Mutagenetix > Incidental Mutation

Incidental Mutation 'R2897:Cyp1b1'

260879

Institutional Source

Beutler Lab

Gene Symbol

Cyp1b1

Ensembl Gene

ENSMUSG00000024087

Gene Name

cytochrome P450, family 1, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

040485-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R2897 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

80014369-80022490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80021160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 194 (T194M)

Ref Sequence

ENSEMBL: ENSMUSP00000024894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024894]

AlphaFold

Q64429

Predicted Effect

probably benign
Transcript: ENSMUST00000024894
AA Change: T194M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024894
Gene: ENSMUSG00000024087
AA Change: T194M

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:p450	51	520	1.3e-100	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,640 (GRCm39)	V1015A	probably benign	Het
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adamts14	T	C	10: 61,040,689 (GRCm39)	D879G	probably damaging	Het
Akap1	A	T	11: 88,735,605 (GRCm39)	C352*	probably null	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Ankrd6	T	C	4: 32,860,438 (GRCm39)	S2G	probably damaging	Het
Anks1	G	T	17: 28,204,337 (GRCm39)		probably null	Het
Apob	G	A	12: 8,060,356 (GRCm39)	G2946D	probably damaging	Het
Atm	A	C	9: 53,419,105 (GRCm39)	C782W	probably damaging	Het
Atp1a4	A	T	1: 172,074,257 (GRCm39)	I332N	probably damaging	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Cdh20	A	T	1: 104,875,199 (GRCm39)	D327V	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Csn1s2a	A	G	5: 87,929,680 (GRCm39)	H93R	unknown	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dbt	T	A	3: 116,317,061 (GRCm39)	V79E	probably damaging	Het
Dcx	A	G	X: 142,706,428 (GRCm39)		probably benign	Het
Dnm3	G	A	1: 162,113,643 (GRCm39)		probably benign	Het
Erbin	C	T	13: 104,022,705 (GRCm39)	E45K	probably damaging	Het
Fastkd1	A	G	2: 69,532,960 (GRCm39)	L469P	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10271	A	G	10: 116,808,495 (GRCm39)	L7S	probably damaging	Het
Gm5087	T	C	14: 13,158,805 (GRCm38)		noncoding transcript	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmcn1	C	T	1: 150,678,624 (GRCm39)	C499Y	probably damaging	Het
Ifna1	C	A	4: 88,768,450 (GRCm39)	Q43K	probably benign	Het
Ikbkb	G	T	8: 23,159,693 (GRCm39)	Q432K	possibly damaging	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Krt78	T	C	15: 101,855,541 (GRCm39)	R757G	probably benign	Het
Lmx1a	T	A	1: 167,658,109 (GRCm39)		probably benign	Het
Lpxn	T	A	19: 12,796,722 (GRCm39)	S81T	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mis18bp1	T	C	12: 65,180,360 (GRCm39)	D981G	probably benign	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Mtrf1l	T	C	10: 5,767,565 (GRCm39)	R184G	probably benign	Het
Muc19	T	C	15: 91,822,550 (GRCm39)		noncoding transcript	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Nlrc4	T	A	17: 74,755,040 (GRCm39)	M59L	probably benign	Het
Nuak2	A	T	1: 132,252,791 (GRCm39)	H115L	probably damaging	Het
Oog1	T	A	12: 87,655,178 (GRCm39)	I272K	probably damaging	Het
Or10aa1	T	C	1: 173,869,699 (GRCm39)	F61S	probably damaging	Het
Or52a20	A	T	7: 103,366,749 (GRCm39)	Y316F	probably benign	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Pde5a	T	C	3: 122,572,651 (GRCm39)	I344T	probably benign	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pja1	T	C	X: 98,510,754 (GRCm39)	E385G	probably benign	Het
Psma6	A	T	12: 55,454,829 (GRCm39)	I53L	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Shroom2	G	T	X: 151,443,035 (GRCm39)	T710K	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a7	A	G	8: 96,572,424 (GRCm39)		probably benign	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmeff1	T	A	4: 48,658,831 (GRCm39)	Y101*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	A	2: 76,549,500 (GRCm39)	T23399S	probably damaging	Het
Vipas39	A	G	12: 87,289,297 (GRCm39)	V389A	possibly damaging	Het
Vps41	T	C	13: 18,994,598 (GRCm39)		probably benign	Het
Zfp329	A	T	7: 12,544,413 (GRCm39)	H370Q	probably damaging	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het

Other mutations in Cyp1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0387:Cyp1b1	UTSW	17	80,021,203 (GRCm39)	missense	probably benign
R0400:Cyp1b1	UTSW	17	80,021,016 (GRCm39)	missense	probably damaging	1.00
R0456:Cyp1b1	UTSW	17	80,017,704 (GRCm39)	missense	probably benign	0.02
R0681:Cyp1b1	UTSW	17	80,021,275 (GRCm39)	missense	probably damaging	0.97
R2851:Cyp1b1	UTSW	17	80,017,649 (GRCm39)	missense	probably benign	0.00
R4706:Cyp1b1	UTSW	17	80,020,771 (GRCm39)	missense	possibly damaging	0.86
R5070:Cyp1b1	UTSW	17	80,018,040 (GRCm39)	missense	probably benign
R6104:Cyp1b1	UTSW	17	80,017,634 (GRCm39)	missense	probably damaging	1.00
R6195:Cyp1b1	UTSW	17	80,021,695 (GRCm39)	missense	probably damaging	1.00
R6233:Cyp1b1	UTSW	17	80,021,695 (GRCm39)	missense	probably damaging	1.00
R7440:Cyp1b1	UTSW	17	80,020,986 (GRCm39)	missense	probably damaging	0.99
R7770:Cyp1b1	UTSW	17	80,020,728 (GRCm39)	missense	probably damaging	1.00
R7894:Cyp1b1	UTSW	17	80,021,644 (GRCm39)	missense	possibly damaging	0.81
R7982:Cyp1b1	UTSW	17	80,017,919 (GRCm39)	missense	probably damaging	1.00
R8241:Cyp1b1	UTSW	17	80,021,223 (GRCm39)	missense	probably damaging	1.00
R8528:Cyp1b1	UTSW	17	80,017,993 (GRCm39)	missense	probably damaging	1.00
R8814:Cyp1b1	UTSW	17	80,020,788 (GRCm39)	missense	probably benign	0.02
R9743:Cyp1b1	UTSW	17	80,017,808 (GRCm39)	missense	probably benign	0.33
X0067:Cyp1b1	UTSW	17	80,018,120 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAAGTTGCTGAAGTTGCGG -3'
(R):5'- CTACTCTGAGCACTGGAAGAC -3'

Sequencing Primer
(F):5'- TGCTCGAACTTGCGGAAG -3'
(R):5'- CACTGGAAGACGCAGCGAC -3'

Posted On

2015-01-23