Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01660:Cyp2c40'

103140

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: 0.126) question?

Stock #

IGL01660

Quality Score

Status

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39775254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 333 (S333P)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

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

AlphaFold

P56657

Predicted Effect

probably damaging
Transcript: ENSMUST00000160476
AA Change: S333P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: S333P

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	G	19: 34,229,191 (GRCm39)	I66T	probably damaging	Het
Actl11	T	C	9: 107,806,247 (GRCm39)	V190A	probably benign	Het
Ankub1	T	A	3: 57,597,817 (GRCm39)	Y51F	possibly damaging	Het
Armh3	A	T	19: 45,928,915 (GRCm39)	L393H	probably damaging	Het
Ccdc63	G	A	5: 122,249,027 (GRCm39)	S434L	possibly damaging	Het
Cdan1	T	A	2: 120,556,134 (GRCm39)	I711F	possibly damaging	Het
Cep170b	C	A	12: 112,710,594 (GRCm39)	N1474K	probably damaging	Het
Dars1	A	G	1: 128,343,081 (GRCm39)		probably benign	Het
Dock3	T	A	9: 106,909,563 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,360,471 (GRCm39)	I359V	possibly damaging	Het
Fut8	T	G	12: 77,497,032 (GRCm39)	L414*	probably null	Het
Gja1	A	G	10: 56,264,544 (GRCm39)	Y301C	probably damaging	Het
Glipr1l1	T	C	10: 111,908,184 (GRCm39)	S161P	probably damaging	Het
Gpat4	A	T	8: 23,665,354 (GRCm39)		probably null	Het
Grhl1	T	A	12: 24,658,577 (GRCm39)		probably null	Het
Hectd3	T	C	4: 116,853,569 (GRCm39)	V181A	possibly damaging	Het
Htr2a	T	A	14: 74,943,194 (GRCm39)	I258N	probably damaging	Het
Hyou1	T	A	9: 44,292,414 (GRCm39)	D83E	possibly damaging	Het
Myh10	T	A	11: 68,676,715 (GRCm39)	L862Q	probably benign	Het
Nkx2-2	T	C	2: 147,027,833 (GRCm39)	S36G	probably benign	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Nuak2	T	C	1: 132,259,308 (GRCm39)	V362A	probably benign	Het
Nyap2	G	A	1: 81,169,642 (GRCm39)	C133Y	probably damaging	Het
Oas2	T	C	5: 120,879,288 (GRCm39)	T351A	probably benign	Het
Or11m3	C	T	15: 98,396,076 (GRCm39)	T241I	probably damaging	Het
Or5m13	T	C	2: 85,748,908 (GRCm39)	I213T	probably benign	Het
Pde4d	A	T	13: 110,074,606 (GRCm39)	I404F	probably damaging	Het
Pga5	A	G	19: 10,652,456 (GRCm39)	S95P	probably damaging	Het
Pitpnm2	A	T	5: 124,261,257 (GRCm39)	D947E	probably damaging	Het
Pla2g10	C	T	16: 13,545,950 (GRCm39)	R28H	probably damaging	Het
Prlr	A	G	15: 10,317,676 (GRCm39)	D84G	probably damaging	Het
Rbm15b	C	T	9: 106,762,908 (GRCm39)	G420D	probably damaging	Het
Tbcd	A	G	11: 121,496,153 (GRCm39)	T1063A	probably benign	Het
Tmc2	C	T	2: 130,102,144 (GRCm39)	Q770*	probably null	Het
Tpo	T	C	12: 30,169,399 (GRCm39)		probably benign	Het
Vim	A	G	2: 13,579,624 (GRCm39)	N128D	probably damaging	Het
Vmn1r21	A	T	6: 57,821,222 (GRCm39)	I74N	probably damaging	Het
Vmn2r52	A	C	7: 9,893,107 (GRCm39)	I677M	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
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
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

2014-01-21