Mutagenetix > Incidental Mutation

Incidental Mutation 'R0865:Cyp2b19'

82299

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

MMRRC Submission

039039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 26762229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138018

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,595,643	E581G	probably damaging	Het
Adcy5	A	G	16: 35,274,471	N666S	probably damaging	Het
Apcs	T	C	1: 172,894,215	D188G	probably benign	Het
Arih2	A	G	9: 108,649,300		probably benign	Het
AU040320	A	G	4: 126,848,884	K981E	possibly damaging	Het
Brwd1	A	T	16: 96,068,584	I81K	probably damaging	Het
Cacng8	T	A	7: 3,412,109	I136N	possibly damaging	Het
Ccdc114	A	G	7: 45,942,088	T259A	probably benign	Het
Cdh22	A	T	2: 165,181,056	W32R	probably damaging	Het
Cel	A	G	2: 28,560,615	S133P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Clock	A	T	5: 76,266,424		probably benign	Het
Cox6a2	A	G	7: 128,205,823		probably benign	Het
Dnah11	G	A	12: 118,190,844	Q234*	probably null	Het
Gga3	A	T	11: 115,592,459	N91K	probably damaging	Het
Idh1	T	C	1: 65,161,156	T350A	probably benign	Het
Ints11	A	G	4: 155,887,107		probably null	Het
Itgb1	A	G	8: 128,710,251		probably null	Het
Kank4	A	T	4: 98,774,663		probably benign	Het
Kansl1	A	T	11: 104,424,368	D281E	probably benign	Het
Kmt2a	T	C	9: 44,818,770		probably benign	Het
Kpna4	T	C	3: 69,101,417	E145G	probably damaging	Het
Lacc1	A	G	14: 77,034,144	I201T	possibly damaging	Het
Larp7	T	C	3: 127,544,235	K392E	probably damaging	Het
Lbh	T	A	17: 72,921,229	M23K	probably benign	Het
Myo15	A	T	11: 60,491,688	E361V	probably damaging	Het
Ncor2	A	G	5: 125,038,982	S470P	probably benign	Het
Ngef	T	A	1: 87,484,601	M449L	probably benign	Het
Olfr18	T	A	9: 20,314,749	Y57F	probably damaging	Het
Olfr322	T	C	11: 58,665,652	I31T	possibly damaging	Het
Peak1	A	T	9: 56,257,832	D937E	probably benign	Het
Pnpla7	A	G	2: 24,982,123	K72E	probably benign	Het
Ptprn	T	G	1: 75,248,138		probably null	Het
Scgn	C	T	13: 23,962,119		probably null	Het
Sdk2	T	C	11: 113,850,922	I824V	probably benign	Het
Slc38a3	A	G	9: 107,655,648	S326P	probably damaging	Het
Spen	A	G	4: 141,471,870	S3126P	probably benign	Het
Tbcd	T	C	11: 121,602,989	C902R	possibly damaging	Het
Tmem63b	T	C	17: 45,661,519	I721V	probably benign	Het
Trim30c	A	G	7: 104,390,451	S46P	probably damaging	Het
Trim59	T	C	3: 69,037,608	D133G	probably damaging	Het
Trpm7	A	T	2: 126,799,239		probably null	Het
Ttll10	A	G	4: 156,043,678	L391P	probably damaging	Het
Ttn	T	C	2: 76,793,241	T15331A	possibly damaging	Het
Vmn1r237	C	T	17: 21,314,714	T233I	probably damaging	Het
Vmn2r115	A	T	17: 23,346,408	D423V	possibly damaging	Het
Vmn2r25	T	A	6: 123,853,017	R58S	probably benign	Het
Vmn2r71	A	T	7: 85,619,308	I240F	probably benign	Het
Wdr3	A	G	3: 100,152,796		probably benign	Het
Zc3h14	T	C	12: 98,779,269		probably null	Het
Zc3hav1	C	T	6: 38,353,902		probably benign	Het
Zfp335	A	T	2: 164,899,495		probably null	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
IGL01374:Cyp2b19	APN	7	26759079	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- CCCACTCTGTATGCTACCAACACTG -3'
(R):5'- CGCTCTAACCTGTTAAACATGCCCC -3'

Sequencing Primer
(F):5'- GCATCTTATGTCCGATATCCtgag -3'
(R):5'- TTCACCTACAAAGCAATCTCTTG -3'

Posted On

2013-11-08