Incidental Mutation 'IGL02471:Rchy1'
ID 294742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rchy1
Ensembl Gene ENSMUSG00000029397
Gene Name ring finger and CHY zinc finger domain containing 1
Synonyms 6720407C15Rik, PRO1996, Pirh2, Zfp363
Accession Numbers
Essential gene? Possibly essential (E-score: 0.629) question?
Stock # IGL02471
Quality Score
Status
Chromosome 5
Chromosomal Location 92096763-92110927 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92105405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 65 (C65*)
Ref Sequence ENSEMBL: ENSMUSP00000131270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031345] [ENSMUST00000169948]
AlphaFold Q9CR50
Predicted Effect probably null
Transcript: ENSMUST00000031345
AA Change: C105*
SMART Domains Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: C105*

DomainStartEndE-ValueType
Pfam:zf-CHY 20 93 2.2e-24 PFAM
low complexity region 119 130 N/A INTRINSIC
RING 145 186 1.38e-7 SMART
Pfam:zinc_ribbon_6 191 249 6.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140670
Predicted Effect probably null
Transcript: ENSMUST00000169948
AA Change: C65*
SMART Domains Protein: ENSMUSP00000131270
Gene: ENSMUSG00000029397
AA Change: C65*

DomainStartEndE-ValueType
PDB:2DKT|A 10 99 2e-41 PDB
RING 105 146 1.38e-7 SMART
Pfam:zinc_ribbon_6 150 210 3.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202883
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein containing CHY-, CTCHY-, and RING-type zinc-fingers. The encoded protein functions as an E3 ubiquitin ligase, and mediates the degradation of target proteins such as p53. The activity of this protein is important in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a knock-out allele exhibit decreased cellular sensitivity to UV irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Rchy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02668:Rchy1 APN 5 92,110,577 (GRCm39) start codon destroyed probably null 0.43
IGL03251:Rchy1 APN 5 92,110,502 (GRCm39) missense probably benign 0.08
R0137:Rchy1 UTSW 5 92,105,458 (GRCm39) missense probably benign 0.01
R0959:Rchy1 UTSW 5 92,105,476 (GRCm39) missense probably damaging 0.99
R1462:Rchy1 UTSW 5 92,105,741 (GRCm39) missense probably damaging 1.00
R1462:Rchy1 UTSW 5 92,105,741 (GRCm39) missense probably damaging 1.00
R1531:Rchy1 UTSW 5 92,103,474 (GRCm39) critical splice acceptor site probably null
R1868:Rchy1 UTSW 5 92,099,762 (GRCm39) missense probably damaging 0.99
R4350:Rchy1 UTSW 5 92,105,813 (GRCm39) missense probably damaging 1.00
R4953:Rchy1 UTSW 5 92,110,487 (GRCm39) critical splice donor site probably null
R6223:Rchy1 UTSW 5 92,105,826 (GRCm39) missense probably damaging 1.00
R6345:Rchy1 UTSW 5 92,105,801 (GRCm39) missense probably benign 0.08
R6546:Rchy1 UTSW 5 92,105,817 (GRCm39) missense probably damaging 1.00
R8311:Rchy1 UTSW 5 92,099,762 (GRCm39) missense probably damaging 0.99
R8711:Rchy1 UTSW 5 92,105,397 (GRCm39) missense probably damaging 1.00
R9225:Rchy1 UTSW 5 92,105,396 (GRCm39) nonsense probably null
R9267:Rchy1 UTSW 5 92,105,831 (GRCm39) missense probably benign 0.04
R9269:Rchy1 UTSW 5 92,105,831 (GRCm39) missense probably benign 0.04
R9291:Rchy1 UTSW 5 92,099,765 (GRCm39) missense possibly damaging 0.49
Posted On 2015-04-16