Incidental Mutation 'R4736:Ap1g1'
ID 359258
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 041963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110505215-110590842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110581714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 658 (D658N)
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: D658N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: D658N

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: D661N

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: D661N

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: ENSMUST00000173476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173980
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Aadat T C 8: 60,993,140 (GRCm39) V360A probably benign Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Gbe1 C T 16: 70,292,141 (GRCm39) A491V probably damaging Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Med25 G A 7: 44,541,712 (GRCm39) A26V probably damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Serpina1f T C 12: 103,659,805 (GRCm39) D159G probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L 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
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
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
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'- GCCGTCCTTGATGTTAAGTATTGAG -3'
(R):5'- GCCCTGCAGTTACTTCAAAC -3'

Sequencing Primer
(F):5'- TGTTGGGAGGAAATGACAT -3'
(R):5'- TGCAGTTACTTCAAACACAGGTC -3'
Posted On 2015-11-11