Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Cyp20a1'

32282

Institutional Source

Beutler Lab

Gene Symbol

Cyp20a1

Ensembl Gene

ENSMUSG00000049439

Gene Name

cytochrome P450, family 20, subfamily a, polypeptide 1

Synonyms

A930011N14Rik

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60382482-60427219 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 60426285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137471 (fasta)

Gene Model

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

AlphaFold

Q8BKE6

Predicted Effect

probably benign
Transcript: ENSMUST00000060608

SMART Domains

Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,019,616 (GRCm39)	C439S	probably damaging	Het
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,591,038 (GRCm39)	D1247E	probably benign	Het
Alms1	T	A	6: 85,606,192 (GRCm39)	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,512,292 (GRCm39)	H310R	probably damaging	Het
Ambra1	C	T	2: 91,741,773 (GRCm39)	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,591,331 (GRCm39)	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145 (GRCm39)		probably benign	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Atp1a3	T	C	7: 24,688,989 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bicra	G	T	7: 15,705,812 (GRCm39)	T1543K	probably benign	Het
Bltp2	T	A	11: 78,177,404 (GRCm39)	V1903E	possibly damaging	Het
Bzw2	A	C	12: 36,180,014 (GRCm39)	I71S	probably damaging	Het
Camk2a	C	T	18: 61,093,079 (GRCm39)	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,485,665 (GRCm39)	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,819,164 (GRCm39)	F19Y	probably benign	Het
Clcn3	A	T	8: 61,380,330 (GRCm39)	C535*	probably null	Het
Cntnap5c	A	G	17: 58,506,012 (GRCm39)	T679A	probably benign	Het
Cpsf7	G	A	19: 10,516,993 (GRCm39)	S365N	possibly damaging	Het
Cspg4b	T	A	13: 113,505,310 (GRCm39)	S2146R	probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dnah12	T	C	14: 26,494,601 (GRCm39)	F1300L	probably damaging	Het
Dock1	T	C	7: 134,331,793 (GRCm39)		probably benign	Het
Dpy19l4	A	T	4: 11,267,619 (GRCm39)	N440K	probably damaging	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,831,681 (GRCm39)		probably null	Het
Fam184b	A	G	5: 45,712,536 (GRCm39)		probably benign	Het
Fcho1	A	T	8: 72,161,597 (GRCm39)	S858T	probably damaging	Het
Fgfr1	A	G	8: 26,058,214 (GRCm39)	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Gabra5	T	C	7: 57,063,476 (GRCm39)	Y316C	probably damaging	Het
Gh	A	G	11: 106,192,346 (GRCm39)	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532 (GRCm39)	I87F	probably damaging	Het
Glrb	T	A	3: 80,763,221 (GRCm39)	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651 (GRCm39)	L125P	probably damaging	Het
Grb2	A	G	11: 115,546,251 (GRCm39)	Y37H	probably damaging	Het
Haus2	G	A	2: 120,449,449 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,788,653 (GRCm39)	N749S	probably damaging	Het
Igf1r	T	C	7: 67,814,990 (GRCm39)	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,293,270 (GRCm39)	P69H	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Izumo2	C	T	7: 44,364,833 (GRCm39)	T116I	probably benign	Het
Kctd19	A	C	8: 106,121,993 (GRCm39)	Y185D	probably damaging	Het
Lama4	A	G	10: 38,936,218 (GRCm39)	N631S	possibly damaging	Het
Lama5	T	G	2: 179,819,872 (GRCm39)		probably null	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Lgr4	G	A	2: 109,828,010 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mapk9	T	A	11: 49,757,866 (GRCm39)	D103E	possibly damaging	Het
Marchf6	T	C	15: 31,469,678 (GRCm39)		probably benign	Het
Mlxipl	G	A	5: 135,162,043 (GRCm39)		probably benign	Het
Mrgbp	C	A	2: 180,225,231 (GRCm39)	D62E	probably benign	Het
Mtap	A	T	4: 89,070,235 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Naa25	T	G	5: 121,545,247 (GRCm39)		probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,253,852 (GRCm39)	C73R	probably benign	Het
Nup210l	T	C	3: 90,027,218 (GRCm39)	I200T	probably damaging	Het
Nvl	C	A	1: 180,941,698 (GRCm39)	D581Y	probably damaging	Het
Or51a6	T	C	7: 102,604,185 (GRCm39)	M208V	probably benign	Het
Or51f2	T	C	7: 102,527,068 (GRCm39)	V247A	probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or8b1c	A	G	9: 38,384,612 (GRCm39)	T190A	probably benign	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,740,836 (GRCm39)		probably null	Het
Plekhh2	A	T	17: 84,864,820 (GRCm39)	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Rrad	A	C	8: 105,355,299 (GRCm39)	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,246,533 (GRCm39)	A236T	probably benign	Het
Ryr2	C	A	13: 11,839,265 (GRCm39)	D503Y	probably damaging	Het
Siglec1	T	C	2: 130,916,980 (GRCm39)	T1092A	probably benign	Het
Siglecf	A	G	7: 43,005,350 (GRCm39)	T437A	probably benign	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,999,299 (GRCm39)	S358T	possibly damaging	Het
Trim25	G	T	11: 88,906,598 (GRCm39)	V437L	probably benign	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,536,912 (GRCm39)	S303R	probably benign	Het
Ush2a	T	A	1: 188,310,688 (GRCm39)	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 20,032,241 (GRCm39)	T672A	probably damaging	Het
Wdr11	G	T	7: 129,200,785 (GRCm39)	G79C	probably damaging	Het
Wdr89	T	A	12: 75,679,367 (GRCm39)	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,930,402 (GRCm39)	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,622,217 (GRCm39)	C381R	probably damaging	Het
Zim1	A	G	7: 6,679,947 (GRCm39)	I572T	probably benign	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
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
R8935:Cyp20a1	UTSW	1	60,410,473 (GRCm39)	missense	probably damaging	0.97
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'- TCTCTTGGCTTCTCAGGCACATGG -3'
(R):5'- TCAGCACATACTCTAACTGGGCATTTC -3'

Sequencing Primer
(F):5'- CTTCTCAGGCACATGGGAATG -3'
(R):5'- CCTAACAGACTTTAAGTGCATAAACG -3'

Posted On

2013-05-09