Incidental Mutation 'IGL01293:Aagab'
ID73005
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: 0.097) question?
Stock #IGL01293
Quality Score
Status
Chromosome9
Chromosomal Location63602660-63644588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63636469 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000048595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041551] [ENSMUST00000213880]
Predicted Effect probably benign
Transcript: ENSMUST00000041551
AA Change: V235A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257
AA Change: V235A

DomainStartEndE-ValueType
Pfam:Adaptin_binding 155 295 3.8e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213702
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Aagab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Aagab APN 9 63639619 missense probably damaging 1.00
IGL01782:Aagab APN 9 63616713 missense probably benign 0.00
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
Posted On2013-10-07