Incidental Mutation 'R5033:Arih2'
ID 389375
Institutional Source Beutler Lab
Gene Symbol Arih2
Ensembl Gene ENSMUSG00000064145
Gene Name ariadne RBR E3 ubiquitin protein ligase 2
Synonyms TRIAD1
MMRRC Submission 042624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5033 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 108480141-108526585 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AGCCG to AG at 108488859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000013338] [ENSMUST00000193190] [ENSMUST00000193197] [ENSMUST00000193552]
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 noncoding transcript
Transcript: ENSMUST00000192686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192853
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: ENSMUST00000193552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195741
Predicted Effect probably benign
Transcript: ENSMUST00000194073
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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 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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P probably benign 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
R0865:Arih2 UTSW 9 108,526,499 (GRCm39) utr 5 prime probably benign
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
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'- AACTATAATACTAAGCATGGCAGTG -3'
(R):5'- AAGATCAGGAAGCACTCTGC -3'

Sequencing Primer
(F):5'- ATGGCAGTGTCCAAAGTCTC -3'
(R):5'- GACCTCAAGAAGTGATTTTGCC -3'
Posted On 2016-06-06