Incidental Mutation 'IGL01806:Ap5m1'
ID 155684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap5m1
Ensembl Gene ENSMUSG00000036291
Gene Name adaptor-related protein complex 5, mu 1 subunit
Synonyms Mudeng, 4932432K03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01806
Quality Score
Status
Chromosome 14
Chromosomal Location 49303869-49331681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49317797 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 95,739,559 (GRCm39) S670P probably damaging Het
Cacnb2 A G 2: 14,619,079 (GRCm39) Y38C probably damaging Het
Ccdc28a C T 10: 18,095,262 (GRCm39) A151T possibly damaging Het
Cgnl1 T C 9: 71,557,604 (GRCm39) E976G probably damaging Het
Cyp2c39 A G 19: 39,525,264 (GRCm39) Y189C probably damaging Het
Dbt T C 3: 116,326,954 (GRCm39) V101A probably damaging Het
Evc A G 5: 37,477,578 (GRCm39) probably null Het
Fastkd5 A G 2: 130,457,532 (GRCm39) Y353H probably benign Het
Gm6408 G A 5: 146,418,892 (GRCm39) R30H probably damaging Het
Lhx8 A G 3: 154,027,992 (GRCm39) S156P probably damaging Het
Mki67 T C 7: 135,300,686 (GRCm39) I1449M probably damaging Het
Mtrr A T 13: 68,728,719 (GRCm39) V27E possibly damaging Het
Myh14 A G 7: 44,307,363 (GRCm39) V226A probably benign Het
Nek1 T C 8: 61,577,246 (GRCm39) S1076P possibly damaging Het
Or52z14 C T 7: 103,253,548 (GRCm39) A229V probably benign Het
Or6ae1 G T 7: 139,742,841 (GRCm39) N7K probably benign Het
Pcdhb7 A G 18: 37,475,548 (GRCm39) D228G possibly damaging Het
Pias3 T C 3: 96,611,073 (GRCm39) S414P probably benign Het
Plcd4 G A 1: 74,591,192 (GRCm39) V196I probably benign Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Ptpn3 A G 4: 57,254,915 (GRCm39) probably null Het
Ptprq C A 10: 107,535,469 (GRCm39) R432L probably damaging Het
Rasgrp4 A G 7: 28,838,475 (GRCm39) K108E possibly damaging Het
Siglecg A G 7: 43,060,888 (GRCm39) probably null Het
Srpra A G 9: 35,126,201 (GRCm39) T465A possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Zeb1 G A 18: 5,767,867 (GRCm39) V793M possibly damaging Het
Other mutations in Ap5m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Ap5m1 APN 14 49,311,247 (GRCm39) missense probably damaging 1.00
IGL02011:Ap5m1 APN 14 49,318,592 (GRCm39) unclassified probably benign
IGL02165:Ap5m1 APN 14 49,316,185 (GRCm39) missense possibly damaging 0.94
IGL02203:Ap5m1 APN 14 49,317,715 (GRCm39) missense probably damaging 1.00
IGL02950:Ap5m1 APN 14 49,311,392 (GRCm39) missense probably benign 0.44
IGL03123:Ap5m1 APN 14 49,311,218 (GRCm39) missense probably damaging 1.00
IGL03368:Ap5m1 APN 14 49,318,593 (GRCm39) unclassified probably benign
R1688:Ap5m1 UTSW 14 49,318,291 (GRCm39) critical splice acceptor site probably null
R2113:Ap5m1 UTSW 14 49,323,705 (GRCm39) missense probably damaging 1.00
R2184:Ap5m1 UTSW 14 49,323,752 (GRCm39) missense probably damaging 1.00
R2220:Ap5m1 UTSW 14 49,318,552 (GRCm39) missense probably damaging 1.00
R2971:Ap5m1 UTSW 14 49,321,339 (GRCm39) nonsense probably null
R3425:Ap5m1 UTSW 14 49,311,140 (GRCm39) missense probably damaging 0.99
R4506:Ap5m1 UTSW 14 49,311,218 (GRCm39) missense probably damaging 1.00
R4679:Ap5m1 UTSW 14 49,316,285 (GRCm39) missense probably benign 0.00
R4799:Ap5m1 UTSW 14 49,318,527 (GRCm39) missense probably benign 0.08
R6365:Ap5m1 UTSW 14 49,316,285 (GRCm39) missense probably benign 0.00
R6834:Ap5m1 UTSW 14 49,311,194 (GRCm39) missense probably damaging 0.99
R7115:Ap5m1 UTSW 14 49,323,727 (GRCm39) nonsense probably null
R7224:Ap5m1 UTSW 14 49,318,384 (GRCm39) missense unknown
R7383:Ap5m1 UTSW 14 49,311,653 (GRCm39) missense possibly damaging 0.77
R7539:Ap5m1 UTSW 14 49,311,014 (GRCm39) missense probably damaging 1.00
R7866:Ap5m1 UTSW 14 49,311,218 (GRCm39) missense probably damaging 1.00
R7897:Ap5m1 UTSW 14 49,311,232 (GRCm39) missense probably benign 0.11
R8853:Ap5m1 UTSW 14 49,311,337 (GRCm39) missense possibly damaging 0.79
R9236:Ap5m1 UTSW 14 49,311,064 (GRCm39) missense probably benign 0.00
R9545:Ap5m1 UTSW 14 49,311,271 (GRCm39) missense possibly damaging 0.76
R9750:Ap5m1 UTSW 14 49,317,756 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04