Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Cyp2c54'

350718

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

040944-MU

Accession Numbers

Essential gene?

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

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40046255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 324 (Q324K)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048959
AA Change: Q324K

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: Q324K

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

0.5976

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,517,220	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,542,369		probably null	Het
Abcc6	T	C	7: 45,995,289	I821V	probably benign	Het
Adam34	G	A	8: 43,650,769	T613I	probably benign	Het
AF067061	G	T	13: 120,264,279	A160S	possibly damaging	Het
Ap2b1	C	T	11: 83,390,716	T816M	probably damaging	Het
BC005561	T	C	5: 104,521,023	V1137A	probably benign	Het
Cct2	G	A	10: 117,054,135	P10L	probably damaging	Het
Cdc23	C	A	18: 34,637,486		probably benign	Het
Chrna2	G	T	14: 66,149,457	V351L	probably benign	Het
Clca3a1	T	A	3: 144,755,309	T194S	probably benign	Het
Col18a1	C	A	10: 77,088,887	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,113,518	K400T	possibly damaging	Het
Dcpp2	T	A	17: 23,900,573	Y120*	probably null	Het
Ddx11	C	T	17: 66,134,130	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,233,711	V2333E	possibly damaging	Het
Eno3	T	A	11: 70,661,411	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,941	V492M	probably damaging	Het
Gdap1	T	G	1: 17,159,907		probably benign	Het
Gm1587	C	T	14: 77,794,843	E118K	unknown	Het
Gm4981	T	A	10: 58,235,801	N197I	possibly damaging	Het
Gprin3	T	C	6: 59,354,560	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,761,853	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,190,677	Y175N	probably benign	Het
Hydin	G	A	8: 110,392,325	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,446,663	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,637	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,631,304	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,846,046		probably benign	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mfap2	A	G	4: 141,014,243	Q71R	possibly damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Msr1	A	G	8: 39,620,018	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,447,170	V646A	probably damaging	Het
Mybpc3	A	T	2: 91,135,369	K1175N	probably benign	Het
Myo1c	T	A	11: 75,661,499	L366Q	probably benign	Het
Olfr105-ps	T	C	17: 37,383,398	V277A	possibly damaging	Het
Olfr308	A	G	7: 86,321,734	Y73H	probably damaging	Het
Olfr381	A	G	11: 73,486,135	S230P	possibly damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Pde4d	A	G	13: 109,740,406	T29A	probably benign	Het
Rapgef5	A	G	12: 117,728,670	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,850,148	N43S	probably benign	Het
Rnf44	A	C	13: 54,683,148	S98R	probably damaging	Het
Samhd1	C	A	2: 157,123,449	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,347,818	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,145,869	N813S	probably benign	Het
Sirt3	A	T	7: 140,878,112	C41*	probably null	Het
Speg	C	A	1: 75,422,547	P2213T	probably benign	Het
Srcin1	T	G	11: 97,525,553	E951A	probably damaging	Het
Syn2	C	G	6: 115,237,298	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,507,213	T326A	probably benign	Het
Tes	T	A	6: 17,099,701		probably null	Het
Tln1	T	C	4: 43,553,030	T354A	probably damaging	Het
Ttn	G	T	2: 76,802,361	S12370R	possibly damaging	Het
Twsg1	T	C	17: 65,929,763	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,984,809	T233I	probably benign	Het
Wee2	A	T	6: 40,455,241	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,208,243	C56F	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
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'- ACCTTGGGAATGAAGTAGTTCC -3'
(R):5'- ATTCTGCCTCCAATGCCTAAG -3'

Sequencing Primer
(F):5'- CCTGAATTTAATGTCACAGGTCAC -3'
(R):5'- TTATGCCCTAGATAGGCCTG -3'

Posted On

2015-10-08