Incidental Mutation 'IGL02243:Rnaseh1'
ID 286053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnaseh1
Ensembl Gene ENSMUSG00000020630
Gene Name ribonuclease H1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02243
Quality Score
Chromosome 12
Chromosomal Location 28649602-28659589 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28655632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 152 (R152W)
Ref Sequence ENSEMBL: ENSMUSP00000152845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020959] [ENSMUST00000223322]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020959
AA Change: R152W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020959
Gene: ENSMUSG00000020630
AA Change: R152W

low complexity region 9 20 N/A INTRINSIC
Pfam:Cauli_VI 27 70 4.4e-23 PFAM
low complexity region 98 114 N/A INTRINSIC
Pfam:RNase_H 136 281 2.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222767
Predicted Effect probably damaging
Transcript: ENSMUST00000223322
AA Change: R152W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which encodes 7aa in mouse. An alternately spliced transcript variant has been found which is a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality due to growth arrest around E8.5. Mutant embryos have decreased mtDNA content and abnormal mitochondria. Massive apoptosis is observed at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,302,341 Y87C probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Brsk2 T C 7: 141,993,299 F493S probably damaging Het
Cd19 T C 7: 126,410,793 probably null Het
Chd2 T C 7: 73,497,708 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ddx19a T G 8: 110,976,456 I450L probably benign Het
Edn2 G A 4: 120,162,032 probably null Het
Elp2 G A 18: 24,622,606 R470Q probably benign Het
Fhdc1 T G 3: 84,474,640 M1L possibly damaging Het
Gba2 A T 4: 43,568,719 I619N probably benign Het
Glce A G 9: 62,070,140 F154S probably damaging Het
Gm3476 A T 14: 6,122,811 C195* probably null Het
Hsp90aa1 A G 12: 110,695,091 S164P probably damaging Het
Iqcg T C 16: 33,045,592 D127G probably damaging Het
Jag2 G A 12: 112,916,345 T381I possibly damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lhx2 T A 2: 38,353,519 probably benign Het
Lrrc2 A T 9: 110,970,057 N158I probably damaging Het
M1ap C T 6: 83,026,288 P389S probably damaging Het
Maats1 T C 16: 38,341,780 probably benign Het
Masp2 A T 4: 148,603,068 D104V probably benign Het
Met G A 6: 17,549,094 V982I probably damaging Het
Msh2 T A 17: 87,678,368 probably benign Het
Myh9 A G 15: 77,767,482 L1509P probably damaging Het
Mylk2 A G 2: 152,920,553 H554R probably damaging Het
Oxr1 T G 15: 41,535,701 probably benign Het
Pdp1 A T 4: 11,961,873 V146D probably benign Het
Pdzrn4 A T 15: 92,770,696 M910L probably benign Het
Prl2a1 T C 13: 27,807,417 probably benign Het
Rapgef6 C T 11: 54,676,400 P1136S probably damaging Het
Rasgef1c A T 11: 49,957,390 S69C possibly damaging Het
Sele T C 1: 164,052,968 V373A probably benign Het
Tmem67 G A 4: 12,070,584 S314L possibly damaging Het
Traf4 T C 11: 78,160,517 E271G probably benign Het
Trim39 T C 17: 36,260,384 D494G probably damaging Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Other mutations in Rnaseh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Rnaseh1 APN 12 28659009 missense probably damaging 1.00
IGL02347:Rnaseh1 APN 12 28657630 splice site probably benign
IGL02478:Rnaseh1 APN 12 28655663 missense probably damaging 1.00
R1928:Rnaseh1 UTSW 12 28653089 missense probably benign 0.00
R6723:Rnaseh1 UTSW 12 28649762 missense probably damaging 1.00
R9035:Rnaseh1 UTSW 12 28658291 missense probably benign 0.00
Posted On 2015-04-16