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: 0.058) question?

Stock #

R6519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26759111 bp (GRCm38)

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: 99,613,670 (GRCm38)	I53T	probably damaging	Het
Adgrv1	C	T	13: 81,567,343 (GRCm38)	D909N	probably benign	Het
Ahdc1	T	C	4: 133,064,768 (GRCm38)	Y1107H	possibly damaging	Het
Aldob	A	T	4: 49,543,835 (GRCm38)	V49E	probably damaging	Het
Apol6	T	A	15: 77,051,276 (GRCm38)	Y248*	probably null	Het
Apol7b	T	A	15: 77,423,348 (GRCm38)	T316S	probably benign	Het
Atp13a2	G	C	4: 141,000,854 (GRCm38)	R503P	possibly damaging	Het
BC037034	A	G	5: 138,261,848 (GRCm38)	S344P	probably damaging	Het
Brca2	A	C	5: 150,540,979 (GRCm38)	T1403P	probably damaging	Het
Casc4	T	C	2: 121,906,737 (GRCm38)	V141A	probably benign	Het
Cblc	T	C	7: 19,792,863 (GRCm38)	Y148C	probably damaging	Het
Cct7	C	A	6: 85,462,150 (GRCm38)	Q149K	probably benign	Het
Cd53	T	A	3: 106,762,145 (GRCm38)	H179L	probably benign	Het
Cyp3a41a	A	G	5: 145,715,498 (GRCm38)	C64R	probably damaging	Het
Dclre1c	T	C	2: 3,429,329 (GRCm38)	Y75H	probably damaging	Het
Dhx35	A	T	2: 158,831,710 (GRCm38)	I354F	probably damaging	Het
Diaph3	T	C	14: 86,966,335 (GRCm38)	N629S	probably damaging	Het
Dnase1	A	T	16: 4,038,589 (GRCm38)	S132C	probably damaging	Het
Dnttip2	T	C	3: 122,275,471 (GRCm38)	S112P	probably benign	Het
Eif4g3	C	A	4: 137,994,008 (GRCm38)	P48T	probably benign	Het
Fat4	A	T	3: 39,002,871 (GRCm38)	T4239S	probably benign	Het
Fbn2	A	G	18: 58,063,575 (GRCm38)	V1419A	possibly damaging	Het
Ghitm	A	C	14: 37,125,247 (GRCm38)	M290R	probably damaging	Het
Glb1l	T	C	1: 75,201,056 (GRCm38)	D406G	probably benign	Het
Glipr1l1	C	A	10: 112,062,248 (GRCm38)	A86D	probably benign	Het
Grm7	C	T	6: 111,207,752 (GRCm38)	A348V	probably benign	Het
Gtf2h3	C	T	5: 124,584,297 (GRCm38)	T121I	probably benign	Het
Hdac2	T	A	10: 36,989,256 (GRCm38)	N155K	probably damaging	Het
Hus1b	A	G	13: 30,946,947 (GRCm38)	I243T	probably benign	Het
Kcnab2	T	C	4: 152,411,993 (GRCm38)	T65A	probably damaging	Het
Lasp1	T	A	11: 97,815,557 (GRCm38)		probably null	Het
Lrch3	G	A	16: 32,994,997 (GRCm38)		probably benign	Het
Ltb4r2	C	T	14: 55,762,981 (GRCm38)	T353M	probably benign	Het
Macf1	A	G	4: 123,472,325 (GRCm38)	M1316T	probably benign	Het
Msr1	G	A	8: 39,624,221 (GRCm38)	T116I	probably benign	Het
Nlrp5	A	G	7: 23,417,918 (GRCm38)	I356V	probably benign	Het
Npy	C	T	6: 49,823,689 (GRCm38)	S31F	possibly damaging	Het
Nsd3	C	T	8: 25,662,939 (GRCm38)	P432S	probably damaging	Het
Nup160	A	C	2: 90,718,217 (GRCm38)	R1037S	probably damaging	Het
Olfr284	C	T	15: 98,340,048 (GRCm38)	G314R	probably benign	Het
Olfr32	A	T	2: 90,138,812 (GRCm38)	I109N	possibly damaging	Het
Olfr533	T	A	7: 140,466,545 (GRCm38)	S115T	probably benign	Het
Pcx	A	G	19: 4,602,211 (GRCm38)	E108G	possibly damaging	Het
Pecam1	A	T	11: 106,699,642 (GRCm38)	M102K	probably benign	Het
Pgd	G	T	4: 149,150,886 (GRCm38)	Y433*	probably null	Het
Pkd1l3	A	G	8: 109,628,772 (GRCm38)	E744G	probably benign	Het
Rb1	A	G	14: 73,298,063 (GRCm38)	I118T	probably benign	Het
Rdh11	T	A	12: 79,182,815 (GRCm38)	H228L	probably damaging	Het
Rnf44	C	T	13: 54,681,786 (GRCm38)	R340Q	probably damaging	Het
Rtraf	A	G	14: 19,819,930 (GRCm38)	V88A	possibly damaging	Het
