Incidental Mutation 'IGL02566:Arl4d'
ID298836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl4d
Ensembl Gene ENSMUSG00000034936
Gene NameADP-ribosylation factor-like 4D
SynonymsArf4l, Arfl4, Arl5, 1110036H21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02566
Quality Score
Status
Chromosome11
Chromosomal Location101665541-101667832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101667154 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 169 (S169G)
Ref Sequence ENSEMBL: ENSMUSP00000035918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039388]
Predicted Effect probably damaging
Transcript: ENSMUST00000039388
AA Change: S169G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035918
Gene: ENSMUSG00000034936
AA Change: S169G

DomainStartEndE-ValueType
ARF 1 191 2.08e-44 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik C T 7: 118,752,832 A154V probably benign Het
Bbx A T 16: 50,223,240 probably benign Het
Blm A T 7: 80,474,196 M959K probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyb5d1 T C 11: 69,393,768 N186S probably benign Het
Elk3 A G 10: 93,265,463 L142P probably damaging Het
Gk5 G A 9: 96,129,046 D70N possibly damaging Het
Gm11492 T G 11: 87,567,642 S281A probably benign Het
Gpr84 T C 15: 103,308,723 D309G probably benign Het
Greb1l T C 18: 10,503,299 V450A probably damaging Het
Gucy1b1 A G 3: 82,058,329 F70S probably damaging Het
Jmjd4 T A 11: 59,455,054 M320K probably damaging Het
Map10 A G 8: 125,671,755 N629S probably benign Het
Nmd3 G T 3: 69,739,914 probably benign Het
Obscn G T 11: 59,068,147 T3359K probably damaging Het
Olfr31 C A 14: 14,328,138 T9K probably benign Het
Pkhd1l1 A G 15: 44,526,054 probably null Het
Plcb1 T C 2: 135,472,263 F1212L probably benign Het
Rabep1 A G 11: 70,917,714 S459G probably damaging Het
Slc26a1 A G 5: 108,673,799 S75P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sult1d1 A T 5: 87,564,811 L58Q probably damaging Het
Tnrc18 A T 5: 142,772,313 probably benign Het
Zfp442 T C 2: 150,409,791 probably null Het
Other mutations in Arl4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02335:Arl4d APN 11 101666929 missense possibly damaging 0.76
R1624:Arl4d UTSW 11 101667016 missense possibly damaging 0.94
R1793:Arl4d UTSW 11 101666728 missense probably benign 0.00
R1858:Arl4d UTSW 11 101666752 missense probably damaging 0.99
R2419:Arl4d UTSW 11 101666888 missense probably damaging 0.99
R4571:Arl4d UTSW 11 101667143 missense possibly damaging 0.88
R5919:Arl4d UTSW 11 101667136 missense probably benign 0.08
R6312:Arl4d UTSW 11 101667253 makesense probably null
R7454:Arl4d UTSW 11 101666660 missense probably benign 0.08
Posted On2015-04-16