Incidental Mutation 'R8022:Ap1g1'
ID 617458
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 067461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110505215-110590842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110559367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 221 (R221S)
Ref Sequence ENSEMBL: ENSMUSP00000034171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000093157]
AlphaFold P22892
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: R221S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: R221S

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 possibly damaging
Transcript: ENSMUST00000093157
AA Change: R224S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: R224S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,361,915 (GRCm39) T1386S probably benign Het
AI661453 T G 17: 47,777,161 (GRCm39) S296A unknown Het
Ambp G T 4: 63,062,434 (GRCm39) N268K probably damaging Het
Ankrd11 T C 8: 123,614,332 (GRCm39) K2503E probably damaging Het
Ap5z1 T C 5: 142,455,904 (GRCm39) probably null Het
Aspa A C 11: 73,213,032 (GRCm39) N103K probably benign Het
Bend7 G A 2: 4,757,590 (GRCm39) V211I probably benign Het
Bsn A G 9: 107,991,603 (GRCm39) M1383T probably benign Het
Cad G T 5: 31,226,150 (GRCm39) V1117F probably damaging Het
Cdh2 A G 18: 16,723,358 (GRCm39) L856S probably damaging Het
Cdh20 T A 1: 109,988,838 (GRCm39) S247T probably benign Het
Ces1b A G 8: 93,795,943 (GRCm39) probably null Het
Chd7 T A 4: 8,751,605 (GRCm39) V34E unknown Het
Clca3a2 A T 3: 144,511,527 (GRCm39) F623I probably damaging Het
Cope T G 8: 70,765,453 (GRCm39) M217R probably benign Het
Crim1 T A 17: 78,622,984 (GRCm39) I394N possibly damaging Het
Crnkl1 A T 2: 145,760,486 (GRCm39) I644N probably damaging Het
Cry1 G A 10: 84,982,266 (GRCm39) A360V probably damaging Het
Ctcfl A T 2: 172,960,559 (GRCm39) V8D probably benign Het
Cyp2d34 G A 15: 82,500,315 (GRCm39) Q475* probably null Het
Cyp39a1 T C 17: 44,057,468 (GRCm39) Y436H probably damaging Het
Cyp3a25 T A 5: 145,914,478 (GRCm39) Q484L probably benign Het
Dnah1 A G 14: 30,986,971 (GRCm39) F3607S probably damaging Het
Dnali1 T A 4: 124,959,323 (GRCm39) K23N possibly damaging Het
Ecel1 T C 1: 87,081,052 (GRCm39) I313V probably benign Het
Ehhadh C A 16: 21,596,570 (GRCm39) A53S probably benign Het
Epcam T C 17: 87,953,736 (GRCm39) S277P probably benign Het
Fbxo10 T C 4: 45,062,062 (GRCm39) I155V possibly damaging Het
Fgd6 A T 10: 93,880,206 (GRCm39) K353N possibly damaging Het
Glce A T 9: 61,967,873 (GRCm39) M426K probably benign Het
Glmp A T 3: 88,233,827 (GRCm39) N228I probably damaging Het
Gm4787 C A 12: 81,424,494 (GRCm39) V555F possibly damaging Het
Gm5114 T A 7: 39,058,800 (GRCm39) H273L probably benign Het
Gzmg T A 14: 56,394,903 (GRCm39) T122S probably benign Het
Hace1 T C 10: 45,577,066 (GRCm39) V820A probably damaging Het
Igf2r T A 17: 12,937,682 (GRCm39) D535V probably damaging Het
Kcnd3 A G 3: 105,366,189 (GRCm39) M20V probably benign Het
Kcnn3 T G 3: 89,517,010 (GRCm39) I473S possibly damaging Het
Klhl35 T A 7: 99,122,446 (GRCm39) F94Y unknown Het
