Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Cyp2c54'

657342

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: 0.092) question?

Stock #

R8477 (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 40070264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 241 (K241N)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: K241N

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: K241N

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: 99.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 79,088,340	S94L	probably benign	Het
Ackr1	C	T	1: 173,332,188	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,501,921	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,184,397	F384I	probably damaging	Het
Bptf	T	A	11: 107,052,853	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,932,927	E95G	probably damaging	Het
Cenpf	A	T	1: 189,653,188	H2298Q	probably benign	Het
Chn2	G	T	6: 54,269,482		probably null	Het
Csnk1g1	T	C	9: 66,002,273	L224P	probably damaging	Het
Cyp2c55	G	T	19: 39,011,041	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,516,972	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,687,348	D108G	probably null	Het
Dpagt1	G	T	9: 44,332,093		probably null	Het
Dzip1	T	C	14: 118,901,546	R424G	possibly damaging	Het
E330014E10Rik	A	C	5: 95,801,708	M105L	probably benign	Het
Ero1lb	A	G	13: 12,601,783	K367R	probably benign	Het
Evi2	T	C	11: 79,516,065	Y228C	probably benign	Het
Exosc10	A	T	4: 148,565,390	I426L	possibly damaging	Het
Fam208b	A	G	13: 3,575,079	F1624L	probably benign	Het
Gba2	C	T	4: 43,569,944	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,803,124		probably benign	Het
Gm4070	T	C	7: 105,898,926	K1640E	possibly damaging	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Hc	A	T	2: 34,989,170	C1557S	probably damaging	Het
Hfm1	C	T	5: 106,881,818	S799N	probably benign	Het
Hibadh	A	T	6: 52,640,200	W17R	probably benign	Het
Hivep1	A	T	13: 42,184,220	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,067,580	T113I	probably benign	Het
Il2rb	A	T	15: 78,485,806	V211D	probably damaging	Het
Itgal	A	G	7: 127,300,933	Y121C	probably damaging	Het
Kirrel	T	C	3: 87,084,831	T597A	possibly damaging	Het
Lats1	A	G	10: 7,705,515	E688G	probably damaging	Het
Lbr	C	T	1: 181,816,974	A589T	possibly damaging	Het
Limch1	G	A	5: 66,974,565	V133I	probably benign	Het
Mast2	C	T	4: 116,307,210	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,377,947	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,459,794	V833A	probably benign	Het
Olfr358	T	C	2: 37,005,048	T189A	probably benign	Het
Olfr945	A	T	9: 39,257,803	Y290N	probably damaging	Het
Osgep	C	A	14: 50,917,877	A75S	probably damaging	Het
Pank1	C	A	19: 34,878,655	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,505,254	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,763,312	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453		probably benign	Het
Polr2a	G	A	11: 69,735,486	P1613S	probably benign	Het
Prom2	A	C	2: 127,539,204	S251A	probably benign	Het
R3hdm2	A	G	10: 127,484,160	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011	V50L	probably benign	Het
Rerg	T	C	6: 137,056,186	T164A	probably benign	Het
Rho	T	A	6: 115,935,385		probably null	Het
Ric1	A	G	19: 29,597,783	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,576,795	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,125,662	V35I	probably benign	Het
Srpk2	A	T	5: 23,513,988	S610T	probably benign	Het
Tmem147	T	A	7: 30,728,231	M86L	probably benign	Het
Trhde	A	G	10: 114,800,717	V195A	probably benign	Het
Trio	T	C	15: 27,773,952	S112G	possibly damaging	Het
U2af2	T	C	7: 5,075,694	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,224,241	I252M	probably benign	Het
Wasf2	A	G	4: 133,185,101	E88G	unknown	Het
Zfp37	A	G	4: 62,192,003	C275R	probably damaging	Het
Zfp532	A	T	18: 65,624,066	I357F	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
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'- TGGCGTTTCTACTCACAAGATG -3'
(R):5'- CATTTGGGTAGTAATTTCTCCCTTG -3'

Sequencing Primer
(F):5'- ATTGTTTTTCACATGGTATTGTCATG -3'
(R):5'- GGGTAGTAATTTCTCCCTTGTATTTC -3'

Posted On

2021-01-18