Incidental Mutation 'IGL02347:Rnaseh1'
ID 289350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnaseh1
Ensembl Gene ENSMUSG00000020630
Gene Name ribonuclease H1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02347
Quality Score
Status
Chromosome 12
Chromosomal Location 28699601-28709588 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 28707629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020959] [ENSMUST00000223322]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020959
SMART Domains Protein: ENSMUSP00000020959
Gene: ENSMUSG00000020630

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000223322
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging Het
Other mutations in Rnaseh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Rnaseh1 APN 12 28,709,008 (GRCm39) missense probably damaging 1.00
IGL02243:Rnaseh1 APN 12 28,705,631 (GRCm39) missense probably damaging 1.00
IGL02478:Rnaseh1 APN 12 28,705,662 (GRCm39) missense probably damaging 1.00
R1928:Rnaseh1 UTSW 12 28,703,088 (GRCm39) missense probably benign 0.00
R6723:Rnaseh1 UTSW 12 28,699,761 (GRCm39) missense probably damaging 1.00
R9035:Rnaseh1 UTSW 12 28,708,290 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16