Mutagenetix > Incidental Mutation

Incidental Mutation 'R8935:Cyp20a1'

680543

Institutional Source

Beutler Lab

Gene Symbol

Cyp20a1

Ensembl Gene

ENSMUSG00000049439

Gene Name

cytochrome P450, family 20, subfamily a, polypeptide 1

Synonyms

A930011N14Rik

MMRRC Submission

068778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60382482-60427219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60410473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 258 (Q258R)

Ref Sequence

ENSEMBL: ENSMUSP00000050823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060608] [ENSMUST00000148443]

AlphaFold

Q8BKE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060608
AA Change: Q258R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439
AA Change: Q258R

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	40	456	1.5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148443

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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 that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	G	T	8: 117,698,181 (GRCm39)	Q309K	probably benign	Het
Adam20	T	C	8: 41,247,989 (GRCm39)	V33A	probably benign	Het
Ank	T	C	15: 27,591,112 (GRCm39)	V417A	probably damaging	Het
Arhgef17	C	T	7: 100,527,324 (GRCm39)	V779I	probably benign	Het
Atp6v0a1	T	A	11: 100,929,519 (GRCm39)	F440I	possibly damaging	Het
Brca2	T	G	5: 150,492,446 (GRCm39)	S3154A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cep128	C	T	12: 91,233,770 (GRCm39)	E433K	probably damaging	Het
Cep192	C	T	18: 67,995,543 (GRCm39)	T970I	probably damaging	Het
Chd2	T	C	7: 73,153,210 (GRCm39)	T249A	possibly damaging	Het
Cpd	C	T	11: 76,731,295 (GRCm39)	G304S	probably damaging	Het
Cpsf7	T	A	19: 10,509,345 (GRCm39)	Y85*	probably null	Het
Csf3r	T	A	4: 125,937,200 (GRCm39)	S695T	probably benign	Het
Ddi2	A	T	4: 141,412,600 (GRCm39)	L104Q	probably damaging	Het
Dpp8	T	C	9: 64,983,066 (GRCm39)	S733P	possibly damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Elapor2	C	T	5: 9,491,764 (GRCm39)	T708M	probably damaging	Het
Fgfr3	A	C	5: 33,892,810 (GRCm39)	D752A	probably damaging	Het
Fmod	C	A	1: 133,968,586 (GRCm39)	H209N	probably benign	Het
Gde1	C	T	7: 118,297,914 (GRCm39)	E101K	possibly damaging	Het
Gldc	C	T	19: 30,109,093 (GRCm39)	R615Q	probably benign	Het
Gli2	T	C	1: 118,764,122 (GRCm39)	E1343G	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm4847	A	G	1: 166,469,789 (GRCm39)	Y95H	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gtpbp3	A	G	8: 71,945,181 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,026,890 (GRCm39)	F733S	probably damaging	Het
Hgh1	C	G	15: 76,254,592 (GRCm39)	R323G	probably damaging	Het
Idh1	A	T	1: 65,204,378 (GRCm39)	I244N	probably damaging	Het
Idh2	T	C	7: 79,764,946 (GRCm39)	T27A	probably benign	Het
Igkv4-69	T	C	6: 69,260,912 (GRCm39)	T72A	possibly damaging	Het
Lmntd1	A	G	6: 145,489,229 (GRCm39)	Y11H	probably benign	Het
Myt1l	T	C	12: 29,877,243 (GRCm39)	M298T	unknown	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nfya	A	T	17: 48,700,294 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,767,586 (GRCm39)	D180G	probably damaging	Het
Or10ag60	A	G	2: 87,438,421 (GRCm39)	T230A	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,244 (GRCm39)	Q127L	unknown	Het
Osbpl6	T	C	2: 76,379,800 (GRCm39)	V130A	possibly damaging	Het
Prss44	T	A	9: 110,645,527 (GRCm39)	I94N	probably damaging	Het
Rbm6	C	T	9: 107,677,945 (GRCm39)	V15I	probably benign	Het
Rdh19	C	T	10: 127,685,929 (GRCm39)	L14F	possibly damaging	Het
Rtkn	T	C	6: 83,115,196 (GRCm39)	L14P	probably damaging	Het
Ryr3	A	T	2: 112,508,402 (GRCm39)	N3405K	probably benign	Het
Scp2	T	C	4: 107,950,072 (GRCm39)	E179G	probably damaging	Het
Sema3e	A	T	5: 14,282,127 (GRCm39)	K421I	probably damaging	Het
Sorcs2	C	T	5: 36,193,202 (GRCm39)	V755M	possibly damaging	Het
Spef2	T	C	15: 9,607,436 (GRCm39)	I1328V	probably damaging	Het
Speg	A	T	1: 75,399,250 (GRCm39)	K2232N	probably benign	Het
St7l	A	G	3: 104,778,204 (GRCm39)	I114V	probably damaging	Het
Stkld1	C	T	2: 26,833,941 (GRCm39)	Q143*	probably null	Het
Stox2	T	C	8: 47,645,895 (GRCm39)	T586A	possibly damaging	Het
Supt20	A	G	3: 54,634,988 (GRCm39)		probably null	Het
Tectb	G	T	19: 55,183,132 (GRCm39)	V338L	probably benign	Het
Tiam1	T	C	16: 89,681,821 (GRCm39)	N386D	probably damaging	Het
Trps1	G	A	15: 50,752,344 (GRCm39)	Q2*	probably null	Het
Usp36	C	T	11: 118,167,657 (GRCm39)		probably null	Het
Vmn1r198	C	T	13: 22,539,092 (GRCm39)	Q104*	probably null	Het
Vmn1r38	T	C	6: 66,753,979 (GRCm39)	T46A	probably benign	Het
Vmn2r110	A	G	17: 20,803,957 (GRCm39)	V206A	probably benign	Het
Vmn2r62	T	A	7: 42,437,791 (GRCm39)	D231V	probably benign	Het
Zfp143	T	C	7: 109,669,736 (GRCm39)	L55P	probably damaging	Het

