Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Cyp20a1'

661365

Institutional Source

Beutler Lab

Gene Symbol

Cyp20a1

Ensembl Gene

ENSMUSG00000049439

Gene Name

cytochrome P450, family 20, subfamily a, polypeptide 1

Synonyms

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60343323-60388060 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60379420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 340 (T340A)

Ref Sequence

ENSEMBL: ENSMUSP00000050823 (fasta)

Gene Model

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

AlphaFold

Q8BKE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060608
AA Change: T340A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439
AA Change: T340A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	Het

Other mutations in Cyp20a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Cyp20a1	APN	1	60371251	missense	possibly damaging	0.79
IGL02725:Cyp20a1	APN	1	60366706	missense	probably benign	0.08
IGL03394:Cyp20a1	APN	1	60366681	missense	probably damaging	0.99
R0003:Cyp20a1	UTSW	1	60387126	splice site	probably benign
R0098:Cyp20a1	UTSW	1	60387254	nonsense	probably null
R0098:Cyp20a1	UTSW	1	60387254	nonsense	probably null
R0217:Cyp20a1	UTSW	1	60343466	splice site	probably benign
R0491:Cyp20a1	UTSW	1	60371327	missense	possibly damaging	0.71
R1543:Cyp20a1	UTSW	1	60376194	splice site	probably benign
R4519:Cyp20a1	UTSW	1	60387147	missense	probably damaging	1.00
R4621:Cyp20a1	UTSW	1	60376099	missense	probably benign
R4930:Cyp20a1	UTSW	1	60366719	missense	probably damaging	0.98
R4980:Cyp20a1	UTSW	1	60363214	missense	probably damaging	1.00
R5088:Cyp20a1	UTSW	1	60363350	missense	probably damaging	0.99
R5356:Cyp20a1	UTSW	1	60379387	missense	probably benign	0.08
R5545:Cyp20a1	UTSW	1	60376082	missense	possibly damaging	0.71
R5897:Cyp20a1	UTSW	1	60353061	missense	probably damaging	1.00
R5926:Cyp20a1	UTSW	1	60363242	missense	possibly damaging	0.52
R6317:Cyp20a1	UTSW	1	60352124	missense	probably damaging	1.00
R6320:Cyp20a1	UTSW	1	60352172	critical splice donor site	probably null
R7471:Cyp20a1	UTSW	1	60354640	missense	probably damaging	0.99
R7681:Cyp20a1	UTSW	1	60353033	missense	probably benign	0.01
R7715:Cyp20a1	UTSW	1	60372605	missense	probably benign	0.00
R8033:Cyp20a1	UTSW	1	60372591	missense	probably benign	0.02
R8259:Cyp20a1	UTSW	1	60352171	critical splice donor site	probably null
R8430:Cyp20a1	UTSW	1	60363329	missense	possibly damaging	0.90
R8748:Cyp20a1	UTSW	1	60353022	missense	probably damaging	0.98
R8885:Cyp20a1	UTSW	1	60372606	missense	possibly damaging	0.48
R8935:Cyp20a1	UTSW	1	60371314	missense	probably damaging	0.97
R9171:Cyp20a1	UTSW	1	60376184	missense	probably damaging	1.00
Z1177:Cyp20a1	UTSW	1	60353010	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCGGTCTTAACCAAACATCCA -3'
(R):5'- GCTGAAGACAGTGCTGCACA -3'

Sequencing Primer
(F):5'- CCTGTCACTGAAGTTACAGACTGAG -3'
(R):5'- CCAGTGATGGCTGCTACACAATG -3'

Posted On

2021-03-08