Incidental Mutation 'R0865:Arih2'
ID 82309
Institutional Source Beutler Lab
Gene Symbol Arih2
Ensembl Gene ENSMUSG00000064145
Gene Name ariadne RBR E3 ubiquitin protein ligase 2
Synonyms TRIAD1
MMRRC Submission 039039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0865 (G1)
Quality Score 106
Status Validated
Chromosome 9
Chromosomal Location 108480141-108526585 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 108526499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013338] [ENSMUST00000193190] [ENSMUST00000193197] [ENSMUST00000193643]
AlphaFold Q9Z1K6
Predicted Effect probably benign
Transcript: ENSMUST00000013338
SMART Domains Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
RING 138 171 1.21e-1 SMART
IBR 207 269 7.29e-23 SMART
ZnF_C2HC 255 271 2.03e0 SMART
IBR 277 339 1.81e-9 SMART
RING 299 339 5.86e-1 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000098384
AA Change: T154A
SMART Domains Protein: ENSMUSP00000095986
Gene: ENSMUSG00000074075
AA Change: T154A

DomainStartEndE-ValueType
low complexity region 90 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116956
Predicted Effect probably benign
Transcript: ENSMUST00000193190
SMART Domains Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
RING 138 171 5.7e-4 SMART
IBR 207 269 2.5e-25 SMART
ZnF_C2HC 255 271 8.4e-3 SMART
Blast:IBR 277 317 2e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193197
SMART Domains Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145

DomainStartEndE-ValueType
IBR 1 36 1.5e-3 SMART
ZnF_C2HC 22 38 8.4e-3 SMART
Blast:IBR 44 79 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193643
SMART Domains Protein: ENSMUSP00000141369
Gene: ENSMUSG00000064145

