Incidental Mutation 'R6003:Ap1m1'
ID 478464
Institutional Source Beutler Lab
Gene Symbol Ap1m1
Ensembl Gene ENSMUSG00000003033
Gene Name adaptor-related protein complex AP-1, mu subunit 1
Synonyms mu1A, Cltnm, Adtm1A, AP47, [m]1A
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 72993862-73011229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73003011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 93 (Y93C)
Ref Sequence ENSEMBL: ENSMUSP00000148530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003117] [ENSMUST00000126885] [ENSMUST00000145213] [ENSMUST00000212708] [ENSMUST00000212841] [ENSMUST00000212940]
AlphaFold P35585
Predicted Effect probably damaging
Transcript: ENSMUST00000003117
AA Change: Y85C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033
AA Change: Y85C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 4.6e-7 PFAM
Pfam:Adap_comp_sub 157 422 2.5e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126885
AA Change: Y59C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120435
Gene: ENSMUSG00000003033
AA Change: Y59C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 4 115 4.8e-7 PFAM
Pfam:Adap_comp_sub 131 181 6.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145213
AA Change: Y59C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138319
Gene: ENSMUSG00000003033
AA Change: Y59C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 3 107 7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156735
Predicted Effect probably benign
Transcript: ENSMUST00000212708
Predicted Effect probably damaging
Transcript: ENSMUST00000212841
AA Change: Y93C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212940
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E13.5. Homozygous embryos display hemorrhage of the ventricles and spinal canal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null Het
Other mutations in Ap1m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ap1m1 APN 8 73,009,599 (GRCm39) missense possibly damaging 0.53
IGL00795:Ap1m1 APN 8 73,007,353 (GRCm39) missense probably damaging 1.00
IGL02165:Ap1m1 APN 8 73,003,653 (GRCm39) missense probably benign 0.41
R0363:Ap1m1 UTSW 8 73,010,568 (GRCm39) unclassified probably benign
R0363:Ap1m1 UTSW 8 73,006,738 (GRCm39) missense probably benign 0.22
R1295:Ap1m1 UTSW 8 73,005,719 (GRCm39) splice site probably null
R1681:Ap1m1 UTSW 8 73,009,966 (GRCm39) missense possibly damaging 0.95
R1784:Ap1m1 UTSW 8 73,006,693 (GRCm39) missense probably benign 0.01
R1934:Ap1m1 UTSW 8 73,009,637 (GRCm39) missense probably damaging 1.00
R4549:Ap1m1 UTSW 8 72,994,064 (GRCm39) missense probably damaging 1.00
R4654:Ap1m1 UTSW 8 73,006,717 (GRCm39) missense possibly damaging 0.94
R7048:Ap1m1 UTSW 8 73,003,642 (GRCm39) missense probably damaging 1.00
R8253:Ap1m1 UTSW 8 73,006,730 (GRCm39) missense probably damaging 1.00
R9112:Ap1m1 UTSW 8 72,994,066 (GRCm39) nonsense probably null
R9134:Ap1m1 UTSW 8 72,993,913 (GRCm39) unclassified probably benign
R9641:Ap1m1 UTSW 8 73,003,606 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTAATCTTGGGCCCAGTG -3'
(R):5'- GTGGGAAAGACCAGCTCTAG -3'

Sequencing Primer
(F):5'- AATCTTGGGCCCAGTGTACCAC -3'
(R):5'- GCTCTAGGGAAAAATGTGCCCC -3'
Posted On 2017-06-26