Incidental Mutation 'R0413:Arih2'
ID 36806
Institutional Source Beutler Lab
Gene Symbol Arih2
Ensembl Gene ENSMUSG00000064145
Gene Name ariadne RBR E3 ubiquitin protein ligase 2
Synonyms TRIAD1
MMRRC Submission 038615-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0413 (G1)
Quality Score 160
Status Validated
Chromosome 9
Chromosomal Location 108480141-108526585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108493916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 166 (Q166K)
Ref Sequence ENSEMBL: ENSMUSP00000013338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013338] [ENSMUST00000193190] [ENSMUST00000193197] [ENSMUST00000193552] [ENSMUST00000193643]
AlphaFold Q9Z1K6
Predicted Effect probably damaging
Transcript: ENSMUST00000013338
AA Change: Q166K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: Q166K

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 probably benign
Transcript: ENSMUST00000193190
AA Change: Q166K

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145
AA Change: Q166K

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 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: ENSMUST00000194290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195741
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,158,355 (GRCm39) probably benign Het
Adh1 C T 3: 137,986,193 (GRCm39) T60I probably benign Het
Agtpbp1 T A 13: 59,661,966 (GRCm39) I282F probably damaging Het
Cacna1s A G 1: 136,025,947 (GRCm39) T1031A probably benign Het
Ccdc102a C A 8: 95,629,914 (GRCm39) E542D probably benign Het
Cdk1 T C 10: 69,180,929 (GRCm39) I94V probably benign Het
Cep290 C T 10: 100,359,176 (GRCm39) Q969* probably null Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Col12a1 T C 9: 79,606,642 (GRCm39) T594A probably damaging Het
Cpox A G 16: 58,491,232 (GRCm39) T148A possibly damaging Het
Csf3r A G 4: 125,933,460 (GRCm39) probably benign Het
Csmd1 A T 8: 16,760,530 (GRCm39) C202S probably damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dnah9 T A 11: 65,998,961 (GRCm39) Y1029F probably damaging Het
Dok5 T C 2: 170,671,880 (GRCm39) probably benign Het
Dusp11 A T 6: 85,929,352 (GRCm39) probably benign Het
Edar T C 10: 58,465,262 (GRCm39) N34D probably benign Het
Efcab7 C T 4: 99,766,943 (GRCm39) T56I probably damaging Het
Entpd1 G A 19: 40,699,729 (GRCm39) V47I probably benign Het
Ephx4 A G 5: 107,551,601 (GRCm39) N62S probably benign Het
Etaa1 A T 11: 17,896,350 (GRCm39) L589* probably null Het
Fam135b T A 15: 71,335,670 (GRCm39) N508I probably benign Het
Fam193a T C 5: 34,623,552 (GRCm39) V27A possibly damaging Het
Fmnl1 A G 11: 103,084,889 (GRCm39) probably benign Het
Fstl1 A C 16: 37,641,516 (GRCm39) probably null Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gemin4 T C 11: 76,102,148 (GRCm39) Y871C probably benign Het
Get1 T G 16: 95,954,217 (GRCm39) S105R probably benign Het
Gm7247 T C 14: 51,760,929 (GRCm39) V166A probably benign Het
Gpcpd1 A T 2: 132,406,543 (GRCm39) probably benign Het
Gpnmb A G 6: 49,019,737 (GRCm39) D36G probably benign Het
Ido2 C T 8: 25,048,159 (GRCm39) probably null Het
Igfn1 G A 1: 135,895,334 (GRCm39) T1744I probably benign Het
Inf2 T G 12: 112,568,110 (GRCm39) F221V probably damaging Het
Itga10 T A 3: 96,556,375 (GRCm39) I170N probably damaging Het
Lrp6 A T 6: 134,484,587 (GRCm39) D345E probably damaging Het
Macf1 A T 4: 123,366,062 (GRCm39) S2900T probably benign Het
Med13 C A 11: 86,190,033 (GRCm39) probably benign Het
Morc3 T C 16: 93,667,362 (GRCm39) V507A probably damaging Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Myl6 C T 10: 128,328,091 (GRCm39) probably benign Het
Mylk T C 16: 34,742,314 (GRCm39) V942A probably benign Het
