Incidental Mutation 'IGL00933:Arrdc3'
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ID28857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc3
Ensembl Gene ENSMUSG00000074794
Gene Namearrestin domain containing 3
SynonymsmKIAA1376; AI450344
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.424) question?
Stock #IGL00933
Quality Score
Status
Chromosome13
Chromosomal Location80883384-80896042 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 80891055 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099356] [ENSMUST00000159690] [ENSMUST00000161441]
Predicted Effect probably benign
Transcript: ENSMUST00000099356
SMART Domains Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794

DomainStartEndE-ValueType
Pfam:Arrestin_N 9 165 3.4e-35 PFAM
Arrestin_C 187 314 1.25e-29 SMART
low complexity region 319 331 N/A INTRINSIC
low complexity region 335 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159090
Predicted Effect probably benign
Transcript: ENSMUST00000159690
SMART Domains Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794

DomainStartEndE-ValueType
Pfam:Arrestin_N 9 165 3.5e-38 PFAM
Arrestin_C 187 314 1.25e-29 SMART
low complexity region 319 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159856
Predicted Effect probably benign
Transcript: ENSMUST00000161441
SMART Domains Protein: ENSMUSP00000125455
Gene: ENSMUSG00000074794

DomainStartEndE-ValueType
Pfam:Arrestin_C 4 94 2e-10 PFAM
low complexity region 99 111 N/A INTRINSIC
low complexity region 115 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162904
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit resistance to age-related obesity, insulin resistance, and hepatic steatosis. Mice homozygous for a different gene trap allele exhibit resistance to obesity, embryonic lethality when dams are fed a standard chow and dandruff due to very thin skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brca2 A G 5: 150,542,404 S1878G probably benign Het
Cpa6 T C 1: 10,337,370 H314R probably benign Het
Ehbp1l1 A G 19: 5,717,933 I1114T probably benign Het
Eml3 G A 19: 8,936,398 W73* probably null Het
Fmo4 G T 1: 162,794,023 Q540K probably benign Het
Fstl4 G A 11: 53,186,761 G782R possibly damaging Het
Itga11 T C 9: 62,769,305 I925T possibly damaging Het
Itsn2 T G 12: 4,707,540 F1411C probably damaging Het
Lmna A T 3: 88,482,549 C590S possibly damaging Het
Magi3 A G 3: 104,015,847 Y1185H probably benign Het
Marf1 A G 16: 14,117,357 Y1516H probably damaging Het
Mast4 T C 13: 102,735,366 D2306G probably damaging Het
Ncoa6 A G 2: 155,415,397 V742A probably damaging Het
Nol4l A G 2: 153,477,936 F175S probably damaging Het
Olfr826 A T 10: 130,180,214 M222K probably benign Het
Orm2 T C 4: 63,364,152 probably benign Het
Pik3cb T A 9: 99,101,286 T90S probably damaging Het
Plekhg2 G A 7: 28,360,689 P1072S probably benign Het
Rgr A T 14: 37,038,918 Y227* probably null Het
Snd1 T C 6: 28,512,986 probably null Het
Zfp560 A G 9: 20,348,808 S253P probably benign Het
Other mutations in Arrdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Arrdc3 APN 13 80890572 missense probably damaging 1.00
IGL02006:Arrdc3 APN 13 80883774 missense probably damaging 1.00
IGL02009:Arrdc3 APN 13 80893380 missense probably benign 0.20
IGL02272:Arrdc3 APN 13 80891650 splice site probably benign
IGL02634:Arrdc3 APN 13 80890765 missense probably damaging 1.00
IGL03337:Arrdc3 APN 13 80890647 missense probably benign 0.01
R0008:Arrdc3 UTSW 13 80891075 missense probably damaging 1.00
R0008:Arrdc3 UTSW 13 80883892 nonsense probably null
R0008:Arrdc3 UTSW 13 80891075 missense probably damaging 1.00
R0838:Arrdc3 UTSW 13 80889247 splice site probably benign
R0843:Arrdc3 UTSW 13 80890803 splice site probably benign
R1211:Arrdc3 UTSW 13 80890698 missense possibly damaging 0.76
R1404:Arrdc3 UTSW 13 80883854 missense probably damaging 1.00
R1404:Arrdc3 UTSW 13 80883854 missense probably damaging 1.00
R1992:Arrdc3 UTSW 13 80883689 missense probably damaging 1.00
R4446:Arrdc3 UTSW 13 80889063 intron probably benign
R4540:Arrdc3 UTSW 13 80890671 missense possibly damaging 0.95
R4718:Arrdc3 UTSW 13 80883867 missense possibly damaging 0.48
R5138:Arrdc3 UTSW 13 80891065 missense probably damaging 1.00
R5814:Arrdc3 UTSW 13 80890579 missense possibly damaging 0.92
R6514:Arrdc3 UTSW 13 80889190 missense probably damaging 1.00
R6899:Arrdc3 UTSW 13 80889211 missense probably damaging 0.99
R6985:Arrdc3 UTSW 13 80883657 missense probably damaging 0.99
R7076:Arrdc3 UTSW 13 80890696 missense probably damaging 1.00
R7670:Arrdc3 UTSW 13 80889093 missense probably damaging 1.00
R8342:Arrdc3 UTSW 13 80883671 missense probably benign 0.09
Posted On2013-04-17