Mutagenetix > Incidental Mutation

Incidental Mutation 'R6519:Cyp2b19'

520999

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

MMRRC Submission

044646-MU

Accession Numbers

Essential gene?

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

Stock #

R6519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26456567-26472055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26458536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855
AA Change: T84A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: T84A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.7%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,723 (GRCm39)	I53T	probably damaging	Het
Adgrv1	C	T	13: 81,715,462 (GRCm39)	D909N	probably benign	Het
Ahdc1	T	C	4: 132,792,079 (GRCm39)	Y1107H	possibly damaging	Het
Aldob	A	T	4: 49,543,835 (GRCm39)	V49E	probably damaging	Het
Apol6	T	A	15: 76,935,476 (GRCm39)	Y248*	probably null	Het
Apol7b	T	A	15: 77,307,548 (GRCm39)	T316S	probably benign	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
Brca2	A	C	5: 150,464,444 (GRCm39)	T1403P	probably damaging	Het
Cblc	T	C	7: 19,526,788 (GRCm39)	Y148C	probably damaging	Het
Cct7	C	A	6: 85,439,132 (GRCm39)	Q149K	probably benign	Het
Cd53	T	A	3: 106,669,461 (GRCm39)	H179L	probably benign	Het
Cyp3a41a	A	G	5: 145,652,308 (GRCm39)	C64R	probably damaging	Het
Dclre1c	T	C	2: 3,430,366 (GRCm39)	Y75H	probably damaging	Het
Dhx35	A	T	2: 158,673,630 (GRCm39)	I354F	probably damaging	Het
Diaph3	T	C	14: 87,203,771 (GRCm39)	N629S	probably damaging	Het
Dnase1	A	T	16: 3,856,453 (GRCm39)	S132C	probably damaging	Het
Dnttip2	T	C	3: 122,069,120 (GRCm39)	S112P	probably benign	Het
Eif4g3	C	A	4: 137,721,319 (GRCm39)	P48T	probably benign	Het
Fat4	A	T	3: 39,057,020 (GRCm39)	T4239S	probably benign	Het
Fbn2	A	G	18: 58,196,647 (GRCm39)	V1419A	possibly damaging	Het
Ghitm	A	C	14: 36,847,204 (GRCm39)	M290R	probably damaging	Het
Glb1l	T	C	1: 75,177,700 (GRCm39)	D406G	probably benign	Het
Glipr1l1	C	A	10: 111,898,153 (GRCm39)	A86D	probably benign	Het
Golm2	T	C	2: 121,737,218 (GRCm39)	V141A	probably benign	Het
Grm7	C	T	6: 111,184,713 (GRCm39)	A348V	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdac2	T	A	10: 36,865,252 (GRCm39)	N155K	probably damaging	Het
Hus1b	A	G	13: 31,130,930 (GRCm39)	I243T	probably benign	Het
Kcnab2	T	C	4: 152,496,450 (GRCm39)	T65A	probably damaging	Het
Lasp1	T	A	11: 97,706,383 (GRCm39)		probably null	Het
Lrch3	G	A	16: 32,815,367 (GRCm39)		probably benign	Het
Ltb4r2	C	T	14: 56,000,438 (GRCm39)	T353M	probably benign	Het
Macf1	A	G	4: 123,366,118 (GRCm39)	M1316T	probably benign	Het
Msr1	G	A	8: 40,077,262 (GRCm39)	T116I	probably benign	Het
Nlrp5	A	G	7: 23,117,343 (GRCm39)	I356V	probably benign	Het
Npy	C	T	6: 49,800,669 (GRCm39)	S31F	possibly damaging	Het
Nsd3	C	T	8: 26,152,955 (GRCm39)	P432S	probably damaging	Het
Nup160	A	C	2: 90,548,561 (GRCm39)	R1037S	probably damaging	Het
Or12j4	T	A	7: 140,046,458 (GRCm39)	S115T	probably benign	Het
Or4b1d	A	T	2: 89,969,156 (GRCm39)	I109N	possibly damaging	Het
Or8s5	C	T	15: 98,237,929 (GRCm39)	G314R	probably benign	Het
Pcx	A	G	19: 4,652,239 (GRCm39)	E108G	possibly damaging	Het
Pecam1	A	T	11: 106,590,468 (GRCm39)	M102K	probably benign	Het
Pgd	G	T	4: 149,235,343 (GRCm39)	Y433*	probably null	Het
Pkd1l3	A	G	8: 110,355,404 (GRCm39)	E744G	probably benign	Het
Rb1	A	G	14: 73,535,503 (GRCm39)	I118T	probably benign	Het
Rdh11	T	A	12: 79,229,589 (GRCm39)	H228L	probably damaging	Het
Rnf44	C	T	13: 54,829,599 (GRCm39)	R340Q	probably damaging	Het
Rtraf	A	G	14: 19,869,998 (GRCm39)	V88A	possibly damaging	Het
Sigmar1	T	C	4: 41,739,380 (GRCm39)	T185A	possibly damaging	Het
Thsd1	A	G	8: 22,749,081 (GRCm39)	R590G	probably damaging	Het
Trappc14	A	G	5: 138,260,110 (GRCm39)	S344P	probably damaging	Het
Trbv19	T	C	6: 41,155,573 (GRCm39)		probably benign	Het
Txnrd3	T	C	6: 89,631,405 (GRCm39)		probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xpnpep1	T	C	19: 53,000,275 (GRCm39)	N192D	possibly damaging	Het
Zfp955b	T	A	17: 33,521,051 (GRCm39)	S173R	possibly damaging	Het
Zranb1	T	A	7: 132,551,857 (GRCm39)	C195*	probably null	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
IGL01338:Cyp2b19	APN	7	26,458,842 (GRCm39)	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- TCAACTCTTAGGTCCTCAGAAGG -3'
(R):5'- CAGAGAATCCCCAGTCCTTTCC -3'

Sequencing Primer
(F):5'- CTCTTAGGTCCTCAGAAGGGGAAG -3'
(R):5'- AGTCCTTTCCCATGGCTTGG -3'

Posted On

2018-06-06