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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |