Incidental Mutation 'R0602:Arih1'
ID 55492
Institutional Source Beutler Lab
Gene Symbol Arih1
Ensembl Gene ENSMUSG00000025234
Gene Name ariadne RBR E3 ubiquitin protein ligase 1
Synonyms UIP77
MMRRC Submission 038791-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R0602 (G1)
Quality Score 218
Status Validated
Chromosome 9
Chromosomal Location 59295541-59393901 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 59302154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026264] [ENSMUST00000165322] [ENSMUST00000171856] [ENSMUST00000171975]
AlphaFold Q9Z1K5
Predicted Effect probably benign
Transcript: ENSMUST00000026264
SMART Domains Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234

DomainStartEndE-ValueType
low complexity region 10 57 N/A INTRINSIC
low complexity region 60 90 N/A INTRINSIC
RING 184 232 1.34e-1 SMART
IBR 254 301 8.2e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165322
SMART Domains Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234

DomainStartEndE-ValueType
low complexity region 10 46 N/A INTRINSIC
RING 105 153 1.34e-1 SMART
IBR 175 236 1.16e-25 SMART
RING 195 266 2.01e0 SMART
IBR 244 308 2.75e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168456
Predicted Effect probably benign
Transcript: ENSMUST00000171856
Predicted Effect probably benign
Transcript: ENSMUST00000171975
SMART Domains Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234

