Mutagenetix > Incidental Mutation

Incidental Mutation 'R0581:Cyp2c54'

56447

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

038771-MU

Accession Numbers

Essential gene?

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

Stock #

R0581 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40047555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 304 (T304S)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: T304S

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: T304S

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

0.3098

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,050,620	T2761A	probably benign	Het
Apold1	G	A	6: 134,983,813	V77I	probably benign	Het
Atad2	T	C	15: 58,126,664	T139A	probably benign	Het
Cacna1a	A	T	8: 84,601,936	I1668F	possibly damaging	Het
Ccer2	T	A	7: 28,757,026		probably benign	Het
Dpp4	T	A	2: 62,356,676	M497L	probably benign	Het
Evpl	T	A	11: 116,229,490	I541L	probably benign	Het
Ggn	A	G	7: 29,172,304	T370A	probably benign	Het
Ghr	A	G	15: 3,388,634		probably benign	Het
Gm6605	C	A	7: 38,448,275		noncoding transcript	Het
Gpr68	G	C	12: 100,878,556	P243R	probably damaging	Het
Gtf3c2	G	T	5: 31,159,518	Y720*	probably null	Het
Il2rb	T	A	15: 78,481,936	Y387F	possibly damaging	Het
Kcnu1	T	A	8: 25,937,501	V282E	probably damaging	Het
Krt222	G	A	11: 99,236,192	Q201*	probably null	Het
Lats1	A	G	10: 7,702,941	T610A	possibly damaging	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Myh7	T	C	14: 54,985,496	I751V	probably benign	Het
Mypn	A	G	10: 63,162,244	I429T	probably benign	Het
Nemf	A	T	12: 69,322,271	D723E	probably benign	Het
Nlrp4b	T	C	7: 10,714,530	L220P	probably damaging	Het
Npr3	T	A	15: 11,851,450	D418V	probably damaging	Het
Nsd3	A	G	8: 25,710,691	N1270S	probably damaging	Het
Olfr123	A	G	17: 37,796,102	I219M	probably damaging	Het
Olfr344	T	C	2: 36,568,822	S75P	probably damaging	Het
Otogl	G	A	10: 107,789,040	T1579I	possibly damaging	Het
Pkp2	T	A	16: 16,269,783		probably benign	Het
Psd3	T	C	8: 67,720,946	Y301C	probably damaging	Het
Psmb4	T	C	3: 94,886,168	H134R	probably damaging	Het
Ralgapb	A	G	2: 158,492,961	T1043A	probably benign	Het
Sec14l5	T	A	16: 5,178,485		probably null	Het
Serpina12	T	A	12: 104,031,140	Q374L	probably damaging	Het
Serpinb10	C	T	1: 107,546,962	R362*	probably null	Het
Sorcs1	T	A	19: 50,252,701	I416F	possibly damaging	Het
Sparcl1	T	C	5: 104,093,312	D82G	probably damaging	Het
Stat6	A	T	10: 127,648,116	Q89L	probably damaging	Het
Tat	A	G	8: 109,991,638	T52A	possibly damaging	Het
Yipf7	T	A	5: 69,521,063	I128F	probably benign	Het
Zfp112	T	A	7: 24,125,863	C419S	probably damaging	Het
Zzef1	A	G	11: 72,851,900	I769V	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
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

Predicted Primers

PCR Primer
(F):5'- AGTCACCCTCCTCATTACAGACAGTG -3'
(R):5'- ACACACCTGGGCAGATAATCTTTGG -3'

Sequencing Primer
(F):5'- TCCTCATTACAGACAGTGAAACAG -3'
(R):5'- GGAAGATGACAATCATCCTTTGAAA -3'

Posted On

2013-07-11