Incidental Mutation 'R7598:Ap1g1'
| ID |
587842 |
| 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 |
045641-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110576308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 447
(N447S)
|
| 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 |
probably benign
Transcript: ENSMUST00000034171
AA Change: N447S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: N447S
| 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
AA Change: N450S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: N450S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,480,370 (GRCm39) |
S234G |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,077 (GRCm39) |
N176K |
possibly damaging |
Het |
| AI661453 |
T |
C |
17: 47,777,045 (GRCm39) |
V257A |
unknown |
Het |
| Alpk2 |
T |
A |
18: 65,437,637 (GRCm39) |
K1252M |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,445 (GRCm39) |
T159A |
possibly damaging |
Het |
| Apoc4 |
A |
G |
7: 19,415,265 (GRCm39) |
V14A |
probably benign |
Het |
| Arfgef2 |
A |
C |
2: 166,698,444 (GRCm39) |
Q638P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,090 (GRCm39) |
F980L |
possibly damaging |
Het |
| Arhgap27 |
G |
A |
11: 103,224,879 (GRCm39) |
R459* |
probably null |
Het |
| Arhgef15 |
A |
T |
11: 68,837,236 (GRCm39) |
L785Q |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,500 (GRCm39) |
F249L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,278 (GRCm39) |
E233G |
possibly damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,349,006 (GRCm39) |
Q279K |
probably benign |
Het |
| Cilp2 |
A |
G |
8: 70,338,682 (GRCm39) |
C134R |
probably benign |
Het |
| Clec4b1 |
G |
A |
6: 123,048,427 (GRCm39) |
W187* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,437,541 (GRCm39) |
|
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,279 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,921,435 (GRCm39) |
H1387Q |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,235 (GRCm39) |
N148S |
probably damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,750 (GRCm39) |
V386E |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,639,334 (GRCm39) |
R413Q |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,965 (GRCm39) |
N5S |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,275,878 (GRCm39) |
L155* |
probably null |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,272 (GRCm39) |
G234* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,412 (GRCm39) |
F503L |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,389,735 (GRCm39) |
I463L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,999 (GRCm39) |
T1982A |
unknown |
Het |
| Myo18a |
A |
T |
11: 77,738,172 (GRCm39) |
T1705S |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,372,977 (GRCm39) |
S1090G |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,358 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,234 (GRCm39) |
C127F |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,833 (GRCm39) |
F323S |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,966,767 (GRCm39) |
T561S |
probably damaging |
Het |
| Phip |
A |
C |
9: 82,787,711 (GRCm39) |
S817R |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,941 (GRCm39) |
M40L |
unknown |
Het |
| Pip4k2a |
T |
A |
2: 18,877,098 (GRCm39) |
L212F |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,268,929 (GRCm39) |
I19L |
probably benign |
Het |
| Rbm4 |
T |
C |
19: 4,842,539 (GRCm39) |
E100G |
possibly damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,059,021 (GRCm39) |
Y259C |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,124,884 (GRCm39) |
D168G |
probably null |
Het |
| Sdk1 |
T |
G |
5: 141,595,753 (GRCm39) |
Y136* |
probably null |
Het |
| Slk |
G |
A |
19: 47,624,901 (GRCm39) |
E1041K |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,973 (GRCm39) |
R378* |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,909,467 (GRCm39) |
F188S |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,838 (GRCm39) |
C198R |
probably damaging |
Het |
| Tor1a |
A |
C |
2: 30,857,796 (GRCm39) |
I24S |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,263,569 (GRCm39) |
T1598K |
probably benign |
Het |
| Uncx |
G |
A |
5: 139,529,809 (GRCm39) |
V21M |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,803,342 (GRCm39) |
F53I |
possibly damaging |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp654 |
T |
A |
16: 64,606,297 (GRCm39) |
E94V |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,840 (GRCm39) |
L64P |
probably benign |
Het |
| Zfyve28 |
A |
C |
5: 34,393,461 (GRCm39) |
N68K |
probably 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 |
|
|
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 |
|
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'- ACCTGTTGGTTAGAATTACCCTG -3'
(R):5'- CTTGCGGAGTCCAGAAACTTTAATG -3'
Sequencing Primer
(F):5'- GGTTAGAATTACCCTGTGTTTGC -3'
(R):5'- TAATGGCTAAGCTACTGTCCAGGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation