Incidental Mutation 'R5824:Ap1g1'
ID 450071
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 043216-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5824 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110505215-110590842 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 110565544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000034171] [ENSMUST00000034171] [ENSMUST00000034171] [ENSMUST00000093157] [ENSMUST00000093157] [ENSMUST00000093157] [ENSMUST00000093157] [ENSMUST00000093157]
AlphaFold P22892
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 probably null
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 probably null
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 probably null
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 probably null
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: ENSMUST00000104361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172892
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A T 13: 59,613,913 (GRCm39) H66Q probably damaging Het
Ap4b1 A T 3: 103,720,701 (GRCm39) I124F probably benign Het
Arhgap10 A T 8: 78,085,181 (GRCm39) Y462* probably null Het
Btnl10 G T 11: 58,814,266 (GRCm39) M315I probably benign Het
Cep295 A G 9: 15,236,952 (GRCm39) V1994A possibly damaging Het
Cherp G A 8: 73,216,102 (GRCm39) probably benign Het
Ckap5 G A 2: 91,389,481 (GRCm39) A318T probably benign Het
Cma1 T C 14: 56,179,182 (GRCm39) K238E possibly damaging Het
Cspg4b T A 13: 113,505,154 (GRCm39) H2094Q probably damaging Het
Ctif T C 18: 75,743,749 (GRCm39) D141G possibly damaging Het
Ctnna1 T C 18: 35,312,939 (GRCm39) S264P probably benign Het
Dnah12 G T 14: 26,492,475 (GRCm39) probably null Het
Dnah5 A G 15: 28,313,967 (GRCm39) T1928A probably benign Het
Etfdh G A 3: 79,517,252 (GRCm39) P379L probably damaging Het
Gfra3 T C 18: 34,844,264 (GRCm39) N92S probably damaging Het
Gpr161 C A 1: 165,138,560 (GRCm39) T382K possibly damaging Het
Gspt2 T C X: 93,680,071 (GRCm39) V70A possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kpna1 A G 16: 35,840,575 (GRCm39) D205G possibly damaging Het
Man2a2 T G 7: 80,002,780 (GRCm39) D1067A probably benign Het
Map3k4 G A 17: 12,448,526 (GRCm39) H1551Y probably damaging Het
Moxd1 A T 10: 24,162,995 (GRCm39) I486F probably damaging Het
Notch3 G T 17: 32,372,835 (GRCm39) R579S possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or6c65 T C 10: 129,604,250 (GRCm39) V295A probably damaging Het
Or8b4 A G 9: 37,830,861 (GRCm39) T308A probably benign Het
Pira13 T C 7: 3,827,753 (GRCm39) T135A probably damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Reg3b G A 6: 78,349,104 (GRCm39) V77I possibly damaging Het
Terb1 T C 8: 105,212,079 (GRCm39) T301A probably benign Het
Tmem260 G A 14: 48,742,785 (GRCm39) C540Y probably damaging Het
Tmprss15 A T 16: 78,831,201 (GRCm39) F385I probably damaging Het
Trbv12-2 G A 6: 41,095,774 (GRCm39) probably benign Het
Upk3bl T A 5: 136,089,133 (GRCm39) Y196* probably null Het
Vmn1r199 A T 13: 22,567,748 (GRCm39) K304N probably benign 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
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'- AGTTCCAAAGACTCCCCACTTG -3'
(R):5'- TAGAGGACAGACACAGCCTTATC -3'

Sequencing Primer
(F):5'- GACTCCCCACTTGTCCCAACTG -3'
(R):5'- TCAAAAATCTGTTCCACTTACCAGG -3'
Posted On 2016-12-20