Incidental Mutation 'R7975:Oas1h'
ID 650840
Institutional Source Beutler Lab
Gene Symbol Oas1h
Ensembl Gene ENSMUSG00000001168
Gene Name 2'-5' oligoadenylate synthetase 1H
Synonyms
MMRRC Submission 046018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7975 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120999485-121011569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121009890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 322 (V322M)
Ref Sequence ENSEMBL: ENSMUSP00000072297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072476] [ENSMUST00000086368] [ENSMUST00000162096] [ENSMUST00000171820]
AlphaFold Q8VI97
Predicted Effect probably damaging
Transcript: ENSMUST00000072476
AA Change: V322M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: V322M

DomainStartEndE-ValueType
Pfam:NTP_transf_2 45 146 1.6e-9 PFAM
Pfam:OAS1_C 175 361 2.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086368
SMART Domains Protein: ENSMUSP00000083555
Gene: ENSMUSG00000066861

DomainStartEndE-ValueType
Pfam:NTP_transf_2 38 139 1.6e-13 PFAM
Pfam:OAS1_C 164 349 6.9e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162096
SMART Domains Protein: ENSMUSP00000124597
Gene: ENSMUSG00000066861

DomainStartEndE-ValueType
Pfam:NTP_transf_2 42 138 1.1e-9 PFAM
Pfam:OAS1_C 163 231 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171820
SMART Domains Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168

