Incidental Mutation 'R0471:Ap1g1'
ID 46763
Institutional Source Beutler Lab
Gene Symbol Ap1g1
Ensembl Gene ENSMUSG00000031731
Gene Name adaptor protein complex AP-1, gamma 1 subunit
Synonyms D8Ertd374e, gamma-adaptin, Adtg
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110505215-110590842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110580275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 576 (M576K)
Ref Sequence ENSEMBL: ENSMUSP00000034171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000093157]
AlphaFold P22892
PDB Structure GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1 [X-RAY DIFFRACTION]
GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1, L762E MUTANT [X-RAY DIFFRACTION]
GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1 A753D MUTANT [X-RAY DIFFRACTION]
AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
On the Routine Use of Soft X-Rays in Macromolecular Crystallography, Part III- The Optimal Data Collection Wavelength [X-RAY DIFFRACTION]
Crystal structure of computationally redesigned gamma-adaptin appendage domain forming a symmetric homodimer [X-RAY DIFFRACTION]
Structural basis for recruitment and activation of the AP-1 clathrin adaptor complex by Arf1 [X-RAY DIFFRACTION]
Crystal structure of the human BST2 cytoplasmic domain and the HIV-1 Vpu cytoplasmic domain bound to the clathrin adaptor protein complex 1 (AP1) core [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034171
AA Change: M576K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: M576K

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
AA Change: M579K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: M579K

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: ENSMUST00000172892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173476
Meta Mutation Damage Score 0.5571 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A probably 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
IGL02248:Ap1g1 APN 8 110,590,065 (GRCm39) utr 3 prime 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
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
Predicted Primers PCR Primer
(F):5'- GCTGTGTTCCCACACCTCCAGTAA -3'
(R):5'- tgcctctgcctccATCTGACTCAA -3'

Sequencing Primer
(F):5'- GAAACTCTGTTTTGATCATCTTCAC -3'
(R):5'- tccATCTGACTCAATACGTTTATTTC -3'
Posted On 2013-06-11