Incidental Mutation 'IGL02248:Ap1g1'
ID 286279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1g1
Ensembl Gene ENSMUSG00000031731
Gene Name adaptor protein complex AP-1, gamma 1 subunit
Synonyms D8Ertd374e, gamma-adaptin, Adtg
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02248
Quality Score
Status
Chromosome 8
Chromosomal Location 110505215-110590842 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 110590065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000093157] [ENSMUST00000179104]
AlphaFold P22892
Predicted Effect probably benign
Transcript: ENSMUST00000034171
SMART Domains Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Adaptin_N 23 574 7.8e-157 PFAM
low complexity region 626 636 N/A INTRINSIC
low complexity region 653 667 N/A INTRINSIC
low complexity region 668 676 N/A INTRINSIC
Alpha_adaptinC2 699 817 6.37e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093157
SMART Domains Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Adaptin_N 23 577 1.1e-155 PFAM
low complexity region 629 639 N/A INTRINSIC
low complexity region 656 670 N/A INTRINSIC
low complexity region 671 679 N/A INTRINSIC
Alpha_adaptinC2 702 820 6.37e-46 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173980
Predicted Effect unknown
Transcript: ENSMUST00000179104
AA Change: T47A
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 A T 4: 153,516,568 (GRCm39) S258T possibly damaging Het
B4galnt4 T C 7: 140,647,721 (GRCm39) probably benign Het
Bltp1 T C 3: 37,023,439 (GRCm39) probably null Het
Btnl9 T C 11: 49,071,625 (GRCm39) D66G probably benign Het
Casp1 T A 9: 5,299,452 (GRCm39) H60Q probably benign Het
Clec4n T G 6: 123,207,527 (GRCm39) S30R probably damaging Het
Col22a1 A G 15: 71,671,297 (GRCm39) L1021P unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fbxw7 A G 3: 84,810,940 (GRCm39) N22D possibly damaging Het
Frrs1l T A 4: 56,968,272 (GRCm39) N167Y probably damaging Het
Fsip2 T A 2: 82,813,116 (GRCm39) I3145K possibly damaging Het
Gcc1 G T 6: 28,418,513 (GRCm39) R607S probably damaging Het
Gm14443 A T 2: 175,012,107 (GRCm39) I113K probably benign Het
Ica1 T C 6: 8,758,387 (GRCm39) probably benign Het
Igkv4-69 T A 6: 69,261,305 (GRCm39) probably benign Het
Igkv9-120 G T 6: 68,027,221 (GRCm39) C45F probably damaging Het
Lrp2 T C 2: 69,313,152 (GRCm39) Y2483C probably damaging Het
Lrpprc A G 17: 85,078,895 (GRCm39) L273S probably damaging Het
Myh9 A T 15: 77,670,814 (GRCm39) L476Q probably damaging Het
Nab2 T C 10: 127,499,109 (GRCm39) I390V probably benign Het
Notch4 A T 17: 34,806,172 (GRCm39) D1756V probably damaging Het
Nup54 T C 5: 92,576,188 (GRCm39) probably null Het
Or14c41 T A 7: 86,235,312 (GRCm39) Y276* probably null Het
Or8k38 A T 2: 86,488,061 (GRCm39) V247E probably damaging Het
Reln T C 5: 22,115,990 (GRCm39) Y3006C probably damaging Het
Rpe65 T A 3: 159,330,342 (GRCm39) L503Q probably damaging Het
Serinc5 A G 13: 92,842,648 (GRCm39) D366G probably damaging Het
Slain1 A G 14: 103,923,213 (GRCm39) D102G probably damaging Het
Smo A T 6: 29,757,291 (GRCm39) I469F possibly damaging Het
Tomm70a T A 16: 56,958,465 (GRCm39) S273T probably benign Het
Trak1 G T 9: 121,275,860 (GRCm39) V281L probably damaging Het
Trib2 T C 12: 15,843,967 (GRCm39) N225S possibly damaging Het
Vmn2r23 A T 6: 123,718,703 (GRCm39) K685N probably damaging Het