Other mutations in Cyp20a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Cyp20a1	APN	1	60,410,410 (GRCm39)	missense	possibly damaging	0.79
IGL02725:Cyp20a1	APN	1	60,405,865 (GRCm39)	missense	probably benign	0.08
IGL03394:Cyp20a1	APN	1	60,405,840 (GRCm39)	missense	probably damaging	0.99
R0003:Cyp20a1	UTSW	1	60,426,285 (GRCm39)	splice site	probably benign
R0098:Cyp20a1	UTSW	1	60,426,413 (GRCm39)	nonsense	probably null
R0098:Cyp20a1	UTSW	1	60,426,413 (GRCm39)	nonsense	probably null
R0217:Cyp20a1	UTSW	1	60,382,625 (GRCm39)	splice site	probably benign
R0491:Cyp20a1	UTSW	1	60,410,486 (GRCm39)	missense	possibly damaging	0.71
R1543:Cyp20a1	UTSW	1	60,415,353 (GRCm39)	splice site	probably benign
R4519:Cyp20a1	UTSW	1	60,426,306 (GRCm39)	missense	probably damaging	1.00
R4621:Cyp20a1	UTSW	1	60,415,258 (GRCm39)	missense	probably benign
R4930:Cyp20a1	UTSW	1	60,405,878 (GRCm39)	missense	probably damaging	0.98
R4980:Cyp20a1	UTSW	1	60,402,373 (GRCm39)	missense	probably damaging	1.00
R5088:Cyp20a1	UTSW	1	60,402,509 (GRCm39)	missense	probably damaging	0.99
R5356:Cyp20a1	UTSW	1	60,418,546 (GRCm39)	missense	probably benign	0.08
R5545:Cyp20a1	UTSW	1	60,415,241 (GRCm39)	missense	possibly damaging	0.71
R5897:Cyp20a1	UTSW	1	60,392,220 (GRCm39)	missense	probably damaging	1.00
R5926:Cyp20a1	UTSW	1	60,402,401 (GRCm39)	missense	possibly damaging	0.52
R6317:Cyp20a1	UTSW	1	60,391,283 (GRCm39)	missense	probably damaging	1.00
R6320:Cyp20a1	UTSW	1	60,391,331 (GRCm39)	critical splice donor site	probably null
R7471:Cyp20a1	UTSW	1	60,393,799 (GRCm39)	missense	probably damaging	0.99
R7681:Cyp20a1	UTSW	1	60,392,192 (GRCm39)	missense	probably benign	0.01
R7715:Cyp20a1	UTSW	1	60,411,764 (GRCm39)	missense	probably benign	0.00
R8033:Cyp20a1	UTSW	1	60,411,750 (GRCm39)	missense	probably benign	0.02
R8259:Cyp20a1	UTSW	1	60,391,330 (GRCm39)	critical splice donor site	probably null
R8430:Cyp20a1	UTSW	1	60,402,488 (GRCm39)	missense	possibly damaging	0.90
R8676:Cyp20a1	UTSW	1	60,418,579 (GRCm39)	missense	possibly damaging	0.95
R8748:Cyp20a1	UTSW	1	60,392,181 (GRCm39)	missense	probably damaging	0.98
R8885:Cyp20a1	UTSW	1	60,411,765 (GRCm39)	missense	possibly damaging	0.48
R9171:Cyp20a1	UTSW	1	60,415,343 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp20a1	UTSW	1	60,392,169 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTTACTCCCTGAATTGCATATGC -3'
(R):5'- CAAGGCTCACATACACTCTGAG -3'

Sequencing Primer
(F):5'- TGGCTCACACTGGCACAAATTTG -3'
(R):5'- TCTGAGCACACCACCTGG -3'

Posted On

2021-08-31