Incidental Mutation 'IGL02668:Rchy1'
ID 302826
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: 0.590) question?
Stock # IGL02668
Quality Score
Status
Chromosome 5
Chromosomal Location 92096763-92110927 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 92110577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000031345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031345] [ENSMUST00000169948]
AlphaFold Q9CR50
PDB Structure Solution structure of the CHY zinc finger domain of the RING finger and CHY zinc finger domain-containing protein 1 from Mus musculus [SOLUTION NMR]
Solution structure of the RING domain of the RING finger and CHY zinc finger domain-containing protein 1 from Mus musculus [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000031345
AA Change: M1K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: M1K

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: ENSMUST00000140670
Predicted Effect probably null
Transcript: ENSMUST00000169948
AA Change: M1K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131270
Gene: ENSMUSG00000029397
AA Change: M1K

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: ENSMUST00000191860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193925
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,532,074 (GRCm39) M167T probably benign Het
Abcc4 G T 14: 118,848,887 (GRCm39) S488R probably damaging Het
Adprm G T 11: 66,931,073 (GRCm39) D230E possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bltp3a A C 17: 28,105,549 (GRCm39) I692L possibly damaging Het
Ccdc66 T C 14: 27,219,298 (GRCm39) K309E possibly damaging Het
Cyb561d2 C T 9: 107,417,371 (GRCm39) A127T probably benign Het
Dctn1 T A 6: 83,168,030 (GRCm39) M357K possibly damaging Het
Diras2 T C 13: 52,661,806 (GRCm39) N167S probably benign Het
Dmgdh T G 13: 93,840,418 (GRCm39) V283G probably damaging Het
Dmxl2 A T 9: 54,324,229 (GRCm39) W1052R probably damaging Het
Dnah6 A T 6: 73,098,806 (GRCm39) V2083D possibly damaging Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Exoc4 T G 6: 33,898,467 (GRCm39) F895L probably benign Het
Fsip1 G T 2: 118,082,206 (GRCm39) A76E probably benign Het
Fsip2 A G 2: 82,828,662 (GRCm39) I6820V probably benign Het
Hdac10 G A 15: 89,009,847 (GRCm39) P395L probably benign Het
Ing3 A G 6: 21,950,058 (GRCm39) D17G probably damaging Het
Map3k4 A T 17: 12,454,840 (GRCm39) F1383L possibly damaging Het
Myct1 C A 10: 5,554,513 (GRCm39) P127T probably damaging Het
Or52s1 A T 7: 102,861,942 (GRCm39) I281F possibly damaging Het
Osbpl7 G T 11: 96,958,031 (GRCm39) A625S possibly damaging Het
Padi2 C T 4: 140,677,191 (GRCm39) R660C probably benign Het
Paip1 A T 13: 119,574,607 (GRCm39) I185F probably damaging Het
Pals2 C T 6: 50,171,509 (GRCm39) T386I probably damaging Het
Phykpl G A 11: 51,484,514 (GRCm39) probably null Het
Plekhg6 G A 6: 125,349,766 (GRCm39) probably benign Het
Plxna1 A T 6: 89,334,251 (GRCm39) L126* probably null Het
Rfx3 T C 19: 27,793,014 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,267 (GRCm39) F182L probably damaging Het
Sgpl1 A C 10: 60,941,229 (GRCm39) V294G probably damaging Het
Sh2b1 A G 7: 126,071,646 (GRCm39) S180P possibly damaging Het
Sorbs1 T C 19: 40,303,125 (GRCm39) D488G probably damaging Het
Stab2 A G 10: 86,682,027 (GRCm39) probably benign Het
Sycp1 A C 3: 102,727,847 (GRCm39) probably benign Het
Tmem245 T C 4: 56,925,081 (GRCm39) K347E possibly damaging Het
Tnk1 A G 11: 69,747,749 (GRCm39) M51T probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Ubd G T 17: 37,506,420 (GRCm39) R102L probably benign Het
Vmn2r103 G T 17: 20,014,389 (GRCm39) A394S probably benign Het
Zfp324 T A 7: 12,704,773 (GRCm39) C321S probably damaging Het
Zfp488 G T 14: 33,692,777 (GRCm39) Q129K probably benign Het
Zmpste24 T A 4: 120,918,297 (GRCm39) N442Y probably damaging Het
Other mutations in Rchy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Rchy1 APN 5 92,105,405 (GRCm39) nonsense probably null
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