Incidental Mutation 'IGL01861:Arrdc5'
ID 178322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc5
Ensembl Gene ENSMUSG00000073380
Gene Name arrestin domain containing 5
Synonyms 1700013E09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01861
Quality Score
Status
Chromosome 17
Chromosomal Location 56601111-56607262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56607144 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q497K5
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: 53,405,912 (GRCm39) R1252L probably null Het
Cd34 T C 1: 194,640,888 (GRCm39) probably benign Het
Cmya5 A G 13: 93,226,256 (GRCm39) V2944A probably damaging Het
Cntnap3 C T 13: 64,946,922 (GRCm39) G169D probably damaging Het
Dnah7a T A 1: 53,679,508 (GRCm39) T326S probably benign Het
Dnah7a C T 1: 53,623,608 (GRCm39) probably benign Het
Fam133b A G 5: 3,614,242 (GRCm39) probably benign Het
Fhod1 A G 8: 106,057,808 (GRCm39) S906P probably damaging Het
Gli3 A G 13: 15,899,910 (GRCm39) Y1099C probably damaging Het
Gpr63 C T 4: 25,008,545 (GRCm39) T423M probably damaging Het
Hpx A T 7: 105,241,393 (GRCm39) Y339* probably null Het
Lingo2 A T 4: 35,709,526 (GRCm39) D151E probably benign Het
Mill2 A T 7: 18,590,565 (GRCm39) Q215L probably damaging Het
Naf1 T C 8: 67,317,185 (GRCm39) probably benign Het
Ndufv1 A G 19: 4,058,803 (GRCm39) V235A probably benign Het
Or8b41 T C 9: 38,055,046 (GRCm39) I205T probably damaging Het
Pafah1b1 A T 11: 74,581,403 (GRCm39) N22K possibly damaging Het
Prune1 G T 3: 95,172,868 (GRCm39) R66S probably damaging Het
Ptcd1 A T 5: 145,095,587 (GRCm39) I291N possibly damaging Het
Ptprk A G 10: 28,259,441 (GRCm39) I294V possibly damaging Het
Rfx6 G A 10: 51,597,675 (GRCm39) V471M probably damaging Het
Rnase6 C A 14: 51,367,748 (GRCm39) Q47K probably benign Het
Skint5 T C 4: 113,417,021 (GRCm39) probably benign Het
Srcap T A 7: 127,124,457 (GRCm39) probably benign Het
Stap1 A G 5: 86,244,383 (GRCm39) I217V possibly damaging Het
Taf1d T C 9: 15,220,035 (GRCm39) probably null Het
Tecta T C 9: 42,284,658 (GRCm39) H809R probably benign Het
Tex15 A G 8: 34,060,717 (GRCm39) N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,229,374 (GRCm39) probably benign Het
Uhrf2 A G 19: 30,063,804 (GRCm39) Y589C probably damaging Het
Zfp616 A T 11: 73,973,742 (GRCm39) T4S possibly damaging Het
Zfp687 A T 3: 94,919,171 (GRCm39) F200L probably damaging Het
Other mutations in Arrdc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Arrdc5 APN 17 56,601,262 (GRCm39) missense probably damaging 1.00
IGL01830:Arrdc5 APN 17 56,601,652 (GRCm39) missense probably damaging 0.99
IGL02210:Arrdc5 APN 17 56,607,026 (GRCm39) missense probably damaging 1.00
IGL03379:Arrdc5 APN 17 56,601,589 (GRCm39) nonsense probably null
R0256:Arrdc5 UTSW 17 56,601,382 (GRCm39) missense probably damaging 0.99
R0638:Arrdc5 UTSW 17 56,607,020 (GRCm39) missense possibly damaging 0.94
R1491:Arrdc5 UTSW 17 56,601,222 (GRCm39) missense probably damaging 0.99
R1672:Arrdc5 UTSW 17 56,607,144 (GRCm39) missense possibly damaging 0.78
R2094:Arrdc5 UTSW 17 56,604,856 (GRCm39) missense probably benign 0.44
R4326:Arrdc5 UTSW 17 56,601,420 (GRCm39) missense possibly damaging 0.92
R4327:Arrdc5 UTSW 17 56,601,420 (GRCm39) missense possibly damaging 0.92
R5254:Arrdc5 UTSW 17 56,604,897 (GRCm39) missense probably benign 0.19
R5363:Arrdc5 UTSW 17 56,607,138 (GRCm39) missense probably damaging 0.99
R5610:Arrdc5 UTSW 17 56,604,846 (GRCm39) missense probably benign
R5740:Arrdc5 UTSW 17 56,604,838 (GRCm39) missense probably benign 0.39
R6054:Arrdc5 UTSW 17 56,601,420 (GRCm39) missense possibly damaging 0.92
R7101:Arrdc5 UTSW 17 56,601,522 (GRCm39) missense probably damaging 1.00
R7439:Arrdc5 UTSW 17 56,604,931 (GRCm39) missense probably benign 0.05
R8878:Arrdc5 UTSW 17 56,601,342 (GRCm39) missense probably benign 0.00
Z1176:Arrdc5 UTSW 17 56,607,189 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07