Incidental Mutation 'R6546:Rchy1'
ID 521182
Institutional Source Beutler Lab
Gene Symbol Rchy1
Ensembl Gene ENSMUSG00000029397
Gene Name ring finger and CHY zinc finger domain containing 1
Synonyms 6720407C15Rik, PRO1996, Pirh2, Zfp363
MMRRC Submission 045325-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R6546 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 92096763-92110927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92105817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 44 (H44Y)
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 damaging
Transcript: ENSMUST00000031345
AA Change: H44Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: H44Y

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 benign
Transcript: ENSMUST00000169948
SMART Domains Protein: ENSMUSP00000131270
Gene: ENSMUSG00000029397

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: ENSMUST00000192174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202883
Meta Mutation Damage Score 0.9460 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,776,234 (GRCm39) L242M probably damaging Het
Atad2b A T 12: 5,040,949 (GRCm39) H206L probably damaging Het
Bmp2k A G 5: 97,235,937 (GRCm39) Q1120R probably benign Het
Cdk18 G A 1: 132,050,088 (GRCm39) T29I probably damaging Het
Chrna3 T A 9: 54,923,185 (GRCm39) I208F probably damaging Het
Dhrs1 G A 14: 55,978,729 (GRCm39) P140S possibly damaging Het
Dnah14 C T 1: 181,566,552 (GRCm39) R2775C probably damaging Het
Fnip1 T G 11: 54,393,437 (GRCm39) N600K probably benign Het
Garin5b T C 7: 4,761,464 (GRCm39) D416G probably benign Het
Jmjd6 T C 11: 116,733,326 (GRCm39) Y117C probably damaging Het
Kbtbd4 T A 2: 90,739,635 (GRCm39) V340E probably damaging Het
Kif26b T C 1: 178,755,871 (GRCm39) V1995A probably damaging Het
Krt10 T C 11: 99,278,221 (GRCm39) probably null Het
Macf1 T C 4: 123,326,074 (GRCm39) D3022G probably benign Het
Map3k13 C T 16: 21,740,527 (GRCm39) T618I probably benign Het
Mat1a G A 14: 40,843,379 (GRCm39) V302M probably damaging Het
Med13l T C 5: 118,859,539 (GRCm39) F242S probably damaging Het
Npffr2 A T 5: 89,730,871 (GRCm39) K267M probably damaging Het
Nup58 A T 14: 60,460,672 (GRCm39) probably null Het
Papss2 A G 19: 32,640,548 (GRCm39) Y440C possibly damaging Het
Ppil4 T A 10: 7,674,186 (GRCm39) I110N probably damaging Het
Qrfpr G A 3: 36,234,414 (GRCm39) T309I probably damaging Het
Rbl2 C A 8: 91,796,998 (GRCm39) S65R probably benign Het
Slc19a3 T C 1: 83,004,081 (GRCm39) T7A probably benign Het
St7 C T 6: 17,852,313 (GRCm39) A233V probably damaging Het
Syn2 T A 6: 115,258,059 (GRCm39) S546T probably benign Het
Syne1 A T 10: 5,168,645 (GRCm39) Y5245* probably null Het
Trmt6 A G 2: 132,654,073 (GRCm39) W52R probably benign Het
Ubr4 G A 4: 139,141,705 (GRCm39) V1264M probably damaging Het
Ulk4 A T 9: 120,970,960 (GRCm39) V1004D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 T A 6: 124,169,369 (GRCm39) H587L possibly damaging Het
Vmn2r79 A G 7: 86,652,741 (GRCm39) R478G probably benign Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Other mutations in Rchy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Rchy1 APN 5 92,105,405 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CCTCCTCAGAGAATTAAGTCTCATTTC -3'
(R):5'- CTTCTGTTAGGCTGAGAACGAG -3'

Sequencing Primer
(F):5'- CCATACGGCCTTACATGT -3'
(R):5'- ATCTGTGAGCTGCTAGGA -3'
Posted On 2018-06-06