Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Cyp21a1'

513723

Institutional Source

Beutler Lab

Gene Symbol

Cyp21a1

Ensembl Gene

ENSMUSG00000024365

Gene Name

cytochrome P450, family 21, subfamily a, polypeptide 1

Synonyms

Cyp21, 21OHA, Oh21-1, 21-OH, 21-hydroxylase, 21OH, Oh21-1

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R6374 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

35020322-35023400 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 35023110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025223]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000015595

Predicted Effect

probably null
Transcript: ENSMUST00000025223

SMART Domains

Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:p450	29	473	3.9e-98	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173970

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	probably damaging	Het

Other mutations in Cyp21a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cyp21a1	APN	17	35,023,108 (GRCm39)	critical splice acceptor site	probably null
IGL01688:Cyp21a1	APN	17	35,021,194 (GRCm39)	missense	probably damaging	1.00
IGL02352:Cyp21a1	APN	17	35,023,196 (GRCm39)	missense	probably damaging	1.00
IGL02359:Cyp21a1	APN	17	35,023,196 (GRCm39)	missense	probably damaging	1.00
IGL02418:Cyp21a1	APN	17	35,023,162 (GRCm39)	splice site	probably benign
IGL03089:Cyp21a1	APN	17	35,022,420 (GRCm39)	splice site	probably null
R0480:Cyp21a1	UTSW	17	35,020,800 (GRCm39)	missense	probably damaging	1.00
R1386:Cyp21a1	UTSW	17	35,021,184 (GRCm39)	missense	probably damaging	0.98
R1831:Cyp21a1	UTSW	17	35,023,009 (GRCm39)	splice site	probably benign
R2159:Cyp21a1	UTSW	17	35,021,378 (GRCm39)	missense	probably benign	0.21
R2209:Cyp21a1	UTSW	17	35,021,701 (GRCm39)	nonsense	probably null
R4968:Cyp21a1	UTSW	17	35,022,383 (GRCm39)	missense	possibly damaging	0.93
R5957:Cyp21a1	UTSW	17	35,022,150 (GRCm39)	missense	probably benign	0.13
R7077:Cyp21a1	UTSW	17	35,021,333 (GRCm39)	missense	probably damaging	1.00
R7143:Cyp21a1	UTSW	17	35,021,300 (GRCm39)	missense	probably damaging	1.00
R7798:Cyp21a1	UTSW	17	35,023,295 (GRCm39)	missense	probably benign	0.30
R8192:Cyp21a1	UTSW	17	35,022,633 (GRCm39)	missense	probably damaging	1.00
R8359:Cyp21a1	UTSW	17	35,021,105 (GRCm39)	critical splice donor site	probably null
R8460:Cyp21a1	UTSW	17	35,021,844 (GRCm39)	missense	probably benign	0.01
R8933:Cyp21a1	UTSW	17	35,023,285 (GRCm39)	missense	probably damaging	1.00
R9133:Cyp21a1	UTSW	17	35,023,419 (GRCm39)	start gained	probably benign
R9408:Cyp21a1	UTSW	17	35,020,860 (GRCm39)	missense	probably damaging	1.00
R9561:Cyp21a1	UTSW	17	35,021,652 (GRCm39)	missense	possibly damaging	0.91
R9583:Cyp21a1	UTSW	17	35,022,017 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGCCACAATCTCACAG -3'
(R):5'- ATATCAGGGCCCTGCACAAG -3'

Sequencing Primer
(F):5'- TCACAGCACCATGTTTACGGG -3'
(R):5'- ACAAGTGCTGGGCCATG -3'

Posted On

2018-04-27