Incidental Mutation 'R3897:Ap1g1'
| ID |
309015 |
| 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 |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110581631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 633
(D633G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034171]
[ENSMUST00000093157]
|
| AlphaFold |
P22892 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034171
AA Change: D630G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: D630G
| 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 damaging
Transcript: ENSMUST00000093157
AA Change: D633G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: D633G
| 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: ENSMUST00000173476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173980
|
| Meta Mutation Damage Score |
0.6191 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
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 |
|
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'- AAATGGCCCTTCGGAGATCG -3'
(R):5'- TCAGTATCTTTTACCCCAAGATGTC -3'
Sequencing Primer
(F):5'- AAGCCAGGTCCTTGTCTGG -3'
(R):5'- TACCCCAAGATGTCTATCTACCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation