Incidental Mutation 'IGL03009:Arrdc4'
ID407692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc4
Ensembl Gene ENSMUSG00000042659
Gene Namearrestin domain containing 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL03009
Quality Score
Status
Chromosome7
Chromosomal Location68736995-68749241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68739493 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 411 (V411A)
Ref Sequence ENSEMBL: ENSMUSP00000044578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048068] [ENSMUST00000118110]
Predicted Effect probably damaging
Transcript: ENSMUST00000048068
AA Change: V411A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: V411A

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 166 6.2e-35 PFAM
Arrestin_C 188 315 8.24e-30 SMART
low complexity region 336 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118110
SMART Domains Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659

DomainStartEndE-ValueType
Pfam:Arrestin_N 17 166 6.6e-35 PFAM
Arrestin_C 188 296 6.46e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show a marked reduction in the amount of extracellular vesicles (EVs) released from mouse gut explants. Mutant mouse embryonic fibroblasts exhibit reduced EV release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl C A 15: 80,952,243 S67* probably null Het
Cnnm2 A G 19: 46,877,355 Y794C probably damaging Het
Flt4 G T 11: 49,627,124 K330N probably benign Het
Foxs1 T C 2: 152,932,929 H68R probably damaging Het
Gm21969 C T 4: 139,607,654 S333L probably damaging Het
Gm7008 T A 12: 40,223,547 probably benign Het
Gmppa A G 1: 75,439,370 Y137C probably damaging Het
Grwd1 A G 7: 45,827,137 probably benign Het
Kdm5a C T 6: 120,430,086 R1421W probably damaging Het
Myo5b A G 18: 74,760,968 T1749A possibly damaging Het
Neb A G 2: 52,179,456 probably benign Het
Ntng1 T C 3: 109,934,702 K252E possibly damaging Het
Nup133 A G 8: 123,933,500 I353T possibly damaging Het
Olfr613 C A 7: 103,552,527 C247* probably null Het
Osbpl11 T C 16: 33,241,730 probably benign Het
Pcsk9 C T 4: 106,454,345 G230S probably damaging Het
Polr1b A G 2: 129,126,068 N1127S probably damaging Het
Rasgrf1 A T 9: 89,991,703 K688N possibly damaging Het
Rhot1 A G 11: 80,220,254 probably null Het
Rims2 A T 15: 39,566,997 Q1159L possibly damaging Het
Ros1 T C 10: 52,145,907 I594V probably benign Het
Slc43a2 G A 11: 75,572,376 C536Y probably benign Het
Stip1 A T 19: 7,021,121 V537E probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Vav1 A T 17: 57,296,582 T94S probably benign Het
Zfr A T 15: 12,162,235 I824F probably damaging Het
Other mutations in Arrdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Arrdc4 APN 7 68744832 nonsense probably null
IGL02164:Arrdc4 APN 7 68739537 unclassified probably benign
R0454:Arrdc4 UTSW 7 68741871 missense probably damaging 1.00
R1146:Arrdc4 UTSW 7 68740008 missense probably damaging 0.99
R1146:Arrdc4 UTSW 7 68740008 missense probably damaging 0.99
R1588:Arrdc4 UTSW 7 68741736 missense possibly damaging 0.95
R1764:Arrdc4 UTSW 7 68741874 missense probably damaging 1.00
R1956:Arrdc4 UTSW 7 68741799 missense probably benign 0.16
R4717:Arrdc4 UTSW 7 68741658 missense probably damaging 0.98
R6321:Arrdc4 UTSW 7 68749045 missense probably benign 0.21
R6784:Arrdc4 UTSW 7 68748846 missense probably benign 0.00
R7329:Arrdc4 UTSW 7 68741027 missense probably damaging 1.00
R7689:Arrdc4 UTSW 7 68741875 missense probably damaging 1.00
R7909:Arrdc4 UTSW 7 68745176 missense probably benign 0.30
R7911:Arrdc4 UTSW 7 68745176 missense probably benign 0.30
R7970:Arrdc4 UTSW 7 68741072 missense probably damaging 1.00
Posted On2016-08-02