Myorg G T 4: 41,498,585 (GRCm39) H348Q probably benign Het
Ncdn G T 4: 126,644,327 (GRCm39) T165K possibly damaging Het
Ncf1 T C 5: 134,251,656 (GRCm39) probably benign Het
Neb T C 2: 52,180,751 (GRCm39) probably benign Het
Nid1 T A 13: 13,656,681 (GRCm39) I604N probably benign Het
Nsrp1 T C 11: 76,936,997 (GRCm39) R400G probably benign Het
Nup43 T G 10: 7,546,791 (GRCm39) I137S probably benign Het
Nynrin A G 14: 56,109,648 (GRCm39) N1585S possibly damaging Het
Obscn T A 11: 58,893,823 (GRCm39) Y6748F probably benign Het
Omg A G 11: 79,393,661 (GRCm39) S66P possibly damaging Het
Or13a27 A T 7: 139,925,108 (GRCm39) S265T possibly damaging Het
Or2y1d T C 11: 49,322,212 (GRCm39) V303A possibly damaging Het
Or4c15 A G 2: 88,759,906 (GRCm39) V251A probably benign Het
Or51b6b A T 7: 103,309,957 (GRCm39) F167I possibly damaging Het
Or52z1 A G 7: 103,437,362 (GRCm39) Y41H probably damaging Het
Or5ak22 T C 2: 85,230,019 (GRCm39) N286S probably damaging Het
Or8g27 A G 9: 39,129,566 (GRCm39) I304M probably benign Het
Or8k24 G A 2: 86,216,058 (GRCm39) R235C probably benign Het
Ormdl1 C T 1: 53,347,978 (GRCm39) probably benign Het
Ovch2 T A 7: 107,381,243 (GRCm39) I552L probably benign Het
Pcare T G 17: 72,059,212 (GRCm39) D155A probably benign Het
Pcsk9 G T 4: 106,311,538 (GRCm39) T231N probably damaging Het
Pgpep1 T C 8: 71,110,100 (GRCm39) N22S probably damaging Het
Plb1 T C 5: 32,512,706 (GRCm39) F1355L probably damaging Het
Plcg1 G T 2: 160,603,349 (GRCm39) L1173F probably damaging Het
Plch2 A T 4: 155,091,373 (GRCm39) probably null Het
Ppp1r3g T A 13: 36,153,331 (GRCm39) F250L probably damaging Het
Prkcg A G 7: 3,368,095 (GRCm39) I381V probably benign Het
Pum2 C T 12: 8,763,464 (GRCm39) A207V probably benign Het
Rabac1 T C 7: 24,669,607 (GRCm39) E166G probably damaging Het
Rad21l G A 2: 151,493,851 (GRCm39) S450L probably benign Het
Rangap1 ACACTCA ACA 15: 81,600,876 (GRCm39) probably null Het
Reg3b G T 6: 78,348,824 (GRCm39) C40F probably damaging Het
Rfx2 A G 17: 57,091,418 (GRCm39) probably benign Het
Rrp15 G A 1: 186,481,346 (GRCm39) probably benign Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sec61a2 A T 2: 5,881,165 (GRCm39) probably benign Het
Sema5a A G 15: 32,669,590 (GRCm39) K705E probably damaging Het
Setx A G 2: 29,029,290 (GRCm39) Y186C probably damaging Het
Slc22a23 T C 13: 34,367,115 (GRCm39) E631G probably damaging Het
Slc5a5 T C 8: 71,344,319 (GRCm39) T134A possibly damaging Het
Stx7 T C 10: 24,057,492 (GRCm39) S173P probably damaging Het
Sybu T C 15: 44,536,668 (GRCm39) T353A probably damaging Het
Syde2 T A 3: 145,712,887 (GRCm39) N1008K probably damaging Het
Tiam1 T C 16: 89,606,253 (GRCm39) probably benign Het
Timm10b G A 7: 105,327,537 (GRCm39) E61K probably benign Het
Tm2d1 A G 4: 98,253,810 (GRCm39) I121T probably damaging Het
Trim75 T C 8: 65,435,892 (GRCm39) E186G probably benign Het
Tti1 T C 2: 157,837,396 (GRCm39) K895E probably benign Het
Vmn1r43 A G 6: 89,846,830 (GRCm39) S219P probably damaging Het
Vmn2r73 A T 7: 85,521,087 (GRCm39) S294T possibly damaging Het
Vmn2r94 A T 17: 18,464,080 (GRCm39) F737I probably damaging Het
Vsx2 A T 12: 84,616,777 (GRCm39) T21S probably benign Het
Zfp462 G T 4: 55,010,534 (GRCm39) R833S probably damaging Het
Zfpl1 G A 19: 6,132,482 (GRCm39) P143L probably damaging 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
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
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'- ATGACACAAGATACTTTGTACCCACACC -3'
(R):5'- ACCTTTACAGTTCAGCCTTTCAGAACC -3'

Sequencing Primer
(F):5'- gccctcctctgacctctg -3'
(R):5'- CAGCCTTTCAGAACCTTATATGGTG -3'
Posted On 2013-05-09