Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02078:Cyp2c40'

186023

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 #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39755926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 463 (I463V)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

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

AlphaFold

P56657

Predicted Effect

probably benign
Transcript: ENSMUST00000160476
AA Change: I463V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: I463V

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,179 (GRCm39)	D87G	probably benign	Het
Acap1	C	T	11: 69,786,112 (GRCm39)	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,499,179 (GRCm39)	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,576,498 (GRCm39)	P112S	possibly damaging	Het
Chst8	T	A	7: 34,374,759 (GRCm39)	N360I	possibly damaging	Het
Cldn23	A	T	8: 36,293,359 (GRCm39)	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232 (GRCm39)	F168S	probably damaging	Het
E2f2	A	G	4: 135,920,323 (GRCm39)	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,622,611 (GRCm39)	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878 (GRCm39)	A60V	probably damaging	Het
Grm1	C	T	10: 10,565,354 (GRCm39)	V985M	probably benign	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Inf2	T	A	12: 112,568,048 (GRCm39)	V200E	probably damaging	Het
Kif20b	T	A	19: 34,913,044 (GRCm39)	V319E	probably damaging	Het
Klhl10	A	G	11: 100,336,577 (GRCm39)	D188G	probably benign	Het
Mobp	G	A	9: 119,996,980 (GRCm39)	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,153,204 (GRCm39)	D1086V	probably damaging	Het
Nadk	A	C	4: 155,663,860 (GRCm39)		probably benign	Het
Or7g33	T	A	9: 19,448,749 (GRCm39)	H159L	probably benign	Het
Per1	A	G	11: 68,995,125 (GRCm39)	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,796,652 (GRCm39)		probably benign	Het
Rimkla	A	G	4: 119,325,344 (GRCm39)	L355P	probably damaging	Het
Rnf139	A	G	15: 58,771,880 (GRCm39)	D635G	possibly damaging	Het
Sall1	T	A	8: 89,757,003 (GRCm39)	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,926,688 (GRCm39)	Q228L	probably damaging	Het
Sin3b	G	T	8: 73,480,208 (GRCm39)	M903I	possibly damaging	Het
Slco1a5	A	T	6: 142,200,172 (GRCm39)	M204K	probably benign	Het
Smo	A	G	6: 29,754,707 (GRCm39)	D259G	possibly damaging	Het
Spata31g1	A	C	4: 42,972,685 (GRCm39)	K673Q	possibly damaging	Het
Sult2a4	T	C	7: 13,723,469 (GRCm39)	I15M	probably benign	Het
Ttn	T	A	2: 76,772,785 (GRCm39)		probably null	Het
Wdtc1	C	A	4: 133,033,271 (GRCm39)	D176Y	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
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

2014-05-07