Incidental Mutation 'IGL02616:Arih1'
ID 300649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arih1
Ensembl Gene ENSMUSG00000025234
Gene Name ariadne RBR E3 ubiquitin protein ligase 1
Synonyms UIP77
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02616
Quality Score
Status
Chromosome 9
Chromosomal Location 59295541-59393901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59319759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 285 (V285A)
Ref Sequence ENSEMBL: ENSMUSP00000126531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026264] [ENSMUST00000165322] [ENSMUST00000171975]
AlphaFold Q9Z1K5
Predicted Effect probably benign
Transcript: ENSMUST00000026264
AA Change: V285A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234
AA Change: V285A

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
AA Change: V206A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
AA Change: V206A

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 probably benign
Transcript: ENSMUST00000171975
AA Change: V285A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
AA Change: V285A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,644 (GRCm39) R190G probably benign Het
4931406B18Rik T C 7: 43,150,437 (GRCm39) probably null Het
Adcy4 T C 14: 56,020,971 (GRCm39) probably null Het
Ahnak C A 19: 8,982,991 (GRCm39) P1425Q probably benign Het
Atp13a1 T C 8: 70,257,963 (GRCm39) V906A probably benign Het
Atp2a2 A T 5: 122,599,747 (GRCm39) I548N probably benign Het
C2cd5 A T 6: 142,980,837 (GRCm39) S643T probably benign Het
Calcoco1 T C 15: 102,624,285 (GRCm39) D210G probably damaging Het
Cep128 A G 12: 91,263,032 (GRCm39) I289T probably benign Het
Ces1c C T 8: 93,833,243 (GRCm39) M407I probably benign Het
Cntln T G 4: 85,033,689 (GRCm39) probably null Het
Cypt12 T A 3: 18,002,892 (GRCm39) H88Q possibly damaging Het
Ddc T A 11: 11,830,645 (GRCm39) probably benign Het
Dnajb12 T C 10: 59,728,685 (GRCm39) probably null Het
Gata2 A G 6: 88,182,462 (GRCm39) T477A possibly damaging Het
Gckr A G 5: 31,484,419 (GRCm39) D619G probably benign Het
Gm5699 A T 1: 31,037,432 (GRCm39) noncoding transcript Het
Gm8257 T A 14: 44,892,683 (GRCm39) S106C probably damaging Het
Gpr15 A C 16: 58,538,567 (GRCm39) L174R probably damaging Het
Hnrnph3 T A 10: 62,855,264 (GRCm39) H7L possibly damaging Het
Ide A T 19: 37,275,455 (GRCm39) I518N unknown Het
Igdcc4 G A 9: 65,040,360 (GRCm39) G957D probably damaging Het
Igsf10 G A 3: 59,226,027 (GRCm39) P2549S probably benign Het
Kcnj9 A G 1: 172,153,531 (GRCm39) S198P probably damaging Het
Lclat1 T C 17: 73,476,528 (GRCm39) I45T probably benign Het
Met T C 6: 17,553,346 (GRCm39) L1044S probably damaging Het
Msh4 T C 3: 153,563,160 (GRCm39) T739A probably benign Het
Ncam1 T C 9: 49,419,988 (GRCm39) E776G probably benign Het
Ndufv3 G A 17: 31,746,643 (GRCm39) V178M probably damaging Het
Nlgn1 T C 3: 25,488,409 (GRCm39) Y613C probably damaging Het
Nmbr T C 10: 14,636,431 (GRCm39) probably benign Het
Orc1 T A 4: 108,452,676 (GRCm39) W184R probably benign Het
Pde6b T C 5: 108,579,407 (GRCm39) S850P probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pnpt1 T C 11: 29,085,505 (GRCm39) probably benign Het
Pomt2 T A 12: 87,171,636 (GRCm39) H378L probably damaging Het
Sh3gl3 C T 7: 81,934,226 (GRCm39) probably benign Het
Thsd7a A T 6: 12,408,984 (GRCm39) N679K probably damaging Het
Tns2 T C 15: 102,019,850 (GRCm39) M572T probably benign Het
Twf2 C T 9: 106,089,955 (GRCm39) Q103* probably null Het
Uncx T C 5: 139,532,523 (GRCm39) I196T possibly damaging Het
Urgcp A G 11: 5,667,400 (GRCm39) S313P probably damaging Het
Vmn1r222 A T 13: 23,416,311 (GRCm39) C301S possibly damaging Het
Vmn2r111 T A 17: 22,790,031 (GRCm39) Q325L possibly damaging Het
Vps4a C T 8: 107,768,909 (GRCm39) R236W probably damaging Het
Wdr19 T A 5: 65,380,924 (GRCm39) H344Q probably damaging Het
Wiz A T 17: 32,578,443 (GRCm39) D356E probably damaging Het
Zc3h10 T C 10: 128,380,751 (GRCm39) E202G probably benign Het
Other mutations in Arih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Arih1 APN 9 59,333,452 (GRCm39) missense probably damaging 1.00
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
R0602:Arih1 UTSW 9 59,302,154 (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
Posted On 2015-04-16