	G	13: 58,238,692	K57N	probably damaging	Het
Gm10696	T	C	3: 94,176,190	M105V	probably benign	Het
Gm14139	A	G	2: 150,192,780	I340M	probably benign	Het
Gm15922	T	C	7: 3,737,433	Q263R	probably benign	Het
H60b	T	G	10: 22,283,522		probably benign	Het
Hectd4	C	T	5: 121,304,426	R670*	probably null	Het
Hoxc9	A	G	15: 102,983,909	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,121,782	E105G	possibly damaging	Het
Klk10	T	A	7: 43,782,815	Y57*	probably null	Het
Lrrc63	A	T	14: 75,125,872	I273K	possibly damaging	Het
M6pr	T	C	6: 122,315,066	I119T	probably damaging	Het
Mael	T	C	1: 166,235,558		probably null	Het
Magi1	A	G	6: 93,704,349	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,136,777	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,310,463		probably benign	Het
Mrc2	A	G	11: 105,347,306	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,730,848	V164A	probably benign	Het
Mynn	C	A	3: 30,607,141	P124H	probably damaging	Het
Olfr267	A	G	4: 58,785,203	I173T	probably damaging	Het
Olfr300-ps1	A	T	7: 86,443,854	N291I	probably damaging	Het
Olfr323	T	G	11: 58,625,974	Q23P	probably damaging	Het
Olfr330	A	G	11: 58,529,503	F161S	possibly damaging	Het
Olfr420	A	G	1: 174,159,048	I92V	probably damaging	Het
Pcif1	A	G	2: 164,884,383	N68S	probably damaging	Het
Pcm1	T	A	8: 41,275,939	N649K	probably damaging	Het
Plxna2	T	A	1: 194,793,958	I1162N	probably damaging	Het
Pnp2	T	A	14: 50,964,385	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,848,362	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,664,779	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,454,707	F187L	probably benign	Het
Smg1	T	C	7: 118,171,759		probably benign	Het
Stn1	T	C	19: 47,501,672	H342R	probably benign	Het
Sult1c1	A	T	17: 53,969,681	H117Q	probably damaging	Het
Thap1	G	A	8: 26,160,897	R42K	probably damaging	Het
Tpp2	A	T	1: 43,977,205		probably null	Het
Trib2	G	T	12: 15,815,346	P76Q	probably damaging	Het
Ttc24	G	T	3: 88,073,062	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,416,647	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,176,643		probably null	Het
Ugt2b1	A	G	5: 86,926,467	L11S	probably damaging	Het
Uso1	T	G	5: 92,195,363	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,479,468	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,486,348	L497F	probably benign	Het
Vsig10l	G	A	7: 43,464,902	S318N	probably benign	Het
Wbp4	A	G	14: 79,476,823	L83P	probably damaging	Het
Wnk1	G	A	6: 119,950,083	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,295,241	V198M	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
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
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'- GATAAAAGGCAGTGTGTTCAGTATG -3'
(R):5'- TGTCAACTTGCCTGATAGGG -3'

Sequencing Primer
(F):5'- AGCCAGGCATTTGATTTTCAGGAAG -3'
(R):5'- AACTTGCCTGATAGGGTATCTTC -3'

Posted On

2021-01-18