Incidental Mutation 'R0380:Ap1g1'
| ID |
30934 |
| 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 |
038586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 110529796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034171]
[ENSMUST00000093157]
|
| 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: ENSMUST00000173200
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,538,500 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
T |
7: 119,877,703 (GRCm39) |
I1073L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,799,792 (GRCm39) |
P1116L |
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,814,675 (GRCm39) |
I671T |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,773 (GRCm39) |
I233V |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,761,576 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,157,773 (GRCm39) |
R129W |
probably damaging |
Het |
| Atp10b |
G |
T |
11: 43,116,424 (GRCm39) |
A924S |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,930,197 (GRCm39) |
|
probably null |
Het |
| Cckbr |
A |
G |
7: 105,084,198 (GRCm39) |
T311A |
probably benign |
Het |
| Cr2 |
C |
T |
1: 194,839,715 (GRCm39) |
G947R |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,720 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,857,810 (GRCm39) |
Y67H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,996 (GRCm39) |
Y282* |
probably null |
Het |
| Epg5 |
T |
C |
18: 78,004,056 (GRCm39) |
L688P |
probably damaging |
Het |
| Esr2 |
T |
G |
12: 76,170,065 (GRCm39) |
E458A |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,463,160 (GRCm39) |
S1326P |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Gpr12 |
T |
A |
5: 146,520,146 (GRCm39) |
T259S |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,584 (GRCm39) |
C625S |
possibly damaging |
Het |
| H2-Q1 |
C |
T |
17: 35,542,054 (GRCm39) |
H209Y |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,564,272 (GRCm39) |
|
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,923 (GRCm39) |
Y495* |
probably null |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,545 (GRCm39) |
Y306* |
probably null |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,983,753 (GRCm39) |
|
probably null |
Het |
| Maml2 |
C |
T |
9: 13,532,396 (GRCm39) |
R537* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,574,333 (GRCm39) |
A928T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,594,740 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,122,214 (GRCm39) |
M605K |
probably damaging |
Het |
| Or2c1 |
A |
T |
16: 3,656,849 (GRCm39) |
D4V |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,435,210 (GRCm39) |
I392S |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,371 (GRCm39) |
T2292A |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,923,512 (GRCm39) |
M108K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,707,130 (GRCm39) |
T259A |
probably benign |
Het |
| Recql |
C |
A |
6: 142,315,156 (GRCm39) |
R243L |
probably damaging |
Het |
| Rsf1 |
TGGCG |
TGGCGACGGCGGCG |
7: 97,229,112 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,878,551 (GRCm39) |
|
probably null |
Het |
| Slc16a14 |
T |
A |
1: 84,907,251 (GRCm39) |
I8F |
possibly damaging |
Het |
| Spef1 |
G |
T |
2: 131,014,332 (GRCm39) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,166 (GRCm39) |
L300P |
probably damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,551 (GRCm39) |
R230* |
probably null |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,118,314 (GRCm39) |
L38Q |
probably damaging |
Het |
| Tmem171 |
G |
T |
13: 98,828,535 (GRCm39) |
T205K |
possibly damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,443 (GRCm39) |
L650Q |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,288,698 (GRCm39) |
D518E |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,423 (GRCm39) |
V442A |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,725 (GRCm39) |
I905F |
probably damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,670 (GRCm39) |
C121Y |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,096,832 (GRCm39) |
Q322R |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,597,208 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATATCCAGAGGATGCCAGCCC -3'
(R):5'- ATGTGTGTCAGGAAGAGAATCCGC -3'
Sequencing Primer
(F):5'- CATCAGATTGCGGGAGCTG -3'
(R):5'- GACAGTTTTCCATATATCATGCCCAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation