Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Cyp2b19'

278597

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

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26763461 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 256 (T256I)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077855
AA Change: T256I

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: T256I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	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
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

Posted On

2015-04-16