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194290
Meta Mutation Damage Score 0.0814 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 98% (53/54)
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 an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene causes altered dendritic cell physiology, enhanced liver apoptosis, and complete fetal lethality that is partially modified by genetic background. On a mixed genetic background, mice that survive past weaning succumb to a severe multiorgan inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,479,843 (GRCm39) E581G probably damaging Het
Adcy5 A G 16: 35,094,841 (GRCm39) N666S probably damaging Het
Apcs T C 1: 172,721,782 (GRCm39) D188G probably benign Het
AU040320 A G 4: 126,742,677 (GRCm39) K981E possibly damaging Het
Brwd1 A T 16: 95,869,784 (GRCm39) I81K probably damaging Het
Cacng8 T A 7: 3,460,625 (GRCm39) I136N possibly damaging Het
Cdh22 A T 2: 165,022,976 (GRCm39) W32R probably damaging Het
Cel A G 2: 28,450,627 (GRCm39) S133P probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Clock A T 5: 76,414,271 (GRCm39) probably benign Het
Cox6a2 A G 7: 127,804,995 (GRCm39) probably benign Het
Cyp2b19 C A 7: 26,461,654 (GRCm39) probably benign Het
Dnah11 G A 12: 118,154,579 (GRCm39) Q234* probably null Het
Gga3 A T 11: 115,483,285 (GRCm39) N91K probably damaging Het
Idh1 T C 1: 65,200,315 (GRCm39) T350A probably benign Het
Ints11 A G 4: 155,971,564 (GRCm39) probably null Het
Itgb1 A G 8: 129,436,732 (GRCm39) probably null Het
Kank4 A T 4: 98,662,900 (GRCm39) probably benign Het
Kansl1 A T 11: 104,315,194 (GRCm39) D281E probably benign Het
Kmt2a T C 9: 44,730,067 (GRCm39) probably benign Het
Kpna4 T C 3: 69,008,750 (GRCm39) E145G probably damaging Het
Lacc1 A G 14: 77,271,584 (GRCm39) I201T possibly damaging Het
Larp7 T C 3: 127,337,884 (GRCm39) K392E probably damaging Het
Lbh T A 17: 73,228,224 (GRCm39) M23K probably benign Het
Myo15a A T 11: 60,382,514 (GRCm39) E361V probably damaging Het
Ncor2 A G 5: 125,116,046 (GRCm39) S470P probably benign Het
Ngef T A 1: 87,412,323 (GRCm39) M449L probably benign Het
Odad1 A G 7: 45,591,512 (GRCm39) T259A probably benign Het
Or2w3 T C 11: 58,556,478 (GRCm39) I31T possibly damaging Het
Or7e178 T A 9: 20,226,045 (GRCm39) Y57F probably damaging Het
Peak1 A T 9: 56,165,116 (GRCm39) D937E probably benign Het
Pnpla7 A G 2: 24,872,135 (GRCm39) K72E probably benign Het
Ptprn T G 1: 75,224,782 (GRCm39) probably null Het
Scgn C T 13: 24,146,102 (GRCm39) probably null Het
Sdk2 T C 11: 113,741,748 (GRCm39) I824V probably benign Het
Slc38a3 A G 9: 107,532,847 (GRCm39) S326P probably damaging Het
Spen A G 4: 141,199,181 (GRCm39) S3126P probably benign Het
Tbcd T C 11: 121,493,815 (GRCm39) C902R possibly damaging Het
Tmem63b T C 17: 45,972,445 (GRCm39) I721V probably benign Het
Trim30c A G 7: 104,039,658 (GRCm39) S46P probably damaging Het
Trim59 T C 3: 68,944,941 (GRCm39) D133G probably damaging Het
Trpm7 A T 2: 126,641,159 (GRCm39) probably null Het
Ttll10 A G 4: 156,128,135 (GRCm39) L391P probably damaging Het
Ttn T C 2: 76,623,585 (GRCm39) T15331A possibly damaging Het
Vmn1r237 C T 17: 21,534,976 (GRCm39) T233I probably damaging Het
Vmn2r115 A T 17: 23,565,382 (GRCm39) D423V possibly damaging Het
Vmn2r25 T A 6: 123,829,976 (GRCm39) R58S probably benign Het
Vmn2r71 A T 7: 85,268,516 (GRCm39) I240F probably benign Het
Wdr3 A G 3: 100,060,112 (GRCm39) probably benign Het
Zc3h14 T C 12: 98,745,528 (GRCm39) probably null Het
Zc3hav1 C T 6: 38,330,837 (GRCm39) probably benign Het
Zfp335 A T 2: 164,741,415 (GRCm39) probably null Het
Other mutations in Arih2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Arih2 APN 9 108,482,609 (GRCm39) missense probably damaging 1.00
IGL03213:Arih2 APN 9 108,484,546 (GRCm39) missense probably damaging 1.00
R0009:Arih2 UTSW 9 108,488,926 (GRCm39) missense probably damaging 1.00
R0009:Arih2 UTSW 9 108,488,926 (GRCm39) missense probably damaging 1.00
R0314:Arih2 UTSW 9 108,485,878 (GRCm39) missense probably damaging 1.00
R0413:Arih2 UTSW 9 108,493,916 (GRCm39) missense probably damaging 0.98
R0450:Arih2 UTSW 9 108,482,291 (GRCm39) missense possibly damaging 0.57
R0469:Arih2 UTSW 9 108,482,291 (GRCm39) missense possibly damaging 0.57
R2099:Arih2 UTSW 9 108,493,937 (GRCm39) missense probably damaging 1.00
R2913:Arih2 UTSW 9 108,521,275 (GRCm39) missense probably damaging 1.00
R4383:Arih2 UTSW 9 108,521,476 (GRCm39) start codon destroyed probably benign 0.41
R4636:Arih2 UTSW 9 108,491,013 (GRCm39) missense probably damaging 1.00
R5033:Arih2 UTSW 9 108,488,859 (GRCm39) unclassified probably benign
R5562:Arih2 UTSW 9 108,484,546 (GRCm39) missense probably damaging 1.00
R5976:Arih2 UTSW 9 108,485,172 (GRCm39) makesense probably null
R6248:Arih2 UTSW 9 108,488,841 (GRCm39) missense probably damaging 0.97
R8312:Arih2 UTSW 9 108,521,473 (GRCm39) missense probably damaging 0.99
R8349:Arih2 UTSW 9 108,488,872 (GRCm39) missense possibly damaging 0.86
R8449:Arih2 UTSW 9 108,488,872 (GRCm39) missense possibly damaging 0.86
R8883:Arih2 UTSW 9 108,486,992 (GRCm39) missense probably damaging 1.00
R8911:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R8912:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R8914:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9091:Arih2 UTSW 9 108,493,890 (GRCm39) missense probably damaging 1.00
R9270:Arih2 UTSW 9 108,493,890 (GRCm39) missense probably damaging 1.00
R9348:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9349:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9350:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9409:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9410:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9411:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9415:Arih2 UTSW 9 108,486,986 (GRCm39) missense probably damaging 1.00
R9465:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9466:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9478:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9479:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9536:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9776:Arih2 UTSW 9 108,484,504 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAACAAACAGTGCGGCTGGCG -3'
(R):5'- GAGGAAGCGATTCCAACCGACTAC -3'

Sequencing Primer
(F):5'- TCCGGGAGTGCCTATCAGTC -3'
(R):5'- TACGCAGTCGTCAGAAGC -3'
Posted On 2013-11-08