Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01374:Cyp2b19'

78637

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: 0.062) question?

Stock #

IGL01374

Quality Score

Status

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26759079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 73 (P73L)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855
AA Change: P73L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: P73L

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 131,146,101	H54R	probably benign	Het
Acsl6	T	C	11: 54,338,419	V359A	probably damaging	Het
Aldh3a2	C	T	11: 61,249,002	V435I	probably benign	Het
Atm	A	T	9: 53,531,724	S80T	possibly damaging	Het
Atp8b4	A	T	2: 126,383,657		probably benign	Het
Atxn1	T	C	13: 45,568,427		probably benign	Het
Chd3	T	C	11: 69,359,980	E641G	probably damaging	Het
Clpb	T	C	7: 101,773,128	V346A	probably damaging	Het
Ctnnbl1	T	A	2: 157,836,693		probably null	Het
Dcc	T	C	18: 71,374,553	Y916C	probably damaging	Het
Fat4	A	G	3: 38,887,498	N180S	probably damaging	Het
Foxi1	A	C	11: 34,207,984	C14G	probably damaging	Het
Fut4	G	T	9: 14,751,490	F169L	probably benign	Het
Grip1	T	C	10: 120,049,368	S748P	probably benign	Het
Hnrnpr	T	C	4: 136,327,418		probably benign	Het
Ifnz	G	A	4: 88,783,341		probably benign	Het
Krt28	A	G	11: 99,371,468	V232A	probably benign	Het
Lyar	C	A	5: 38,228,047		probably null	Het
Manba	G	A	3: 135,554,780	W575*	probably null	Het
Morc3	T	A	16: 93,844,213	D44E	probably damaging	Het
Mrc2	T	A	11: 105,347,643	Y1205*	probably null	Het
Myh2	A	T	11: 67,177,424	T293S	probably benign	Het
Nlrp10	T	A	7: 108,924,581	K564I	possibly damaging	Het
Nuak1	A	G	10: 84,374,668	S519P	probably damaging	Het
Olfr1158	T	C	2: 87,990,548	F146L	probably benign	Het
Olfr358	T	C	2: 37,004,930	H228R	probably benign	Het
Padi2	T	A	4: 140,933,185	N325K	probably damaging	Het
Pcdhb19	A	T	18: 37,497,989	Y279F	probably damaging	Het
Phldb1	A	G	9: 44,696,167	L1247P	probably damaging	Het
Rmdn3	A	G	2: 119,153,947	V108A	probably damaging	Het
Slc22a5	A	G	11: 53,867,664	F437L	probably benign	Het
Slc3a2	C	T	19: 8,713,337		probably null	Het
Slc5a3	T	A	16: 92,077,118	M21K	probably benign	Het
Spink5	T	A	18: 43,989,404	F312Y	possibly damaging	Het
Stab1	T	C	14: 31,147,075	Y1531C	probably damaging	Het
Tln2	C	A	9: 67,261,923	A433S	probably damaging	Het
Usp24	C	T	4: 106,380,099	L1076F	possibly damaging	Het
Vmn2r117	T	C	17: 23,478,382	Y112C	possibly damaging	Het
Vmn2r16	C	T	5: 109,330,417	L13F	probably benign	Het
Vmn2r76	T	C	7: 86,225,649	M707V	probably benign	Het
Zmym4	A	T	4: 126,868,957	F1358I	probably damaging	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26763461	missense	possibly damaging	0.91
IGL01338:Cyp2b19	APN	7	26759417	missense	probably benign	0.09
IGL01613:Cyp2b19	APN	7	26763461	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26759064	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26762378	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26762384	missense	probably benign
R0047:Cyp2b19	UTSW	7	26766826	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26766826	missense	probably benign	0.01
R0452:Cyp2b19	UTSW	7	26766762	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26762229	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26767160	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26763340	splice site	probably null
R2362:Cyp2b19	UTSW	7	26764377	missense	probably damaging	1.00
R4015:Cyp2b19	UTSW	7	26762343	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26763382	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26771394	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26757292	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26764376	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26766821	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26763419	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26759427	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26759094	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26771392	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26763358	missense	probably benign	0.07
R6519:Cyp2b19	UTSW	7	26759111	missense	probably benign
R6656:Cyp2b19	UTSW	7	26766855	missense	probably benign
R7283:Cyp2b19	UTSW	7	26766914	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26759064	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26762343	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26771344	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26767140	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26771250	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26757220	missense	possibly damaging	0.53
R9574:Cyp2b19	UTSW	7	26766927	missense	probably damaging	1.00
R9574:Cyp2b19	UTSW	7	26766928	missense	probably null	1.00
R9650:Cyp2b19	UTSW	7	26766783	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26766903	missense	probably benign	0.00

Posted On

2013-11-05