Kmt2c C T 5: 25,486,678 (GRCm39) V4712I possibly damaging Het
Lepr A G 4: 101,639,754 (GRCm39) E740G probably benign Het
Lmod3 T C 6: 97,225,260 (GRCm39) D187G probably benign Het
Lsm3 C T 6: 91,496,543 (GRCm39) H49Y probably benign Het
Lypd10 T A 7: 24,413,599 (GRCm39) I205N possibly damaging Het
Magi1 T C 6: 93,674,346 (GRCm39) S962G probably damaging Het
Man2b1 G A 8: 85,822,242 (GRCm39) R782Q probably damaging Het
Mical2 A T 7: 111,902,974 (GRCm39) K148N probably damaging Het
Nbeal1 C T 1: 60,299,431 (GRCm39) Q1256* probably null Het
Ncam1 G T 9: 49,476,192 (GRCm39) A299D possibly damaging Het
Ncapg A G 5: 45,839,136 (GRCm39) D512G probably damaging Het
Nkiras2 A G 11: 100,515,113 (GRCm39) N28D probably benign Het
Nprl2 A C 9: 107,420,260 (GRCm39) K53T probably damaging Het
Nr4a3 T A 4: 48,051,510 (GRCm39) I88N probably damaging Het
Oas3 A G 5: 120,895,031 (GRCm39) I986T possibly damaging Het
Or6c76 A T 10: 129,612,654 (GRCm39) L305F possibly damaging Het
Pcsk1 A T 13: 75,247,412 (GRCm39) Y187F possibly damaging Het
Pgc A G 17: 48,039,701 (GRCm39) T32A probably benign Het
Ranbp2 A C 10: 58,321,683 (GRCm39) D2660A possibly damaging Het
Retreg1 A G 15: 25,843,565 (GRCm39) R46G Het
Rrbp1 C A 2: 143,798,712 (GRCm39) K1100N probably benign Het
Rsph10b A T 5: 143,904,050 (GRCm39) T676S probably benign Het
Setdb1 A T 3: 95,245,910 (GRCm39) F672I probably damaging Het
Setdb1 T A 3: 95,254,396 (GRCm39) D195V probably damaging Het
Slc12a8 A G 16: 33,445,456 (GRCm39) E450G probably benign Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc25a12 A T 2: 71,105,533 (GRCm39) V667E unknown Het
Slc39a3 T C 10: 80,867,111 (GRCm39) T212A probably benign Het
Slc45a1 C T 4: 150,722,766 (GRCm39) G373S possibly damaging Het
Snx11 G A 11: 96,663,680 (GRCm39) T53M probably damaging Het
Snx33 A G 9: 56,832,624 (GRCm39) F482L possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Stk32a C T 18: 43,448,166 (GRCm39) Q382* probably null Het
Sun3 C A 11: 8,973,376 (GRCm39) S167I probably damaging Het
Sycp2 A G 2: 177,996,855 (GRCm39) L1116P probably damaging Het
Thbs4 T G 13: 92,888,955 (GRCm39) T913P probably damaging Het
Trav8d-1 C T 14: 53,016,284 (GRCm39) Q57* probably null Het
Trio C G 15: 27,749,952 (GRCm39) V2250L probably benign Het
Unc119b A T 5: 115,265,102 (GRCm39) I204N probably damaging Het
Usp4 A G 9: 108,255,670 (GRCm39) E576G probably damaging Het
Uvssa T A 5: 33,566,848 (GRCm39) L515Q probably damaging Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Xpo6 G A 7: 125,768,426 (GRCm39) L94F probably benign Het
Zbtb11 A G 16: 55,826,383 (GRCm39) K804R probably damaging Het
Zfp616 A G 11: 73,974,894 (GRCm39) R479G probably benign Het
Zfp661 T C 2: 127,419,844 (GRCm39) T99A probably benign Het
Zfp839 A T 12: 110,821,532 (GRCm39) Q115H probably damaging Het
Zyg11a C T 4: 108,046,765 (GRCm39) probably null 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
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
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

Sequencing Primer
Posted On 2020-01-23