Mutagenetix > Incidental Mutation

Incidental Mutation 'R2413:Cyp2c40'

250083

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

MMRRC Submission

040377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 39792331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 204 (C204*)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162507] [ENSMUST00000162630]

AlphaFold

P56657

Predicted Effect

probably null
Transcript: ENSMUST00000160476
AA Change: C204*

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: C204*

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	516	9.8e-153	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162434

Predicted Effect

probably benign
Transcript: ENSMUST00000162507

SMART Domains

Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	120	3.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162630

SMART Domains

Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	193	6.6e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163090

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,036,446 (GRCm39)	A168S	probably benign	Het
Aspm	A	C	1: 139,405,495 (GRCm39)	I1461L	probably damaging	Het
Bcas3	C	T	11: 85,422,681 (GRCm39)	L517F	probably damaging	Het
Brpf3	T	C	17: 29,024,924 (GRCm39)		probably benign	Het
Cfap74	A	C	4: 155,503,081 (GRCm39)	R24S	possibly damaging	Het
Clec1a	T	A	6: 129,412,218 (GRCm39)	S51C	probably damaging	Het
Dgki	C	A	6: 36,824,408 (GRCm39)	R1040L	possibly damaging	Het
F830016B08Rik	T	A	18: 60,433,365 (GRCm39)	Y149*	probably null	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Frmpd1	A	T	4: 45,278,969 (GRCm39)	T565S	probably benign	Het
Heatr5b	A	T	17: 79,064,290 (GRCm39)		probably null	Het
Ipcef1	G	A	10: 6,885,225 (GRCm39)	P92S	probably damaging	Het
Kctd12	T	A	14: 103,219,603 (GRCm39)	I92F	probably damaging	Het
Kntc1	C	T	5: 123,902,212 (GRCm39)	T285I	probably benign	Het
Lipo2	A	T	19: 33,728,657 (GRCm39)	N32K	probably damaging	Het
Mier3	T	C	13: 111,851,662 (GRCm39)		probably benign	Het
Myd88	T	C	9: 119,166,484 (GRCm39)	T277A	probably benign	Het
Myo3a	T	A	2: 22,467,924 (GRCm39)	Y1331N	probably benign	Het
Neb	C	A	2: 52,100,644 (GRCm39)	W4422L	probably damaging	Het
Nfasc	A	G	1: 132,523,243 (GRCm39)	S1019P	probably damaging	Het
Npepps	T	C	11: 97,131,792 (GRCm39)	E354G	probably damaging	Het
Ntrk2	G	T	13: 59,022,226 (GRCm39)	R427L	possibly damaging	Het
Or51g1	A	G	7: 102,634,009 (GRCm39)	S121P	probably damaging	Het
Ptprd	T	A	4: 76,051,437 (GRCm39)	D262V	probably damaging	Het
Serpina9	C	T	12: 103,967,485 (GRCm39)		probably null	Het
Setd2	A	G	9: 110,376,572 (GRCm39)	E129G	probably damaging	Het
Slc29a1	A	G	17: 45,896,643 (GRCm39)	L444P	probably damaging	Het
Synj2	C	A	17: 6,078,849 (GRCm39)	P217T	probably damaging	Het
Tex52	T	C	6: 128,356,871 (GRCm39)	L188P	probably damaging	Het
Tmem63a	A	G	1: 180,788,640 (GRCm39)	M326V	probably benign	Het
Tnxb	A	G	17: 34,937,252 (GRCm39)	T2900A	probably damaging	Het

