Incidental Mutation 'IGL02478:Rnaseh1'
ID 295025
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 # IGL02478
Quality Score
Status
Chromosome 12
Chromosomal Location 28699601-28709588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28705662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 162 (Y162F)
Ref Sequence ENSEMBL: ENSMUSP00000020959 (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: Y162F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020959
Gene: ENSMUSG00000020630
AA Change: Y162F

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 damaging
Transcript: ENSMUST00000223322
AA Change: Y162F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly 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
IGL02347:Rnaseh1 APN 12 28,707,629 (GRCm39) splice site probably benign
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