Sigmar1	T	C	4: 41,739,380 (GRCm38)	T185A	possibly damaging	Het
Thsd1	A	G	8: 22,259,065 (GRCm38)	R590G	probably damaging	Het
Trbv19	T	C	6: 41,178,639 (GRCm38)		probably benign	Het
Txnrd3	T	C	6: 89,654,423 (GRCm38)		probably null	Het
Wwc1	C	T	11: 35,853,437 (GRCm38)	E853K	probably benign	Het
Xpnpep1	T	C	19: 53,011,844 (GRCm38)	N192D	possibly damaging	Het
Zfp955b	T	A	17: 33,302,077 (GRCm38)	S173R	possibly damaging	Het
Zranb1	T	A	7: 132,950,128 (GRCm38)	C195*	probably null	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26,763,461 (GRCm38)	missense	possibly damaging	0.91
IGL01338:Cyp2b19	APN	7	26,759,417 (GRCm38)	missense	probably benign	0.09
IGL01374:Cyp2b19	APN	7	26,759,079 (GRCm38)	missense	probably benign	0.06
IGL01613:Cyp2b19	APN	7	26,763,461 (GRCm38)	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26,759,064 (GRCm38)	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26,762,378 (GRCm38)	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26,762,384 (GRCm38)	missense	probably benign
R0047:Cyp2b19	UTSW	7	26,766,826 (GRCm38)	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26,766,826 (GRCm38)	missense	probably benign	0.01
R0452:Cyp2b19	UTSW	7	26,766,762 (GRCm38)	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26,762,229 (GRCm38)	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26,767,160 (GRCm38)	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26,763,340 (GRCm38)	splice site	probably null
R2362:Cyp2b19	UTSW	7	26,764,377 (GRCm38)	missense	probably damaging	1.00
R4015:Cyp2b19	UTSW	7	26,762,343 (GRCm38)	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26,763,382 (GRCm38)	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26,771,394 (GRCm38)	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26,757,292 (GRCm38)	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26,764,376 (GRCm38)	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26,766,821 (GRCm38)	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26,763,419 (GRCm38)	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26,759,427 (GRCm38)	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26,759,094 (GRCm38)	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26,771,392 (GRCm38)	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26,763,358 (GRCm38)	missense	probably benign	0.07
R6656:Cyp2b19	UTSW	7	26,766,855 (GRCm38)	missense	probably benign
R7283:Cyp2b19	UTSW	7	26,766,914 (GRCm38)	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26,759,064 (GRCm38)	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26,762,343 (GRCm38)	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26,771,344 (GRCm38)	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26,767,140 (GRCm38)	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26,771,250 (GRCm38)	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26,757,220 (GRCm38)	missense	possibly damaging	0.53
R9574:Cyp2b19	UTSW	7	26,766,928 (GRCm38)	missense	probably null	1.00
R9574:Cyp2b19	UTSW	7	26,766,927 (GRCm38)	missense	probably damaging	1.00
R9650:Cyp2b19	UTSW	7	26,766,783 (GRCm38)	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26,766,903 (GRCm38)	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