Incidental Mutation 'IGL02359:Cyp21a1'
ID 290412
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02359
Quality Score
Status
Chromosome 17
Chromosomal Location 35020322-35023400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35023196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
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 damaging
Transcript: ENSMUST00000025223
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365
AA Change: Y60H

DomainStartEndE-ValueType
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: ENSMUST00000173970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173394
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cep55 T A 19: 38,058,316 (GRCm39) I303N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Cyp21a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6374:Cyp21a1 UTSW 17 35,023,110 (GRCm39) splice site probably null
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
Posted On 2015-04-16