DomainStartEndE-ValueType
Pfam:NTP_transf_2 46 157 1.6e-7 PFAM
Pfam:OAS1_C 174 236 1e-22 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T C 10: 88,952,847 (GRCm39) I60V possibly damaging Het
Ano5 T A 7: 51,216,286 (GRCm39) M381K probably null Het
Aox1 T A 1: 58,348,187 (GRCm39) I635K probably benign Het
Bdp1 C T 13: 100,156,884 (GRCm39) C2436Y probably benign Het
Bod1l T C 5: 41,973,620 (GRCm39) R2565G possibly damaging Het
Brd2 A T 17: 34,334,424 (GRCm39) I245N probably damaging Het
Capn9 G A 8: 125,325,515 (GRCm39) V258M probably damaging Het
Ccar2 C G 14: 70,380,918 (GRCm39) C324S possibly damaging Het
Cd209b A T 8: 3,975,948 (GRCm39) I71N probably benign Het
Cdk12 A T 11: 98,111,928 (GRCm39) I729F unknown Het
Celf1 T G 2: 90,831,423 (GRCm39) V84G probably damaging Het
Cgn G T 3: 94,671,836 (GRCm39) A965E probably benign Het
Cgnl1 T C 9: 71,632,604 (GRCm39) E249G probably benign Het
Cspg4b A G 13: 113,455,841 (GRCm39) H629R Het
Cyp2j8 T C 4: 96,358,776 (GRCm39) N381S possibly damaging Het
Dmtf1 T C 5: 9,179,169 (GRCm39) D343G probably damaging Het
Fhl5 T A 4: 25,214,730 (GRCm39) I16F probably benign Het
Gatd1 A G 7: 140,989,781 (GRCm39) F143S probably damaging Het
Gbp10 C T 5: 105,368,967 (GRCm39) G291R probably benign Het
Gm28168 T C 1: 117,875,820 (GRCm39) Y150H probably benign Het
Gm3543 T C 14: 41,802,122 (GRCm39) M121V probably benign Het
Gramd2b A G 18: 56,618,451 (GRCm39) T220A probably benign Het
Gstcd A G 3: 132,777,863 (GRCm39) L316P probably damaging Het
Hspg2 G A 4: 137,282,532 (GRCm39) G3424D probably benign Het
Ifi209 C T 1: 173,468,722 (GRCm39) S184F probably benign Het
Ino80 A T 2: 119,286,948 (GRCm39) probably null Het
Kcnd3 G A 3: 105,366,310 (GRCm39) R60H probably damaging Het
Kif21b T C 1: 136,098,911 (GRCm39) C1400R probably damaging Het
Lama3 C T 18: 12,670,796 (GRCm39) P794L probably damaging Het
Lgals4 A G 7: 28,540,346 (GRCm39) I214V probably benign Het
Lipo4 A T 19: 33,490,028 (GRCm39) L158Q probably damaging Het
Ltv1 A G 10: 13,066,453 (GRCm39) Y58H probably damaging Het
Mitf T C 6: 97,994,990 (GRCm39) S479P probably benign Het
Mthfr A T 4: 148,127,920 (GRCm39) D132V probably damaging Het
Mtrr T C 13: 68,727,666 (GRCm39) probably null Het
Neb T A 2: 52,050,678 (GRCm39) H6660L probably benign Het
Nhlrc3 A T 3: 53,360,966 (GRCm39) V263E probably damaging Het
Or10a3n A T 7: 108,493,019 (GRCm39) Y203* probably null Het
Or2m13 T A 16: 19,226,301 (GRCm39) D155V probably damaging Het
Or4a15 C T 2: 89,193,413 (GRCm39) R120H probably benign Het
Pappa A T 4: 65,212,705 (GRCm39) D1121V probably damaging Het
Pax5 A G 4: 44,537,465 (GRCm39) S352P probably damaging Het
Piezo1 C A 8: 123,222,504 (GRCm39) R915L Het
R3hcc1 T C 14: 69,944,593 (GRCm39) D7G probably damaging Het
Rasgrp2 A G 19: 6,458,589 (GRCm39) K429E probably damaging Het
Scn10a A G 9: 119,501,286 (GRCm39) F166S probably benign Het
Scn9a T G 2: 66,314,597 (GRCm39) N1707T probably damaging Het
Sec23ip T C 7: 128,364,201 (GRCm39) F493S probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slfn4 A T 11: 83,077,982 (GRCm39) I257F possibly damaging Het
Smarcal1 T A 1: 72,652,150 (GRCm39) D637E probably benign Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Sos2 A T 12: 69,639,814 (GRCm39) F990L probably benign Het
Spata31h1 C T 10: 82,119,823 (GRCm39) A4396T possibly damaging Het
Syne1 T C 10: 4,981,786 (GRCm39) T844A probably benign Het
Tph1 G A 7: 46,306,678 (GRCm39) R145C probably damaging Het
Ubap2l G A 3: 89,946,076 (GRCm39) probably null Het
Vmn2r50 T C 7: 9,771,272 (GRCm39) I810V probably benign Het
Vmn2r59 T C 7: 41,693,199 (GRCm39) D467G probably damaging Het
Zfp618 T A 4: 63,049,352 (GRCm39) N417K possibly damaging Het
Other mutations in Oas1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Oas1h APN 5 121,009,897 (GRCm39) missense probably damaging 1.00
IGL01890:Oas1h APN 5 121,000,852 (GRCm39) splice site probably null
IGL02745:Oas1h APN 5 120,999,542 (GRCm39) missense probably benign 0.04
IGL02888:Oas1h APN 5 120,999,610 (GRCm39) missense probably benign 0.34
IGL02970:Oas1h APN 5 120,999,698 (GRCm39) missense possibly damaging 0.91
R0125:Oas1h UTSW 5 121,000,626 (GRCm39) nonsense probably null
R1261:Oas1h UTSW 5 121,009,930 (GRCm39) missense probably benign 0.01
R1506:Oas1h UTSW 5 121,009,951 (GRCm39) missense possibly damaging 0.66
R1565:Oas1h UTSW 5 121,000,663 (GRCm39) missense probably damaging 0.97
R1696:Oas1h UTSW 5 121,000,885 (GRCm39) critical splice donor site probably null
R1750:Oas1h UTSW 5 121,009,840 (GRCm39) splice site probably null
R3116:Oas1h UTSW 5 120,999,679 (GRCm39) nonsense probably null
R4814:Oas1h UTSW 5 121,000,728 (GRCm39) missense probably damaging 0.99
R4906:Oas1h UTSW 5 121,005,172 (GRCm39) nonsense probably null
R4944:Oas1h UTSW 5 121,000,846 (GRCm39) missense probably damaging 1.00
R4961:Oas1h UTSW 5 121,009,159 (GRCm39) missense probably damaging 1.00
R5160:Oas1h UTSW 5 121,009,145 (GRCm39) missense probably damaging 1.00
R5698:Oas1h UTSW 5 121,009,045 (GRCm39) missense probably damaging 1.00
R5903:Oas1h UTSW 5 121,009,040 (GRCm39) missense probably damaging 1.00
R6014:Oas1h UTSW 5 121,005,229 (GRCm39) missense possibly damaging 0.68
R7062:Oas1h UTSW 5 120,999,528 (GRCm39) unclassified probably benign
R7966:Oas1h UTSW 5 121,009,962 (GRCm39) missense probably damaging 0.97
R8777:Oas1h UTSW 5 121,005,107 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Oas1h UTSW 5 121,005,107 (GRCm39) missense probably damaging 1.00
R8951:Oas1h UTSW 5 121,000,657 (GRCm39) missense probably damaging 1.00
R8987:Oas1h UTSW 5 121,005,152 (GRCm39) missense probably damaging 1.00
R9748:Oas1h UTSW 5 121,005,088 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGATCCCTCTAGTCTTGCTG -3'
(R):5'- TTGCCTTCACAGAAGTGTAAAGAC -3'

Sequencing Primer
(F):5'- GGATCCCTCTAGTCTTGCTGTATGC -3'
(R):5'- CCTTAGCAAAAGATCAAGTCTCGGTG -3'
Posted On 2020-09-15