Incidental Mutation 'IGL01773:Rnaseh2a'
ID153714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnaseh2a
Ensembl Gene ENSMUSG00000052926
Gene Nameribonuclease H2, large subunit
Synonyms2400006P09Rik
Accession Numbers

NCBI RefSeq: NM_027187.3; MGI: 1916974

Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL01773
Quality Score
Status
Chromosome8
Chromosomal Location84956610-84969767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84965138 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 136 (V136D)
Ref Sequence ENSEMBL: ENSMUSP00000066769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000065049] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000125893] [ENSMUST00000128972] [ENSMUST00000130902] [ENSMUST00000140561] [ENSMUST00000147812] [ENSMUST00000214133]
Predicted Effect probably benign
Transcript: ENSMUST00000005292
SMART Domains Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 157 3.9e-20 PFAM
Pfam:AhpC-TSA 8 141 5.6e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065049
AA Change: V136D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: V136D

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 7.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109733
SMART Domains Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 159 1.3e-21 PFAM
Pfam:AhpC-TSA 8 141 1.3e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109734
SMART Domains Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 159 1.3e-21 PFAM
Pfam:AhpC-TSA 8 141 1.3e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109736
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: V136D

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 1.3e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109738
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: V136D

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 5.5e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122931
Predicted Effect probably benign
Transcript: ENSMUST00000125893
SMART Domains Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 147 1.4e-21 PFAM
Pfam:AhpC-TSA 8 141 2.3e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128972
AA Change: V136D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: V136D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:RNase_HII 57 268 1.4e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138748
Predicted Effect probably benign
Transcript: ENSMUST00000140561
SMART Domains Protein: ENSMUSP00000118442
Gene: ENSMUSG00000052926

DomainStartEndE-ValueType
Pfam:RNase_HII 31 54 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143402
Predicted Effect possibly damaging
Transcript: ENSMUST00000147812
AA Change: V136D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: V136D

DomainStartEndE-ValueType
Pfam:RNase_HII 31 242 1.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214133
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
Allele List at MGI

All alleles(33) : Targeted(1) Gene trapped(32)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Rnaseh2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Rnaseh2a APN 8 84965123 unclassified probably benign
IGL02606:Rnaseh2a APN 8 84960094 missense probably damaging 1.00
P0016:Rnaseh2a UTSW 8 84959800 missense probably damaging 1.00
R1521:Rnaseh2a UTSW 8 84965858 critical splice donor site probably null
R2270:Rnaseh2a UTSW 8 84965419 missense probably benign 0.03
R4226:Rnaseh2a UTSW 8 84960073 missense possibly damaging 0.72
R4227:Rnaseh2a UTSW 8 84960073 missense possibly damaging 0.72
R4763:Rnaseh2a UTSW 8 84965392 missense probably benign 0.02
R5344:Rnaseh2a UTSW 8 84958106 unclassified probably benign
R8000:Rnaseh2a UTSW 8 84966049 unclassified probably benign
RF008:Rnaseh2a UTSW 8 84960058 nonsense probably null
Posted On2014-02-04