Incidental Mutation 'R6723:Rnaseh1'
ID 529707
Institutional Source Beutler Lab
Gene Symbol Rnaseh1
Ensembl Gene ENSMUSG00000020630
Gene Name ribonuclease H1
Synonyms
MMRRC Submission 044841-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 28699601-28709588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28699761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 25 (L25P)
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: L25P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020959
Gene: ENSMUSG00000020630
AA Change: L25P

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: L25P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,228 (GRCm39) S740P probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Bcl11a C A 11: 24,113,646 (GRCm39) P330T probably damaging Het
Cyp2d12 A T 15: 82,441,085 (GRCm39) I124F probably benign Het
Dhdds T C 4: 133,721,576 (GRCm39) T74A probably damaging Het
Dio3 G A 12: 110,245,991 (GRCm39) C109Y possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Efcab3 A T 11: 105,007,906 (GRCm39) T329S possibly damaging Het
Esp1 A T 17: 41,039,747 (GRCm39) I11L probably benign Het
Fam13b A T 18: 34,631,079 (GRCm39) H33Q possibly damaging Het
Fam13c G A 10: 70,390,355 (GRCm39) D539N probably damaging Het
Fgd5 A G 6: 91,965,011 (GRCm39) T257A probably benign Het
Gm5134 A G 10: 75,844,453 (GRCm39) D603G probably benign Het
Gtpbp2 T C 17: 46,479,202 (GRCm39) V588A probably benign Het
Ift140 A G 17: 25,252,090 (GRCm39) I312M probably benign Het
Inpp5j T C 11: 3,450,640 (GRCm39) N571S probably damaging Het
Iqgap1 T G 7: 80,373,570 (GRCm39) D1473A probably benign Het
Ivl T G 3: 92,478,694 (GRCm39) K457T unknown Het
Kdm3b T C 18: 34,926,058 (GRCm39) I66T probably damaging Het
Kif21a A T 15: 90,824,649 (GRCm39) M1430K probably damaging Het
Klhl25 T A 7: 75,515,739 (GRCm39) L215Q possibly damaging Het
Lim2 T A 7: 43,085,099 (GRCm39) M163K probably benign Het
Lrig1 T C 6: 94,603,386 (GRCm39) D254G probably damaging Het
Mff A G 1: 82,729,387 (GRCm39) I122V possibly damaging Het
Mrpl15 A C 1: 4,852,789 (GRCm39) probably null Het
Mylk A G 16: 34,750,258 (GRCm39) Y1199C possibly damaging Het
Nlrp3 G A 11: 59,456,018 (GRCm39) C938Y probably damaging Het
Notch1 T C 2: 26,368,118 (GRCm39) N623D probably damaging Het
Obscn T G 11: 58,945,824 (GRCm39) E4129A probably damaging Het
Or10a49 A T 7: 108,467,795 (GRCm39) C189S probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4d11 A G 19: 12,013,639 (GRCm39) S156P probably damaging Het
Or5k1 T C 16: 58,617,795 (GRCm39) K138R probably benign Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Parm1 C T 5: 91,770,856 (GRCm39) P291S probably damaging Het
Pcsk1 T A 13: 75,241,188 (GRCm39) probably null Het
Pgap6 C A 17: 26,339,610 (GRCm39) T616N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Piezo1 T G 8: 123,234,366 (GRCm39) Q93H probably benign Het
Pkd2l2 A T 18: 34,571,210 (GRCm39) Y575F probably damaging Het
Plekhn1 A C 4: 156,309,026 (GRCm39) F258C probably damaging Het
Pole C T 5: 110,471,482 (GRCm39) H1409Y probably benign Het
Rae1 T C 2: 172,854,041 (GRCm39) I273T probably damaging Het
Rag1 A G 2: 101,473,990 (GRCm39) V384A probably damaging Het
Serpinb12 A G 1: 106,876,888 (GRCm39) H68R probably benign Het
Sh3tc2 A T 18: 62,111,025 (GRCm39) I294F probably damaging Het
Sirpb1b A C 3: 15,613,858 (GRCm39) L75V possibly damaging Het
Slc12a6 A T 2: 112,168,287 (GRCm39) T277S probably damaging Het
Slc7a12 A T 3: 14,564,257 (GRCm39) E43D probably benign Het
Spata31d1c T A 13: 65,183,758 (GRCm39) D433E probably benign Het
Spata31h1 T C 10: 82,125,657 (GRCm39) Y2451C possibly damaging Het
Tbl2 A T 5: 135,188,130 (GRCm39) Y308F probably damaging Het
Tfec T C 6: 16,835,301 (GRCm39) Y159C probably damaging Het
Top1mt G T 15: 75,539,282 (GRCm39) T371K probably benign Het
Trim24 T C 6: 37,928,403 (GRCm39) V541A probably benign Het
Ttc16 T C 2: 32,658,049 (GRCm39) Y456C possibly damaging Het
Ttn G A 2: 76,600,441 (GRCm39) R17204* probably null Het
Ugt1a6b T C 1: 88,035,439 (GRCm39) V259A probably benign Het
Unc5a T C 13: 55,143,702 (GRCm39) W129R probably benign Het
Vmn1r63 T A 7: 5,805,948 (GRCm39) H228L probably damaging Het
Whamm G T 7: 81,245,868 (GRCm39) V775F probably damaging Het
Zfc3h1 T A 10: 115,256,638 (GRCm39) I1536N probably benign Het
Zfp1 T C 8: 112,396,971 (GRCm39) S317P probably damaging Het
Zfp58 T C 13: 67,642,192 (GRCm39) T52A 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
IGL02347:Rnaseh1 APN 12 28,707,629 (GRCm39) splice site probably benign
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
R9035:Rnaseh1 UTSW 12 28,708,290 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACACCTCTGTCTCCAGGC -3'
(R):5'- TAAATTCTGGCTGCGGTGAC -3'

Sequencing Primer
(F):5'- GTCTCCACCGACGTCTAAG -3'
(R):5'- CTGCGGTGACCATGTGTTCTC -3'
Posted On 2018-08-01