Incidental Mutation 'R6636:Ap4m1'
ID 525452
Institutional Source Beutler Lab
Gene Symbol Ap4m1
Ensembl Gene ENSMUSG00000019518
Gene Name adaptor-related protein complex AP-4, mu 1
Synonyms 4930443L05Rik
MMRRC Submission 044757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6636 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 138170283-138178691 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 138170437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019662] [ENSMUST00000139983] [ENSMUST00000151318] [ENSMUST00000153867] [ENSMUST00000148879] [ENSMUST00000155902] [ENSMUST00000147920] [ENSMUST00000148094] [ENSMUST00000143241]
AlphaFold Q9JKC7
Predicted Effect probably benign
Transcript: ENSMUST00000000505
SMART Domains Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 1e-41 BLAST
MCM 145 642 N/A SMART
AAA 373 526 2.9e-4 SMART
Blast:MCM 658 719 1e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000019662
SMART Domains Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 142 2e-49 SMART
Pfam:Adap_comp_sub 173 449 2.5e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139223
Predicted Effect probably benign
Transcript: ENSMUST00000139983
SMART Domains Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 5.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142254
Predicted Effect probably benign
Transcript: ENSMUST00000151318
SMART Domains Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 47 153 3.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142687
Predicted Effect probably benign
Transcript: ENSMUST00000153867
SMART Domains Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 9.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148879
SMART Domains Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 6e-44 BLAST
MCM 145 389 1.77e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155902
SMART Domains Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 5.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157031
Predicted Effect probably benign
Transcript: ENSMUST00000147920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155745
Predicted Effect probably benign
Transcript: ENSMUST00000148094
SMART Domains Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 1 25 4e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143241
SMART Domains Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 86 2e-25 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,659,251 (GRCm39) V513A probably damaging Het
Adgrl4 G A 3: 151,223,410 (GRCm39) W621* probably null Het
Atp6v1b2 T C 8: 69,554,026 (GRCm39) Y68H probably damaging Het
AY761185 T A 8: 21,434,556 (GRCm39) probably null Het
C3ar1 T C 6: 122,828,013 (GRCm39) D68G probably damaging Het
Cdh10 A T 15: 18,985,259 (GRCm39) I308F probably damaging Het
Coq8a A T 1: 180,006,552 (GRCm39) S112T probably benign Het
Dmgdh A T 13: 93,845,706 (GRCm39) E453D probably benign Het
Fryl C A 5: 73,290,655 (GRCm39) R83L probably benign Het
Gm4861 C T 3: 137,256,760 (GRCm39) probably null Het
Gnai1 T C 5: 18,478,472 (GRCm39) D231G probably damaging Het
Hfe C G 13: 23,890,778 (GRCm39) E120D possibly damaging Het
Hfe T C 13: 23,890,779 (GRCm39) E120G possibly damaging Het
Hgd A G 16: 37,435,736 (GRCm39) N149S possibly damaging Het
Kcnb1 T C 2: 166,947,774 (GRCm39) D358G probably damaging Het
Lama2 C A 10: 27,000,564 (GRCm39) V1653L probably benign Het
Lamc1 A T 1: 153,117,721 (GRCm39) I947N possibly damaging Het
Lamp3 A G 16: 19,519,983 (GRCm39) F67L probably benign Het
Ltbp2 T C 12: 84,922,612 (GRCm39) I132V probably benign Het
Muc4 C T 16: 32,575,255 (GRCm39) P1280L probably benign Het
Muc5ac T C 7: 141,372,342 (GRCm39) Y2659H possibly damaging Het
Nmbr T C 10: 14,645,978 (GRCm39) S168P probably benign Het
Nsl1 A G 1: 190,807,324 (GRCm39) T168A probably benign Het
Or2g7 G A 17: 38,378,115 (GRCm39) D18N probably damaging Het
Or4a27 T C 2: 88,559,185 (GRCm39) I253V probably benign Het
Or5b113 T C 19: 13,342,589 (GRCm39) V199A probably benign Het
Or8s5 A G 15: 98,238,831 (GRCm39) F13S probably benign Het
Pde1c A C 6: 56,157,087 (GRCm39) V191G probably damaging Het
Proc T A 18: 32,256,813 (GRCm39) I285F probably benign Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Spa17 A T 9: 37,523,270 (GRCm39) S6T probably benign Het
Spp1 T C 5: 104,588,396 (GRCm39) V267A possibly damaging Het
Stk17b A T 1: 53,800,247 (GRCm39) Y244N probably damaging Het
Tal1 A G 4: 114,925,789 (GRCm39) N286S probably damaging Het
Tgm7 T A 2: 120,931,571 (GRCm39) R197S probably damaging Het
Tmcc3 T A 10: 94,414,286 (GRCm39) V27E probably benign Het
Topaz1 A T 9: 122,578,851 (GRCm39) Q587L probably benign Het
Trim33 C T 3: 103,261,035 (GRCm39) A1061V probably damaging Het
Ttll1 C G 15: 83,384,147 (GRCm39) W160S probably damaging Het
Utp25 A T 1: 192,796,075 (GRCm39) F197I probably damaging Het
Wnt7a A G 6: 91,371,540 (GRCm39) Y141H probably benign Het
Other mutations in Ap4m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Ap4m1 APN 5 138,171,106 (GRCm39) missense probably damaging 0.98
IGL03087:Ap4m1 APN 5 138,173,066 (GRCm39) missense probably benign 0.01
R0227:Ap4m1 UTSW 5 138,174,538 (GRCm39) unclassified probably benign
R0394:Ap4m1 UTSW 5 138,170,465 (GRCm39) missense probably benign 0.32
R0639:Ap4m1 UTSW 5 138,174,501 (GRCm39) missense probably benign 0.01
R4226:Ap4m1 UTSW 5 138,171,079 (GRCm39) nonsense probably null
R4357:Ap4m1 UTSW 5 138,171,311 (GRCm39) missense probably damaging 1.00
R5544:Ap4m1 UTSW 5 138,176,632 (GRCm39) missense probably benign 0.15
R5585:Ap4m1 UTSW 5 138,170,502 (GRCm39) missense probably damaging 1.00
R5631:Ap4m1 UTSW 5 138,173,051 (GRCm39) makesense probably null
R5691:Ap4m1 UTSW 5 138,170,653 (GRCm39) missense probably damaging 1.00
R6504:Ap4m1 UTSW 5 138,176,358 (GRCm39) missense probably benign
R6637:Ap4m1 UTSW 5 138,170,437 (GRCm39) unclassified probably benign
R7326:Ap4m1 UTSW 5 138,173,281 (GRCm39) missense probably damaging 0.96
R7730:Ap4m1 UTSW 5 138,171,077 (GRCm39) missense probably damaging 0.99
R7814:Ap4m1 UTSW 5 138,173,079 (GRCm39) missense probably benign 0.05
R8836:Ap4m1 UTSW 5 138,173,061 (GRCm39) missense probably damaging 0.99
R8859:Ap4m1 UTSW 5 138,174,185 (GRCm39) missense possibly damaging 0.93
R9119:Ap4m1 UTSW 5 138,174,303 (GRCm39) unclassified probably benign
R9233:Ap4m1 UTSW 5 138,176,653 (GRCm39) nonsense probably null
R9368:Ap4m1 UTSW 5 138,175,445 (GRCm39) nonsense probably null
R9665:Ap4m1 UTSW 5 138,171,273 (GRCm39) missense probably benign 0.01
X0062:Ap4m1 UTSW 5 138,176,573 (GRCm39) splice site probably null
Predicted Primers
Posted On 2018-06-22