Zcchc4 T A 5: 52,953,418 (GRCm39) H142Q probably damaging Het
Zfp521 T C 18: 13,977,303 (GRCm39) I1037V possibly damaging Het
Other mutations in Ap1g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Ap1g1 APN 8 110,559,414 (GRCm39) missense possibly damaging 0.85
IGL01907:Ap1g1 APN 8 110,569,975 (GRCm39) splice site probably benign
IGL02548:Ap1g1 APN 8 110,576,254 (GRCm39) missense probably damaging 1.00
Collapse UTSW 8 110,554,968 (GRCm39) critical splice donor site probably null
Deflate UTSW 8 110,577,764 (GRCm39) critical splice donor site probably null
depress UTSW 8 110,565,552 (GRCm39) missense probably damaging 1.00
R0158:Ap1g1 UTSW 8 110,582,267 (GRCm39) missense probably benign 0.00
R0226:Ap1g1 UTSW 8 110,581,694 (GRCm39) missense probably benign 0.39
R0254:Ap1g1 UTSW 8 110,529,749 (GRCm39) missense probably benign 0.01
R0315:Ap1g1 UTSW 8 110,545,667 (GRCm39) missense probably benign
R0380:Ap1g1 UTSW 8 110,529,796 (GRCm39) splice site probably benign
R0471:Ap1g1 UTSW 8 110,580,275 (GRCm39) missense possibly damaging 0.90
R0508:Ap1g1 UTSW 8 110,564,364 (GRCm39) splice site probably benign
R0837:Ap1g1 UTSW 8 110,577,697 (GRCm39) missense probably damaging 1.00
R1025:Ap1g1 UTSW 8 110,545,571 (GRCm39) missense probably benign 0.24
R1700:Ap1g1 UTSW 8 110,580,244 (GRCm39) missense probably damaging 1.00
R1759:Ap1g1 UTSW 8 110,559,853 (GRCm39) missense probably damaging 1.00
R1809:Ap1g1 UTSW 8 110,559,814 (GRCm39) splice site probably benign
R2161:Ap1g1 UTSW 8 110,570,986 (GRCm39) missense probably damaging 1.00
R3428:Ap1g1 UTSW 8 110,570,080 (GRCm39) missense probably damaging 1.00
R3772:Ap1g1 UTSW 8 110,564,418 (GRCm39) missense probably damaging 1.00
R3897:Ap1g1 UTSW 8 110,581,631 (GRCm39) missense probably damaging 0.97
R4244:Ap1g1 UTSW 8 110,560,122 (GRCm39) missense probably benign 0.04
R4714:Ap1g1 UTSW 8 110,556,252 (GRCm39) missense probably damaging 0.98
R4736:Ap1g1 UTSW 8 110,581,714 (GRCm39) missense possibly damaging 0.93
R5173:Ap1g1 UTSW 8 110,577,764 (GRCm39) critical splice donor site probably null
R5185:Ap1g1 UTSW 8 110,589,958 (GRCm39) utr 3 prime probably benign
R5435:Ap1g1 UTSW 8 110,565,552 (GRCm39) missense probably damaging 1.00
R5685:Ap1g1 UTSW 8 110,564,415 (GRCm39) missense probably damaging 0.99
R5824:Ap1g1 UTSW 8 110,565,544 (GRCm39) splice site probably null
R5867:Ap1g1 UTSW 8 110,545,614 (GRCm39) missense probably damaging 1.00
R6339:Ap1g1 UTSW 8 110,571,000 (GRCm39) missense possibly damaging 0.85
R6978:Ap1g1 UTSW 8 110,554,968 (GRCm39) critical splice donor site probably null
R7440:Ap1g1 UTSW 8 110,529,356 (GRCm39) splice site probably null
R7532:Ap1g1 UTSW 8 110,586,796 (GRCm39) missense probably damaging 1.00
R7598:Ap1g1 UTSW 8 110,576,308 (GRCm39) missense probably benign 0.01
R7978:Ap1g1 UTSW 8 110,564,399 (GRCm39) nonsense probably null
R8022:Ap1g1 UTSW 8 110,559,367 (GRCm39) missense possibly damaging 0.90
R8743:Ap1g1 UTSW 8 110,564,423 (GRCm39) missense probably damaging 0.99
R8947:Ap1g1 UTSW 8 110,589,964 (GRCm39) utr 3 prime probably benign
R9002:Ap1g1 UTSW 8 110,581,738 (GRCm39) missense probably benign
R9225:Ap1g1 UTSW 8 110,585,509 (GRCm39) missense probably benign 0.27
R9512:Ap1g1 UTSW 8 110,529,687 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16