Incidental Mutation 'IGL02335:Arl4d'
ID 289699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl4d
Ensembl Gene ENSMUSG00000034936
Gene Name ADP-ribosylation factor-like 4D
Synonyms Arf4l, Arfl4, Arl5, 1110036H21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02335
Quality Score
Chromosome 11
Chromosomal Location 101665541-101667832 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101666929 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000035918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039388]
AlphaFold Q99PE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000039388
AA Change: T94A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035918
Gene: ENSMUSG00000034936
AA Change: T94A

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,620,213 (GRCm38) T142I probably benign Het
Aadacl2fm2 G A 3: 59,743,605 (GRCm38) M49I probably benign Het
Acaca A G 11: 84,214,258 (GRCm38) T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 (GRCm38) D397G probably damaging Het
Ank1 C T 8: 23,135,638 (GRCm38) T1597M possibly damaging Het
Cd22 A G 7: 30,876,134 (GRCm38) I161T probably damaging Het
Clcn7 C T 17: 25,146,847 (GRCm38) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm38) N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 (GRCm38) probably benign Het
Col6a6 C T 9: 105,784,101 (GRCm38) V270M probably damaging Het
Cox8b C A 7: 140,899,077 (GRCm38) G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 (GRCm38) D275V probably benign Het
Cubn T A 2: 13,427,834 (GRCm38) probably null Het
Dctn2 T C 10: 127,275,821 (GRCm38) probably benign Het
Dnm1l A G 16: 16,342,740 (GRCm38) probably benign Het
Dpp4 T C 2: 62,334,644 (GRCm38) E687G probably benign Het
Fbxw20 T C 9: 109,223,309 (GRCm38) K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 (GRCm38) W181* probably null Het
G2e3 T A 12: 51,369,158 (GRCm38) M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 (GRCm38) Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 (GRCm38) I572M probably benign Het
Gpatch2l T A 12: 86,256,937 (GRCm38) probably benign Het
Kcnq4 A G 4: 120,715,854 (GRCm38) L250P probably damaging Het
Lamc2 A T 1: 153,166,216 (GRCm38) N57K probably benign Het
Lingo1 A G 9: 56,620,081 (GRCm38) L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 (GRCm38) N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 (GRCm38) L545S probably damaging Het
Nup188 T A 2: 30,323,636 (GRCm38) probably null Het
Or10q1 A G 19: 13,749,934 (GRCm38) D276G probably benign Het
Or11a4 A G 17: 37,225,326 (GRCm38) N67S probably damaging Het
Or5b94 T C 19: 12,674,238 (GRCm38) I11T probably damaging Het
Pls1 A T 9: 95,784,183 (GRCm38) N138K probably benign Het
Prkch C A 12: 73,702,512 (GRCm38) N345K probably benign Het
Reps1 T C 10: 18,056,117 (GRCm38) probably null Het
Rrp7a T C 15: 83,122,691 (GRCm38) E15G probably benign Het
Scart2 A T 7: 140,296,540 (GRCm38) N526Y probably damaging Het
Scn1a T A 2: 66,277,661 (GRCm38) T1557S possibly damaging Het
Smtn T C 11: 3,526,215 (GRCm38) E602G probably damaging Het
Syvn1 T C 19: 6,050,093 (GRCm38) probably null Het
Tbxas1 A G 6: 39,023,080 (GRCm38) D267G probably damaging Het
Topbp1 A G 9: 103,328,523 (GRCm38) N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 (GRCm38) S180R probably damaging Het
Zfp345 T A 2: 150,474,543 (GRCm38) E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 (GRCm38) Q1144* probably null Het
Zfp936 T A 7: 43,187,267 (GRCm38) L34Q probably damaging Het
Other mutations in Arl4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02566:Arl4d APN 11 101,667,154 (GRCm38) missense probably damaging 0.98
R1624:Arl4d UTSW 11 101,667,016 (GRCm38) missense possibly damaging 0.94
R1793:Arl4d UTSW 11 101,666,728 (GRCm38) missense probably benign 0.00
R1858:Arl4d UTSW 11 101,666,752 (GRCm38) missense probably damaging 0.99
R2419:Arl4d UTSW 11 101,666,888 (GRCm38) missense probably damaging 0.99
R4571:Arl4d UTSW 11 101,667,143 (GRCm38) missense possibly damaging 0.88
R5919:Arl4d UTSW 11 101,667,136 (GRCm38) missense probably benign 0.08
R6312:Arl4d UTSW 11 101,667,253 (GRCm38) makesense probably null
R7454:Arl4d UTSW 11 101,666,660 (GRCm38) missense probably benign 0.08
R8898:Arl4d UTSW 11 101,667,001 (GRCm38) missense probably damaging 1.00
R8927:Arl4d UTSW 11 101,667,066 (GRCm38) missense possibly damaging 0.54
R8928:Arl4d UTSW 11 101,667,066 (GRCm38) missense possibly damaging 0.54
R9116:Arl4d UTSW 11 101,666,794 (GRCm38) missense possibly damaging 0.94
R9571:Arl4d UTSW 11 101,667,206 (GRCm38) missense possibly damaging 0.53
Posted On 2015-04-16