Incidental Mutation 'IGL01806:Ap5m1'
ID155684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap5m1
Ensembl Gene ENSMUSG00000036291
Gene Nameadaptor-related protein complex 5, mu 1 subunit
SynonymsMudeng, 4932432K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01806
Quality Score
Status
Chromosome14
Chromosomal Location49066097-49094234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49080340 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 351 (F351L)
Ref Sequence ENSEMBL: ENSMUSP00000153761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037473] [ENSMUST00000227410] [ENSMUST00000227431] [ENSMUST00000227608] [ENSMUST00000228238]
Predicted Effect probably damaging
Transcript: ENSMUST00000037473
AA Change: F351L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046536
Gene: ENSMUSG00000036291
AA Change: F351L

DomainStartEndE-ValueType
low complexity region 51 68 N/A INTRINSIC
Pfam:Adap_comp_sub 196 476 3.2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226695
Predicted Effect probably benign
Transcript: ENSMUST00000227066
Predicted Effect probably benign
Transcript: ENSMUST00000227410
Predicted Effect probably damaging
Transcript: ENSMUST00000227431
AA Change: F351L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227608
Predicted Effect unknown
Transcript: ENSMUST00000227991
AA Change: F102L
Predicted Effect probably benign
Transcript: ENSMUST00000228238
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T C 8: 95,012,931 S670P probably damaging Het
Cacnb2 A G 2: 14,614,268 Y38C probably damaging Het
Ccdc28a C T 10: 18,219,514 A151T possibly damaging Het
Cgnl1 T C 9: 71,650,322 E976G probably damaging Het
Cyp2c39 A G 19: 39,536,820 Y189C probably damaging Het
Dbt T C 3: 116,533,305 V101A probably damaging Het
Evc A G 5: 37,320,234 probably null Het
Fastkd5 A G 2: 130,615,612 Y353H probably benign Het
Gm6408 G A 5: 146,482,082 R30H probably damaging Het
Lhx8 A G 3: 154,322,355 S156P probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mtrr A T 13: 68,580,600 V27E possibly damaging Het
Myh14 A G 7: 44,657,939 V226A probably benign Het
Nek1 T C 8: 61,124,212 S1076P possibly damaging Het
Olfr522 G T 7: 140,162,928 N7K probably benign Het
Olfr619 C T 7: 103,604,341 A229V probably benign Het
Pcdhb7 A G 18: 37,342,495 D228G possibly damaging Het
Pias3 T C 3: 96,703,757 S414P probably benign Het
Plcd4 G A 1: 74,552,033 V196I probably benign Het
Proca1 A G 11: 78,204,911 D123G probably damaging Het
Ptpn3 A G 4: 57,254,915 probably null Het
Ptprq C A 10: 107,699,608 R432L probably damaging Het
Rasgrp4 A G 7: 29,139,050 K108E possibly damaging Het
Siglecg A G 7: 43,411,464 probably null Het
Srpr A G 9: 35,214,905 T465A possibly damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Zeb1 G A 18: 5,767,867 V793M possibly damaging Het
Other mutations in Ap5m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Ap5m1 APN 14 49073790 missense probably damaging 1.00
IGL02011:Ap5m1 APN 14 49081135 unclassified probably benign
IGL02165:Ap5m1 APN 14 49078728 missense possibly damaging 0.94
IGL02203:Ap5m1 APN 14 49080258 missense probably damaging 1.00
IGL02950:Ap5m1 APN 14 49073935 missense probably benign 0.44
IGL03123:Ap5m1 APN 14 49073761 missense probably damaging 1.00
IGL03368:Ap5m1 APN 14 49081136 unclassified probably benign
R1688:Ap5m1 UTSW 14 49080834 critical splice acceptor site probably null
R2113:Ap5m1 UTSW 14 49086248 missense probably damaging 1.00
R2184:Ap5m1 UTSW 14 49086295 missense probably damaging 1.00
R2220:Ap5m1 UTSW 14 49081095 missense probably damaging 1.00
R2971:Ap5m1 UTSW 14 49083882 nonsense probably null
R3425:Ap5m1 UTSW 14 49073683 missense probably damaging 0.99
R4506:Ap5m1 UTSW 14 49073761 missense probably damaging 1.00
R4679:Ap5m1 UTSW 14 49078828 missense probably benign 0.00
R4799:Ap5m1 UTSW 14 49081070 missense probably benign 0.08
R6365:Ap5m1 UTSW 14 49078828 missense probably benign 0.00
R6834:Ap5m1 UTSW 14 49073737 missense probably damaging 0.99
R7115:Ap5m1 UTSW 14 49086270 nonsense probably null
R7224:Ap5m1 UTSW 14 49080927 missense unknown
R7383:Ap5m1 UTSW 14 49074196 missense possibly damaging 0.77
R7539:Ap5m1 UTSW 14 49073557 missense probably damaging 1.00
R7866:Ap5m1 UTSW 14 49073761 missense probably damaging 1.00
R7897:Ap5m1 UTSW 14 49073775 missense probably benign 0.11
R8853:Ap5m1 UTSW 14 49073880 missense possibly damaging 0.79
Posted On2014-02-04