Incidental Mutation 'IGL02114:Arih1'
ID280281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arih1
Ensembl Gene ENSMUSG00000025234
Gene Nameariadne RBR E3 ubiquitin protein ligase 1
SynonymsUIP77
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #IGL02114
Quality Score
Status
Chromosome9
Chromosomal Location59388258-59486618 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59426169 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 229 (C229S)
Ref Sequence ENSEMBL: ENSMUSP00000126531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026264] [ENSMUST00000165322] [ENSMUST00000171975]
Predicted Effect probably damaging
Transcript: ENSMUST00000026264
AA Change: C229S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234
AA Change: C229S

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 damaging
Transcript: ENSMUST00000165322
AA Change: C150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
AA Change: C150S

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: ENSMUST00000168497
Predicted Effect probably damaging
Transcript: ENSMUST00000171975
AA Change: C229S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
AA Change: C229S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Arih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Arih1 APN 9 59412476 missense probably benign 0.41
P0037:Arih1 UTSW 9 59405793 missense possibly damaging 0.46
R0411:Arih1 UTSW 9 59485983 missense possibly damaging 0.93
R0416:Arih1 UTSW 9 59426710 splice site probably benign
R0602:Arih1 UTSW 9 59394871 splice site probably benign
R1513:Arih1 UTSW 9 59403380 missense probably damaging 1.00
R1934:Arih1 UTSW 9 59394932 missense probably damaging 1.00
R4880:Arih1 UTSW 9 59436885 missense possibly damaging 0.83
R5023:Arih1 UTSW 9 59486232 missense unknown
R5057:Arih1 UTSW 9 59486232 missense unknown
R5317:Arih1 UTSW 9 59393336 missense probably benign 0.02
R7348:Arih1 UTSW 9 59486058 missense probably damaging 0.98
R8114:Arih1 UTSW 9 59396553 missense probably benign 0.04
Posted On2015-04-16