Other mutations in Cyp2c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Cyp2c40	APN	19	39,801,027 (GRCm39)	missense	probably benign	0.17
IGL01660:Cyp2c40	APN	19	39,775,254 (GRCm39)	missense	probably damaging	0.99
IGL01897:Cyp2c40	APN	19	39,792,217 (GRCm39)	nonsense	probably null
IGL01926:Cyp2c40	APN	19	39,791,099 (GRCm39)	missense	probably benign	0.25
IGL02078:Cyp2c40	APN	19	39,755,926 (GRCm39)	missense	probably benign	0.01
IGL02259:Cyp2c40	APN	19	39,792,246 (GRCm39)	missense	probably benign	0.00
IGL02716:Cyp2c40	APN	19	39,795,980 (GRCm39)	missense	possibly damaging	0.49
cypriot	UTSW	19	39,755,899 (GRCm39)	missense	probably damaging	0.98
R0269:Cyp2c40	UTSW	19	39,762,340 (GRCm39)	missense	probably damaging	1.00
R0308:Cyp2c40	UTSW	19	39,766,432 (GRCm39)	missense	probably damaging	1.00
R0309:Cyp2c40	UTSW	19	39,766,495 (GRCm39)	missense	possibly damaging	0.51
R0441:Cyp2c40	UTSW	19	39,795,607 (GRCm39)	splice site	probably benign
R1068:Cyp2c40	UTSW	19	39,801,025 (GRCm39)	missense	possibly damaging	0.93
R1123:Cyp2c40	UTSW	19	39,801,121 (GRCm39)	missense	probably benign	0.00
R1443:Cyp2c40	UTSW	19	39,766,415 (GRCm39)	missense	possibly damaging	0.90
R1506:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	0.96
R1567:Cyp2c40	UTSW	19	39,792,215 (GRCm39)	missense	probably null	0.99
R1731:Cyp2c40	UTSW	19	39,801,133 (GRCm39)	missense	probably damaging	1.00
R1774:Cyp2c40	UTSW	19	39,775,250 (GRCm39)	missense	probably damaging	1.00
R1861:Cyp2c40	UTSW	19	39,775,319 (GRCm39)	missense	probably benign	0.11
R1977:Cyp2c40	UTSW	19	39,766,485 (GRCm39)	missense	probably damaging	1.00
R2022:Cyp2c40	UTSW	19	39,801,224 (GRCm39)	unclassified	probably benign
R2063:Cyp2c40	UTSW	19	39,775,224 (GRCm39)	missense	probably benign	0.01
R2359:Cyp2c40	UTSW	19	39,766,398 (GRCm39)	missense	probably damaging	1.00
R3685:Cyp2c40	UTSW	19	39,775,223 (GRCm39)	missense	possibly damaging	0.95
R4080:Cyp2c40	UTSW	19	39,790,973 (GRCm39)	missense	probably benign	0.01
R4614:Cyp2c40	UTSW	19	39,792,300 (GRCm39)	missense	probably damaging	1.00
R4661:Cyp2c40	UTSW	19	39,775,290 (GRCm39)	missense	probably benign	0.00
R4716:Cyp2c40	UTSW	19	39,791,105 (GRCm39)	splice site	probably null
R4799:Cyp2c40	UTSW	19	39,762,293 (GRCm39)	missense	probably damaging	1.00
R5133:Cyp2c40	UTSW	19	39,795,663 (GRCm39)	missense	probably benign	0.02
R5191:Cyp2c40	UTSW	19	39,791,035 (GRCm39)	missense	probably damaging	0.96
R5310:Cyp2c40	UTSW	19	39,766,474 (GRCm39)	missense	probably damaging	1.00
R5455:Cyp2c40	UTSW	19	39,792,236 (GRCm39)	missense	possibly damaging	0.75
R5619:Cyp2c40	UTSW	19	39,792,228 (GRCm39)	missense	probably damaging	1.00
R5989:Cyp2c40	UTSW	19	39,796,024 (GRCm39)	missense	probably benign	0.45
R6175:Cyp2c40	UTSW	19	39,801,004 (GRCm39)	missense	probably benign	0.00
R6622:Cyp2c40	UTSW	19	39,790,990 (GRCm39)	missense	probably damaging	1.00
R6987:Cyp2c40	UTSW	19	39,801,211 (GRCm39)	unclassified	probably benign
R7057:Cyp2c40	UTSW	19	39,796,063 (GRCm39)	missense	probably damaging	1.00
R7485:Cyp2c40	UTSW	19	39,796,050 (GRCm39)	nonsense	probably null
R7560:Cyp2c40	UTSW	19	39,795,658 (GRCm39)	missense	possibly damaging	0.81
R7648:Cyp2c40	UTSW	19	39,792,289 (GRCm39)	makesense	probably null
R7718:Cyp2c40	UTSW	19	39,755,782 (GRCm39)	missense	probably benign	0.00
R7763:Cyp2c40	UTSW	19	39,795,612 (GRCm39)	missense	possibly damaging	0.90
R7893:Cyp2c40	UTSW	19	39,775,292 (GRCm39)	missense	probably damaging	0.99
R8094:Cyp2c40	UTSW	19	39,791,015 (GRCm39)	missense	probably benign	0.00
R8094:Cyp2c40	UTSW	19	39,791,009 (GRCm39)	missense	probably benign	0.17
R8264:Cyp2c40	UTSW	19	39,795,971 (GRCm39)	missense	possibly damaging	0.95
R8287:Cyp2c40	UTSW	19	39,755,899 (GRCm39)	missense	probably damaging	0.98
R8302:Cyp2c40	UTSW	19	39,796,066 (GRCm39)	missense	probably damaging	1.00
R8848:Cyp2c40	UTSW	19	39,801,244 (GRCm39)	missense	unknown
R8915:Cyp2c40	UTSW	19	39,795,991 (GRCm39)	missense	probably benign	0.31
R8963:Cyp2c40	UTSW	19	39,755,926 (GRCm39)	missense	possibly damaging	0.82
R9132:Cyp2c40	UTSW	19	39,762,317 (GRCm39)	missense	probably damaging	1.00
R9159:Cyp2c40	UTSW	19	39,762,317 (GRCm39)	missense	probably damaging	1.00
R9168:Cyp2c40	UTSW	19	39,755,819 (GRCm39)	missense	probably benign
R9486:Cyp2c40	UTSW	19	39,796,050 (GRCm39)	nonsense	probably null
R9486:Cyp2c40	UTSW	19	39,755,808 (GRCm39)	missense	probably benign	0.00
R9489:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	1.00
R9605:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	1.00
R9772:Cyp2c40	UTSW	19	39,792,348 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAAGTACTTGTCTGACATGTCTC -3'
(R):5'- ATTCTTCAGCATGTAAGTACCTAGC -3'

Sequencing Primer
(F):5'- AGTACTTGTCTGACATGTCTCTATTG -3'
(R):5'- CAGCATGTAAGTACCTAGCAGTTAAG -3'

Posted On

2014-11-12