Incidental Mutation 'IGL01308:Rnaseh2b'
ID 73556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnaseh2b
Ensembl Gene ENSMUSG00000021932
Gene Name ribonuclease H2, subunit B
Synonyms 2610207P08Rik, 1110019N06Rik, Dleu8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01308
Quality Score
Status
Chromosome 14
Chromosomal Location 62569517-62610445 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 62602706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022499] [ENSMUST00000169728]
AlphaFold Q80ZV0
PDB Structure mouse RNase H2 complex [X-RAY DIFFRACTION]
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000022499
SMART Domains Protein: ENSMUSP00000022499
Gene: ENSMUSG00000021932

DomainStartEndE-ValueType
Pfam:RNase_H2-Ydr279 14 298 6.8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169728
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality associated with reduced cell proliferation and embryonic growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,748,997 (GRCm39) D1256G probably damaging Het
Acot7 A T 4: 152,345,353 (GRCm39) M308L probably benign Het
Adarb2 A G 13: 8,253,329 (GRCm39) R25G possibly damaging Het
Ano1 C A 7: 144,149,235 (GRCm39) Q875H probably damaging Het
Ano6 G A 15: 95,811,542 (GRCm39) probably null Het
Defa40 C T 8: 21,740,434 (GRCm39) T80I probably damaging Het
Efcab3 A T 11: 104,611,523 (GRCm39) D455V probably benign Het
Ehbp1 G A 11: 22,088,022 (GRCm39) P354L probably damaging Het
Eml5 T C 12: 98,768,572 (GRCm39) H1454R probably damaging Het
Esyt1 T A 10: 128,355,660 (GRCm39) N421Y possibly damaging Het
Gen1 T C 12: 11,306,871 (GRCm39) T100A probably damaging Het
Jak3 A T 8: 72,137,810 (GRCm39) D780V probably damaging Het
Klrb1a A G 6: 128,595,008 (GRCm39) probably benign Het
Lrp8 A G 4: 107,721,273 (GRCm39) I826M probably benign Het
Mcmbp G A 7: 128,316,209 (GRCm39) Q214* probably null Het
Mtmr7 A T 8: 41,050,388 (GRCm39) Y136N probably damaging Het
Ndor1 A G 2: 25,140,151 (GRCm39) Y88H probably benign Het
Nkx2-4 A G 2: 146,926,260 (GRCm39) Y201H possibly damaging Het
Or3a1d A G 11: 74,237,486 (GRCm39) L308P probably damaging Het
Or52n4b T A 7: 108,143,933 (GRCm39) L65* probably null Het
Or6c5 A T 10: 129,074,476 (GRCm39) T153S probably benign Het
Pigg T C 5: 108,484,343 (GRCm39) L663P probably damaging Het
Pik3cd A G 4: 149,741,917 (GRCm39) V343A probably damaging Het
Plekha4 A G 7: 45,187,659 (GRCm39) S244G probably damaging Het
Prkce T A 17: 86,932,890 (GRCm39) D623E probably damaging Het
Rasgrf2 A G 13: 92,159,425 (GRCm39) probably benign Het
Rexo5 T C 7: 119,433,499 (GRCm39) W419R probably damaging Het
Rras A G 7: 44,670,709 (GRCm39) Y193C possibly damaging Het
Sall4 T C 2: 168,592,164 (GRCm39) I997V probably damaging Het
Sec31b A G 19: 44,512,122 (GRCm39) F591L probably benign Het
Skic2 A G 17: 35,059,610 (GRCm39) L232P probably benign Het
Slc13a3 A T 2: 165,248,700 (GRCm39) I526N probably damaging Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Snrnp25 A G 11: 32,158,745 (GRCm39) probably benign Het
Tex264 T C 9: 106,539,607 (GRCm39) K201E possibly damaging Het
Tgfb1 G T 7: 25,387,442 (GRCm39) R50L probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Tmed1 A T 9: 21,421,338 (GRCm39) C45* probably null Het
Tmem260 A G 14: 48,749,415 (GRCm39) N638S probably damaging Het
Traf3ip3 T C 1: 192,867,199 (GRCm39) E274G probably damaging Het
Trak1 T C 9: 121,272,802 (GRCm39) probably null Het
Trim3 A T 7: 105,266,676 (GRCm39) V502E probably damaging Het
Trmo C T 4: 46,377,053 (GRCm39) probably benign Het
Xab2 C T 8: 3,666,332 (GRCm39) R192Q probably benign Het
Other mutations in Rnaseh2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Rnaseh2b APN 14 62,584,064 (GRCm39) missense probably damaging 1.00
R1268:Rnaseh2b UTSW 14 62,609,904 (GRCm39) missense possibly damaging 0.83
R1698:Rnaseh2b UTSW 14 62,591,081 (GRCm39) missense probably benign 0.02
R2138:Rnaseh2b UTSW 14 62,598,794 (GRCm39) missense probably benign
R2304:Rnaseh2b UTSW 14 62,598,838 (GRCm39) missense probably damaging 1.00
R3896:Rnaseh2b UTSW 14 62,597,906 (GRCm39) splice site probably benign
R4717:Rnaseh2b UTSW 14 62,591,075 (GRCm39) missense probably damaging 1.00
R5160:Rnaseh2b UTSW 14 62,590,980 (GRCm39) nonsense probably null
R6360:Rnaseh2b UTSW 14 62,598,868 (GRCm39) missense probably damaging 0.98
R8029:Rnaseh2b UTSW 14 62,590,997 (GRCm39) missense possibly damaging 0.92
R8401:Rnaseh2b UTSW 14 62,607,938 (GRCm39) missense probably benign 0.10
R8870:Rnaseh2b UTSW 14 62,569,617 (GRCm39) missense probably damaging 1.00
R9433:Rnaseh2b UTSW 14 62,602,722 (GRCm39) missense probably benign 0.02
R9570:Rnaseh2b UTSW 14 62,597,978 (GRCm39) critical splice donor site probably null
Posted On 2013-10-07