Incidental Mutation 'IGL01782:Aagab'
ID153960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aagab
Ensembl Gene ENSMUSG00000037257
Gene Namealpha- and gamma-adaptin binding protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01782
Quality Score
Status
Chromosome9
Chromosomal Location63602660-63644588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63616713 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000048595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041551] [ENSMUST00000213880]
Predicted Effect probably benign
Transcript: ENSMUST00000041551
AA Change: V34A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257
AA Change: V34A

DomainStartEndE-ValueType
Pfam:Adaptin_binding 155 295 3.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213880
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Ccdc62 T A 5: 123,954,576 N541K possibly damaging Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dtx2 C A 5: 136,010,127 Y13* probably null Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Odf4 A T 11: 68,926,633 H76Q probably damaging Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Otud4 T G 8: 79,673,011 F784V possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Pttg1ip T C 10: 77,581,929 probably null Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Aagab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Aagab APN 9 63639619 missense probably damaging 1.00
IGL01293:Aagab APN 9 63636469 missense probably benign
IGL02505:Aagab APN 9 63616814 missense probably damaging 0.99
IGL03085:Aagab APN 9 63639034 splice site probably benign
IGL03172:Aagab APN 9 63635394 intron probably benign
R0326:Aagab UTSW 9 63619162 missense probably damaging 0.96
R0879:Aagab UTSW 9 63617610 splice site probably benign
R2141:Aagab UTSW 9 63616675 splice site probably null
R2142:Aagab UTSW 9 63616675 splice site probably null
R3954:Aagab UTSW 9 63619160 missense probably damaging 0.99
R3956:Aagab UTSW 9 63619160 missense probably damaging 0.99
R4886:Aagab UTSW 9 63636456 missense possibly damaging 0.69
R6193:Aagab UTSW 9 63617513 missense possibly damaging 0.94
R7899:Aagab UTSW 9 63616850 missense probably benign 0.08
Posted On2014-02-04