Incidental Mutation 'IGL01861:Arrdc5'
ID178322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc5
Ensembl Gene ENSMUSG00000073380
Gene Namearrestin domain containing 5
Synonyms1700013E09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01861
Quality Score
Status
Chromosome17
Chromosomal Location56294113-56300286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56300144 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 34 (T34A)
Ref Sequence ENSEMBL: ENSMUSP00000094906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000097303] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039] [ENSMUST00000142387]
Predicted Effect probably benign
Transcript: ENSMUST00000001258
SMART Domains Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
Pfam:DUF3590 136 232 1.1e-42 PFAM
PHD 322 369 6.39e-12 SMART
RING 323 368 1.09e0 SMART
low complexity region 381 398 N/A INTRINSIC
SRA 419 590 8.5e-113 SMART
low complexity region 635 653 N/A INTRINSIC
RING 713 751 8.43e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000097303
AA Change: T34A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: T34A

DomainStartEndE-ValueType
Pfam:Arrestin_N 7 144 3.3e-21 PFAM
Arrestin_C 170 307 7.47e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113035
SMART Domains Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
Pfam:DUF3590 136 232 1.1e-42 PFAM
PHD 314 361 6.39e-12 SMART
RING 315 360 1.09e0 SMART
low complexity region 373 390 N/A INTRINSIC
SRA 411 582 8.5e-113 SMART
low complexity region 627 645 N/A INTRINSIC
RING 705 743 8.43e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113038
SMART Domains Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
Pfam:DUF3590 136 232 1.1e-42 PFAM
PHD 314 361 6.39e-12 SMART
RING 315 360 1.09e0 SMART
low complexity region 373 390 N/A INTRINSIC
SRA 411 582 8.5e-113 SMART
low complexity region 627 645 N/A INTRINSIC
RING 705 743 8.43e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113039
SMART Domains Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
Pfam:TTD 128 281 8e-61 PFAM
PHD 322 369 6.39e-12 SMART
RING 323 368 1.09e0 SMART
low complexity region 381 398 N/A INTRINSIC
SRA 419 590 8.5e-113 SMART
low complexity region 635 653 N/A INTRINSIC
RING 713 751 8.43e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142387
SMART Domains Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm C A 9: 53,494,612 R1252L probably null Het
Cd34 T C 1: 194,958,580 probably benign Het
Cmya5 A G 13: 93,089,748 V2944A probably damaging Het
Cntnap3 C T 13: 64,799,108 G169D probably damaging Het
Dnah7a T A 1: 53,640,349 T326S probably benign Het
Dnah7a C T 1: 53,584,449 probably benign Het
Fam133b A G 5: 3,564,242 probably benign Het
Fhod1 A G 8: 105,331,176 S906P probably damaging Het
Gli3 A G 13: 15,725,325 Y1099C probably damaging Het
Gpr63 C T 4: 25,008,545 T423M probably damaging Het
Hpx A T 7: 105,592,186 Y339* probably null Het
Lingo2 A T 4: 35,709,526 D151E probably benign Het
Mill2 A T 7: 18,856,640 Q215L probably damaging Het
Naf1 T C 8: 66,864,533 probably benign Het
Ndufv1 A G 19: 4,008,803 V235A probably benign Het
Olfr890 T C 9: 38,143,750 I205T probably damaging Het
Pafah1b1 A T 11: 74,690,577 N22K possibly damaging Het
Prune1 G T 3: 95,265,557 R66S probably damaging Het
Ptcd1 A T 5: 145,158,777 I291N possibly damaging Het
Ptprk A G 10: 28,383,445 I294V possibly damaging Het
Rfx6 G A 10: 51,721,579 V471M probably damaging Het
Rnase6 C A 14: 51,130,291 Q47K probably benign Het
Skint5 T C 4: 113,559,824 probably benign Het
Srcap T A 7: 127,525,285 probably benign Het
Stap1 A G 5: 86,096,524 I217V possibly damaging Het
Taf1d T C 9: 15,308,739 probably null Het
Tecta T C 9: 42,373,362 H809R probably benign Het
Tex15 A G 8: 33,570,689 N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,179,374 probably benign Het
Uhrf2 A G 19: 30,086,404 Y589C probably damaging Het
Zfp616 A T 11: 74,082,916 T4S possibly damaging Het
Zfp687 A T 3: 95,011,860 F200L probably damaging Het
Other mutations in Arrdc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Arrdc5 APN 17 56294262 missense probably damaging 1.00
IGL01830:Arrdc5 APN 17 56294652 missense probably damaging 0.99
IGL02210:Arrdc5 APN 17 56300026 missense probably damaging 1.00
IGL03379:Arrdc5 APN 17 56294589 nonsense probably null
R0256:Arrdc5 UTSW 17 56294382 missense probably damaging 0.99
R0638:Arrdc5 UTSW 17 56300020 missense possibly damaging 0.94
R1491:Arrdc5 UTSW 17 56294222 missense probably damaging 0.99
R1672:Arrdc5 UTSW 17 56300144 missense possibly damaging 0.78
R2094:Arrdc5 UTSW 17 56297856 missense probably benign 0.44
R4326:Arrdc5 UTSW 17 56294420 missense possibly damaging 0.92
R4327:Arrdc5 UTSW 17 56294420 missense possibly damaging 0.92
R5254:Arrdc5 UTSW 17 56297897 missense probably benign 0.19
R5363:Arrdc5 UTSW 17 56300138 missense probably damaging 0.99
R5610:Arrdc5 UTSW 17 56297846 missense probably benign
R5740:Arrdc5 UTSW 17 56297838 missense probably benign 0.39
R6054:Arrdc5 UTSW 17 56294420 missense possibly damaging 0.92
R7101:Arrdc5 UTSW 17 56294522 missense not run
Posted On2014-05-07