Incidental Mutation 'R5317:Arih1'
ID 405876
Institutional Source Beutler Lab
Gene Symbol Arih1
Ensembl Gene ENSMUSG00000025234
Gene Name ariadne RBR E3 ubiquitin protein ligase 1
Synonyms UIP77
MMRRC Submission 042900-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R5317 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59295541-59393901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59300619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 542 (H542Q)
Ref Sequence ENSEMBL: ENSMUSP00000126531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026264] [ENSMUST00000165322] [ENSMUST00000171856] [ENSMUST00000171975]
AlphaFold Q9Z1K5
Predicted Effect probably benign
Transcript: ENSMUST00000026264
SMART Domains Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234

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: H463Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
AA Change: H463Q

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: ENSMUST00000168456
Predicted Effect probably benign
Transcript: ENSMUST00000171856
Predicted Effect probably benign
Transcript: ENSMUST00000171975
AA Change: H542Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
AA Change: H542Q

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccn4 T G 15: 66,789,131 (GRCm39) S206A probably benign Het
Cnot8 T C 11: 58,004,029 (GRCm39) S155P probably damaging Het
Dcc C T 18: 71,517,226 (GRCm39) E810K possibly damaging Het
Dmrt2 T C 19: 25,650,844 (GRCm39) V10A probably benign Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Eif4a3 G T 11: 119,185,490 (GRCm39) H117N probably damaging Het
Fhip2a T A 19: 57,370,141 (GRCm39) probably null Het
Gpr179 T A 11: 97,228,671 (GRCm39) Q1161H probably damaging Het
Grm1 T G 10: 10,622,443 (GRCm39) M427L possibly damaging Het
Grxcr2 T A 18: 42,131,916 (GRCm39) H51L probably damaging Het
Il1rn C T 2: 24,239,554 (GRCm39) T150I probably benign Het
Kcnc4 C T 3: 107,366,055 (GRCm39) R51H probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lrrc37 T C 11: 103,504,971 (GRCm39) I2332M possibly damaging Het
Mcm9 G A 10: 53,414,330 (GRCm39) P250L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pan3 T C 5: 147,480,020 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,885,887 (GRCm39) D352E probably benign Het
Pdgfa A G 5: 138,974,102 (GRCm39) probably null Het
Pkhd1 T C 1: 20,520,528 (GRCm39) D1938G probably damaging Het
Plac8 C T 5: 100,704,345 (GRCm39) probably null Het
Rab11fip3 T C 17: 26,287,052 (GRCm39) E367G possibly damaging Het
Sgo2a C T 1: 58,054,683 (GRCm39) P289L probably benign Het
Slc22a18 T C 7: 143,052,896 (GRCm39) Y374H probably damaging Het
Slco2a1 T C 9: 102,956,778 (GRCm39) V530A probably benign Het
Spty2d1 A T 7: 46,648,049 (GRCm39) S293R possibly damaging Het
Stt3b G T 9: 115,081,578 (GRCm39) Y569* probably null Het
Tas2r140 A G 6: 133,032,543 (GRCm39) Y72H probably benign Het
Usp35 C T 7: 96,960,846 (GRCm39) R860H probably damaging Het
Vmn2r130 T A 17: 23,282,557 (GRCm39) M79K probably benign Het
Vsig10l T C 7: 43,114,247 (GRCm39) S190P probably damaging Het
Wwc2 C T 8: 48,300,590 (GRCm39) D958N unknown Het
Zfp318 AAGAAGG A 17: 46,723,463 (GRCm39) probably benign Het
Other mutations in Arih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Arih1 APN 9 59,333,452 (GRCm39) missense probably damaging 1.00
IGL02616:Arih1 APN 9 59,319,759 (GRCm39) missense probably benign 0.41
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
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
Predicted Primers PCR Primer
(F):5'- AAACAGAATTCTGGTACTACAGACC -3'
(R):5'- TTGGTTTTCATCCAGCAGCC -3'

Sequencing Primer
(F):5'- ATTCTGGTACTACAGACCAGCGG -3'
(R):5'- GAGGCATCTTGATAAACCTGTGC -3'
Posted On 2016-07-22