Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Cyp2b19'

74695

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

26456567-26472055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26458842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 138 (M138I)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077855]

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855
AA Change: M138I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: M138I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:p450	32	489	8.7e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132315

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,591,014 (GRCm39)	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,984,234 (GRCm39)	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,232,581 (GRCm39)	I195V	probably damaging	Het
Casp7	T	C	19: 56,392,896 (GRCm39)	S17P	probably benign	Het
Cfap298	T	C	16: 90,722,936 (GRCm39)	N266S	possibly damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpvl	T	A	6: 53,951,640 (GRCm39)	S48C	possibly damaging	Het
Dennd5a	T	C	7: 109,518,611 (GRCm39)	Y510C	possibly damaging	Het
Derl2	A	G	11: 70,901,181 (GRCm39)	F229S	possibly damaging	Het
Dlec1	A	G	9: 118,949,979 (GRCm39)	E452G	probably damaging	Het
Dsc2	T	C	18: 20,180,214 (GRCm39)	K180E	probably benign	Het
Dus1l	G	A	11: 120,683,918 (GRCm39)	R177C	possibly damaging	Het
Egfr	A	G	11: 16,813,020 (GRCm39)	I167V	probably damaging	Het
Fam219b	A	T	9: 57,445,305 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,665,369 (GRCm39)	E916G	probably damaging	Het
Gm2058	C	T	7: 39,238,580 (GRCm39)		noncoding transcript	Het
Gpd1	T	A	15: 99,616,056 (GRCm39)	V22E	probably damaging	Het
Hsf2	T	C	10: 57,377,475 (GRCm39)	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,708,336 (GRCm39)		probably benign	Het
Igfbp3	A	T	11: 7,158,478 (GRCm39)	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,284,501 (GRCm39)	Y62H	probably damaging	Het
Lama2	C	T	10: 27,064,268 (GRCm39)	E1238K	probably benign	Het
Man1b1	A	G	2: 25,228,239 (GRCm39)	K170E	probably benign	Het
Mcrs1	A	T	15: 99,147,382 (GRCm39)	I39N	probably damaging	Het
Mug2	T	C	6: 122,026,587 (GRCm39)		probably benign	Het
Neu3	C	A	7: 99,462,629 (GRCm39)	G365W	probably damaging	Het
Nipal3	A	C	4: 135,199,194 (GRCm39)		probably null	Het
Nrxn3	A	G	12: 89,221,804 (GRCm39)	I528V	possibly damaging	Het
Or10al6	A	T	17: 38,082,730 (GRCm39)	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,103,608 (GRCm39)	K204R	probably damaging	Het
Pax8	A	G	2: 24,325,931 (GRCm39)	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,710,590 (GRCm39)	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,786,259 (GRCm39)	K649*	probably null	Het
Ppm1n	A	T	7: 19,013,179 (GRCm39)	D257E	probably benign	Het
Pxdn	A	G	12: 30,052,796 (GRCm39)	E811G	probably damaging	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rtkn2	G	T	10: 67,861,349 (GRCm39)	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,613,227 (GRCm39)		probably benign	Het
Snx8	G	A	5: 140,343,851 (GRCm39)	R96C	probably damaging	Het
Syne2	A	T	12: 76,107,000 (GRCm39)	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,344,970 (GRCm39)	C82*	probably null	Het
Tnpo2	T	C	8: 85,767,155 (GRCm39)	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,324,836 (GRCm39)		probably benign	Het
Ttll3	T	G	6: 113,371,690 (GRCm39)	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119 (GRCm39)	I86V	probably benign	Het
Vps13d	G	A	4: 144,814,892 (GRCm39)	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636 (GRCm39)	I753T	probably damaging	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26,462,886 (GRCm39)	missense	possibly damaging	0.91
IGL01374:Cyp2b19	APN	7	26,458,504 (GRCm39)	missense	probably benign	0.06
IGL01613:Cyp2b19	APN	7	26,462,886 (GRCm39)	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26,458,489 (GRCm39)	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26,461,803 (GRCm39)	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26,461,809 (GRCm39)	missense	probably benign
R0047:Cyp2b19	UTSW	7	26,466,251 (GRCm39)	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26,466,251 (GRCm39)	missense	probably benign	0.01
R0452:Cyp2b19	UTSW	7	26,466,187 (GRCm39)	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26,461,654 (GRCm39)	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26,466,585 (GRCm39)	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26,462,765 (GRCm39)	splice site	probably null
R2362:Cyp2b19	UTSW	7	26,463,802 (GRCm39)	missense	probably damaging	1.00
R4015:Cyp2b19	UTSW	7	26,461,768 (GRCm39)	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26,462,807 (GRCm39)	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26,470,819 (GRCm39)	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26,456,717 (GRCm39)	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26,463,801 (GRCm39)	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26,466,246 (GRCm39)	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26,462,844 (GRCm39)	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26,458,852 (GRCm39)	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26,458,519 (GRCm39)	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26,470,817 (GRCm39)	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26,462,783 (GRCm39)	missense	probably benign	0.07
R6519:Cyp2b19	UTSW	7	26,458,536 (GRCm39)	missense	probably benign
R6656:Cyp2b19	UTSW	7	26,466,280 (GRCm39)	missense	probably benign
R7283:Cyp2b19	UTSW	7	26,466,339 (GRCm39)	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26,458,489 (GRCm39)	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26,461,768 (GRCm39)	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26,470,769 (GRCm39)	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26,466,565 (GRCm39)	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26,470,675 (GRCm39)	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26,456,645 (GRCm39)	missense	possibly damaging	0.53
R9574:Cyp2b19	UTSW	7	26,466,353 (GRCm39)	missense	probably null	1.00
R9574:Cyp2b19	UTSW	7	26,466,352 (GRCm39)	missense	probably damaging	1.00
R9650:Cyp2b19	UTSW	7	26,466,208 (GRCm39)	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26,466,328 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07