DomainStartEndE-ValueType
low complexity region 10 57 N/A INTRINSIC
low complexity region 60 90 N/A INTRINSIC
RING 184 232 1.34e-1 SMART
IBR 254 315 1.16e-25 SMART
RING 274 345 2.01e0 SMART
IBR 323 387 2.75e-9 SMART
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.7%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,978,090 (GRCm39) probably benign Het
Bcl9 T C 3: 97,113,102 (GRCm39) I1118V probably benign Het
Cap1 T C 4: 122,766,202 (GRCm39) E12G probably damaging Het
Ccdc168 T A 1: 44,099,127 (GRCm39) K657I possibly damaging Het
Ccr2 A G 9: 123,906,658 (GRCm39) I313V probably benign Het
Cd1d2 T C 3: 86,895,110 (GRCm39) S161P probably benign Het
Cd226 C T 18: 89,287,135 (GRCm39) T311I probably benign Het
Col25a1 A G 3: 130,369,063 (GRCm39) probably null Het
Cspg4 T C 9: 56,795,301 (GRCm39) F1012S probably damaging Het
Dnah7b A G 1: 46,364,002 (GRCm39) M3541V probably damaging Het
Erbb2 G A 11: 98,325,097 (GRCm39) V852M probably damaging Het
Fer1l6 A C 15: 58,449,794 (GRCm39) T667P probably damaging Het
Gal3st2c A G 1: 93,936,901 (GRCm39) Y282C probably damaging Het
Glp1r T C 17: 31,128,201 (GRCm39) L60P probably benign Het
Gtf2h2 A G 13: 100,605,533 (GRCm39) V358A probably benign Het
H2ac18 T C 3: 96,152,866 (GRCm39) probably benign Het
Hephl1 T A 9: 15,000,347 (GRCm39) I302F probably damaging Het
Lgi2 T C 5: 52,711,765 (GRCm39) D185G probably damaging Het
Lrtm1 T C 14: 28,744,179 (GRCm39) probably benign Het
Megf10 T G 18: 57,395,172 (GRCm39) D511E probably damaging Het
Myo5c A G 9: 75,173,478 (GRCm39) probably null Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Ola1 A G 2: 72,924,056 (GRCm39) Y368H probably damaging Het
Or52s1 A C 7: 102,861,787 (GRCm39) H229P possibly damaging Het
Or9i1b A G 19: 13,897,145 (GRCm39) T254A probably benign Het
Or9q2 T C 19: 13,772,026 (GRCm39) probably null Het
Panx1 A G 9: 14,921,500 (GRCm39) L125P probably damaging Het
Pappa2 A G 1: 158,590,625 (GRCm39) probably benign Het
Parp6 A G 9: 59,556,648 (GRCm39) probably benign Het
Pomgnt2 A G 9: 121,811,339 (GRCm39) Y481H probably benign Het
Ppp4c A G 7: 126,388,254 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,533 (GRCm39) probably benign Het
Prpf40b C A 15: 99,202,352 (GRCm39) A70E unknown Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Ptprc C T 1: 138,017,223 (GRCm39) probably benign Het
Rgs22 T C 15: 36,140,018 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,371,313 (GRCm39) E344G possibly damaging Het
Sgca A T 11: 94,854,061 (GRCm39) I383N possibly damaging Het
Sgms2 T A 3: 131,118,756 (GRCm39) probably null Het
Slc9b1 C A 3: 135,103,516 (GRCm39) Q549K probably benign Het
Smc4 G C 3: 68,916,871 (GRCm39) A187P probably damaging Het
Smco1 A G 16: 32,092,062 (GRCm39) S47G probably damaging Het
Sobp T A 10: 42,898,385 (GRCm39) E400V probably damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Stil T A 4: 114,881,620 (GRCm39) probably benign Het
Sult3a2 A T 10: 33,658,044 (GRCm39) M23K probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcof1 C A 18: 60,966,605 (GRCm39) G329W probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vmn1r171 G T 7: 23,332,602 (GRCm39) V276L probably benign Het
Vps13b T C 15: 35,422,514 (GRCm39) L158P probably damaging Het
Vps54 A G 11: 21,256,434 (GRCm39) I634M possibly damaging Het
Vwa8 T G 14: 79,258,060 (GRCm39) S736R probably benign Het
Other mutations in Arih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Arih1 APN 9 59,333,452 (GRCm39) missense probably damaging 1.00
IGL02616:Arih1 APN 9 59,319,759 (GRCm39) missense probably benign 0.41
P0037:Arih1 UTSW 9 59,313,076 (GRCm39) missense possibly damaging 0.46
R0411:Arih1 UTSW 9 59,393,266 (GRCm39) missense possibly damaging 0.93
R0416:Arih1 UTSW 9 59,333,993 (GRCm39) splice site probably benign
R1513:Arih1 UTSW 9 59,310,663 (GRCm39) missense probably damaging 1.00
R1934:Arih1 UTSW 9 59,302,215 (GRCm39) missense probably damaging 1.00
R4880:Arih1 UTSW 9 59,344,168 (GRCm39) missense possibly damaging 0.83
R5023:Arih1 UTSW 9 59,393,515 (GRCm39) missense unknown
R5057:Arih1 UTSW 9 59,393,515 (GRCm39) missense unknown
R5317:Arih1 UTSW 9 59,300,619 (GRCm39) missense probably benign 0.02
R7348:Arih1 UTSW 9 59,393,341 (GRCm39) missense probably damaging 0.98
R8114:Arih1 UTSW 9 59,303,836 (GRCm39) missense probably benign 0.04
R8305:Arih1 UTSW 9 59,303,770 (GRCm39) missense probably benign 0.14
R9150:Arih1 UTSW 9 59,344,069 (GRCm39) missense possibly damaging 0.78
R9621:Arih1 UTSW 9 59,393,520 (GRCm39) small deletion probably benign
R9748:Arih1 UTSW 9 59,300,581 (GRCm39) missense possibly damaging 0.85
Z1191:Arih1 UTSW 9 59,393,605 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTGTTTATCCCCAAGCTCAGTTAAG -3'
(R):5'- GCAAGTACACAGTACAGTCGCTAAGG -3'

Sequencing Primer
(F):5'- CCAAGCTCAGTTAAGTTTCTCCTAAG -3'
(R):5'- CAGTCGCTAAGGTGGATTATATTTTC -3'
Posted On 2013-07-11