Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Cyp1b1'

60983

Institutional Source

Beutler Lab

Gene Symbol

Cyp1b1

Ensembl Gene

ENSMUSG00000024087

Gene Name

cytochrome P450, family 1, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R0681 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

80014369-80022490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80021275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000024894 (fasta)

Gene Model

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

AlphaFold

Q64429

Predicted Effect

probably damaging
Transcript: ENSMUST00000024894
AA Change: S156P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024894
Gene: ENSMUSG00000024087
AA Change: S156P

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	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
R2851:Cyp1b1	UTSW	17	80,017,649 (GRCm39)	missense	probably benign	0.00
R2897:Cyp1b1	UTSW	17	80,021,160 (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'- CCAGAACGAAGTTGCTGAAGTTGC -3'
(R):5'- AATGGAGAGAGTGCCATCCACCAG -3'

Sequencing Primer
(F):5'- CTGAGCAGCTCTAGGAACTC -3'
(R):5'- GGCGTTCGGTCACTACTCT -3'

Posted On

2013-07-30