Mutagenetix > Incidental Mutation

Incidental Mutation 'R9171:Cyp20a1'

696382

Institutional Source

Beutler Lab

Gene Symbol

Cyp20a1

Ensembl Gene

ENSMUSG00000049439

Gene Name

cytochrome P450, family 20, subfamily a, polypeptide 1

Synonyms

A930011N14Rik

MMRRC Submission

068976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60382482-60427219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60415343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 323 (L323R)

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: L323R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050823
Gene: ENSMUSG00000049439
AA Change: L323R

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: 99.0%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	A	15: 41,732,512 (GRCm39)	T185S	possibly damaging	Het
Acad10	T	A	5: 121,767,981 (GRCm39)	H823L	probably benign	Het
Acly	A	G	11: 100,407,657 (GRCm39)	V231A	probably benign	Het
Adamts9	T	C	6: 92,849,381 (GRCm39)	N1026S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd65	A	G	4: 155,875,800 (GRCm39)	E7G	probably benign	Het
Ap1g2	T	C	14: 55,336,581 (GRCm39)	H771R	probably benign	Het
Atp9a	A	G	2: 168,485,780 (GRCm39)		probably null	Het
Atxn10	T	G	15: 85,277,557 (GRCm39)	H341Q	probably damaging	Het
Cacng1	A	G	11: 107,607,060 (GRCm39)	L53P	probably damaging	Het
Cdh23	T	C	10: 60,161,810 (GRCm39)	N2014S	probably benign	Het
Cma1	T	C	14: 56,181,189 (GRCm39)	N72S	probably benign	Het
Col7a1	G	A	9: 108,807,953 (GRCm39)	G2551D	unknown	Het
Dnah11	A	T	12: 117,894,918 (GRCm39)	V3643E	probably damaging	Het
Dnmt3l	A	C	10: 77,895,518 (GRCm39)	D352A	probably benign	Het
Dock2	A	T	11: 34,589,670 (GRCm39)	N462K	probably benign	Het
Drc1	A	G	5: 30,513,794 (GRCm39)	Q450R	probably benign	Het
Drgx	C	T	14: 32,330,339 (GRCm39)	S152F	probably damaging	Het
Efcab3	A	G	11: 104,800,708 (GRCm39)	T2977A	probably benign	Het
Eid3	C	T	10: 82,703,316 (GRCm39)	T259M	probably damaging	Het
Eif2ak3	T	G	6: 70,835,419 (GRCm39)	D115E	probably damaging	Het
Ezh2	A	C	6: 47,531,134 (GRCm39)	D183E	probably benign	Het
Fam114a1	A	C	5: 65,191,713 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,891,607 (GRCm39)	T385I	probably benign	Het
Gm6882	C	A	7: 21,161,254 (GRCm39)	E205*	probably null	Het
Hexim2	G	A	11: 103,029,822 (GRCm39)	W291*	probably null	Het
Hnrnpab	A	C	11: 51,492,710 (GRCm39)	S265R	unknown	Het
Hsd17b1	A	G	11: 100,969,832 (GRCm39)	N115D	probably damaging	Het
Ighmbp2	T	C	19: 3,315,641 (GRCm39)	D593G	possibly damaging	Het
Inf2	C	A	12: 112,567,965 (GRCm39)	C172*	probably null	Het
Invs	A	T	4: 48,398,149 (GRCm39)	N445I	possibly damaging	Het
Izumo2	A	G	7: 44,369,184 (GRCm39)	Q186R	probably benign	Het
Kcnj15	T	C	16: 95,097,481 (GRCm39)	F368L	probably benign	Het
Kctd20	A	G	17: 29,185,866 (GRCm39)	D403G	probably damaging	Het
Kmt2c	A	C	5: 25,486,309 (GRCm39)	V4748G	probably damaging	Het
Lrrc37a	A	G	11: 103,393,140 (GRCm39)	S762P	probably benign	Het
Man2c1	C	T	9: 57,044,317 (GRCm39)	Q324*	probably null	Het
Mgam	A	G	6: 40,745,146 (GRCm39)	I1804M	possibly damaging	Het
Mmp28	A	G	11: 83,335,661 (GRCm39)	V279A	probably benign	Het
Mrpl22	T	C	11: 58,070,185 (GRCm39)	V164A	possibly damaging	Het
Obscn	A	T	11: 58,952,329 (GRCm39)	H3913Q	possibly damaging	Het
Or6e1	T	C	14: 54,520,329 (GRCm39)	T8A	probably benign	Het
Or8g50	C	T	9: 39,648,516 (GRCm39)	T135I	probably benign	Het
Paqr6	A	G	3: 88,273,066 (GRCm39)	T46A	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,178,550 (GRCm39)	D1789G	probably benign	Het
Pou4f2	T	C	8: 79,162,748 (GRCm39)	T96A	probably benign	Het
Ppp1r12b	A	T	1: 134,801,725 (GRCm39)	V497E	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Rsph4a	C	T	10: 33,785,438 (GRCm39)	Q450*	probably null	Het
Sh3d19	C	T	3: 85,990,918 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,687 (GRCm39)	T259A	probably benign	Het
Snap91	T	C	9: 86,680,672 (GRCm39)	T404A	probably benign	Het
Sptbn4	A	T	7: 27,141,844 (GRCm39)	C50S	possibly damaging	Het
Stx8	A	C	11: 67,875,471 (GRCm39)	N99H	possibly damaging	Het
Tgfbi	A	T	13: 56,773,526 (GRCm39)	M175L	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tle1	A	T	4: 72,043,232 (GRCm39)	C536S	possibly damaging	Het
Tprn	A	G	2: 25,152,799 (GRCm39)	S34G	probably benign	Het
Vmn1r80	A	T	7: 11,927,124 (GRCm39)	D78V	possibly 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
R8935:Cyp20a1	UTSW	1	60,410,473 (GRCm39)	missense	probably damaging	0.97
Z1177:Cyp20a1	UTSW	1	60,392,169 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACATTTATGTACCATGGCGTG -3'
(R):5'- ACTTGCTGCTTAGTCATGCTG -3'

Sequencing Primer
(F):5'- CCATGGCGTGGCAAGGC -3'
(R):5'- GACATGTACCACTATGCCTGG -3'

Posted On

2022-02-07