Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02259:Cyp2c40'

286662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02259

Quality Score

Status

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39792246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 233 (C233G)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

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

AlphaFold

P56657

Predicted Effect

probably benign
Transcript: ENSMUST00000160476
AA Change: C233G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: C233G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,363 (GRCm39)	F122L	probably benign	Het
Atm	A	T	9: 53,429,794 (GRCm39)		probably benign	Het
Ccsap	G	A	8: 124,572,166 (GRCm39)	T112M	possibly damaging	Het
Cd63	T	C	10: 128,747,843 (GRCm39)	S113P	probably benign	Het
Cntnap5c	T	C	17: 58,341,857 (GRCm39)	F183L	probably damaging	Het
Cux1	T	A	5: 136,355,687 (GRCm39)	S321C	probably damaging	Het
Cyp2ab1	G	A	16: 20,131,897 (GRCm39)	T281I	probably damaging	Het
Dnah8	T	C	17: 30,978,588 (GRCm39)	I2955T	probably benign	Het
Drc7	A	G	8: 95,782,733 (GRCm39)	T33A	probably benign	Het
Gigyf2	T	A	1: 87,339,559 (GRCm39)	Y481N	probably damaging	Het
Gsap	A	T	5: 21,391,398 (GRCm39)	E13V	probably benign	Het
Ifna4	A	G	4: 88,760,293 (GRCm39)	K66E	probably damaging	Het
Kif14	T	A	1: 136,427,840 (GRCm39)	M1103K	probably benign	Het
Kif6	A	T	17: 50,202,919 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,558 (GRCm39)	P113T	probably damaging	Het
Med12l	T	A	3: 59,153,264 (GRCm39)	N1096K	probably damaging	Het
Med13	C	A	11: 86,248,327 (GRCm39)	G9W	possibly damaging	Het
Minar1	A	T	9: 89,484,412 (GRCm39)	H328Q	possibly damaging	Het
Nbr1	G	A	11: 101,468,816 (GRCm39)	A639T	probably damaging	Het
Nid2	G	T	14: 19,818,277 (GRCm39)		probably null	Het
Numa1	A	G	7: 101,636,955 (GRCm39)	D22G	possibly damaging	Het
Or13p10	G	A	4: 118,523,634 (GRCm39)	V307I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Phkg2	A	G	7: 127,181,458 (GRCm39)		probably benign	Het
Plcb4	T	C	2: 135,752,166 (GRCm39)		probably null	Het
Plch1	C	T	3: 63,630,170 (GRCm39)		probably null	Het
Prb1b	A	T	6: 132,289,637 (GRCm39)	D62E	unknown	Het
Prl8a1	A	C	13: 27,766,089 (GRCm39)	V2G	probably benign	Het
Spata31	T	C	13: 65,069,297 (GRCm39)	S482P	possibly damaging	Het
Tbc1d4	A	G	14: 101,703,166 (GRCm39)	C760R	probably damaging	Het
Tgs1	A	G	4: 3,604,743 (GRCm39)	N722D	probably damaging	Het
Tmcc2	T	C	1: 132,288,898 (GRCm39)	D28G	probably benign	Het
Zfp457	C	T	13: 67,444,471 (GRCm39)	A11T	possibly damaging	Het
Zfp879	T	C	11: 50,729,255 (GRCm39)	S48G	probably benign	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
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
R2413:Cyp2c40	UTSW	19	39,792,331 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16