Incidental Mutation 'R6978:Ap1g1'
| ID |
542570 |
| 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 |
045086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 110554968 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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
T |
16: 38,266,171 (GRCm39) |
G324S |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,727,015 (GRCm39) |
E140G |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,511,820 (GRCm39) |
Q458K |
probably benign |
Het |
| Arhgap45 |
G |
T |
10: 79,857,682 (GRCm39) |
V211F |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,738,059 (GRCm39) |
E1750G |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,527,018 (GRCm39) |
T336S |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,735,192 (GRCm39) |
|
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,107 (GRCm39) |
L272P |
probably damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,903,801 (GRCm39) |
S286T |
probably benign |
Het |
| Cyp4f18 |
T |
G |
8: 72,756,340 (GRCm39) |
S79R |
probably benign |
Het |
| Dio1 |
T |
C |
4: 107,164,030 (GRCm39) |
T96A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,701,526 (GRCm39) |
I210V |
probably null |
Het |
| Epha4 |
A |
G |
1: 77,354,220 (GRCm39) |
Y841H |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,959 (GRCm39) |
D70G |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,244,706 (GRCm39) |
T1680K |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,640 (GRCm39) |
V314A |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,356 (GRCm39) |
P116Q |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,322,343 (GRCm39) |
R1060C |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,582 (GRCm39) |
V205I |
probably benign |
Het |
| Mchr1 |
T |
C |
15: 81,121,997 (GRCm39) |
L249P |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,250,427 (GRCm39) |
N224S |
possibly damaging |
Het |
| Megf9 |
C |
T |
4: 70,351,766 (GRCm39) |
V452I |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,303,691 (GRCm39) |
R726G |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,793 (GRCm39) |
L583Q |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,886 (GRCm39) |
C1102R |
probably damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,762,631 (GRCm39) |
T55A |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,061,873 (GRCm39) |
R684Q |
possibly damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or4f7 |
T |
A |
2: 111,644,155 (GRCm39) |
L305F |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,099,085 (GRCm39) |
R225W |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,432 (GRCm39) |
L254P |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,347,063 (GRCm39) |
F10L |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,996,272 (GRCm39) |
T726S |
probably benign |
Het |
| Rab21 |
T |
A |
10: 115,134,766 (GRCm39) |
M118L |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,774 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
T |
C |
18: 12,318,804 (GRCm39) |
Y430H |
probably benign |
Het |
| Rpp38 |
A |
G |
2: 3,330,758 (GRCm39) |
L48P |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,883,807 (GRCm39) |
I735N |
probably damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,671 (GRCm39) |
Y461N |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,295 (GRCm39) |
*485L |
probably null |
Het |
| Speer4a2 |
C |
A |
5: 26,291,454 (GRCm39) |
E117D |
probably damaging |
Het |
| Spink8 |
T |
C |
9: 109,649,725 (GRCm39) |
V69A |
probably benign |
Het |
| Spred2 |
G |
A |
11: 19,948,254 (GRCm39) |
R83Q |
possibly damaging |
Het |
| Tmc1 |
T |
C |
19: 20,781,999 (GRCm39) |
N573S |
probably damaging |
Het |
| Tmem275 |
C |
T |
4: 115,755,560 (GRCm39) |
Q120* |
probably null |
Het |
| Tox4 |
G |
T |
14: 52,524,694 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,839,259 (GRCm39) |
S531G |
probably benign |
Het |
| Vmn2r56 |
C |
T |
7: 12,449,333 (GRCm39) |
V302I |
probably benign |
Het |
| Ypel1 |
C |
T |
16: 16,902,438 (GRCm39) |
A110V |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,882 (GRCm39) |
R117H |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (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 |
|
|
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 |
|
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'- GGCAGCTCCATATTACTAAATTCCG -3'
(R):5'- GCAGCCACACTCTACTTAATTC -3'
Sequencing Primer
(F):5'- AATAGATGTACTAGTTGGTGGTGTTC -3'
(R):5'- CTGCAGATTCCTGTTAGAAATAACTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation