Incidental Mutation 'IGL00792:Ap1m1'
| ID |
13298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap1m1
|
| Ensembl Gene |
ENSMUSG00000003033 |
| Gene Name |
adaptor-related protein complex AP-1, mu subunit 1 |
| Synonyms |
mu1A, Cltnm, Adtm1A, AP47, [m]1A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72993862-73011229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73009599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 369
(D369G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003117]
[ENSMUST00000126885]
|
| AlphaFold |
P35585 |
| PDB Structure |
AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [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 |
possibly damaging
Transcript: ENSMUST00000003117
AA Change: D369G
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033
AA Change: D369G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
2 |
141 |
4.6e-7 |
PFAM |
|
Pfam:Adap_comp_sub
|
157 |
422 |
2.5e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126885
|
| SMART Domains |
Protein: ENSMUSP00000120435
Gene: ENSMUSG00000003033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
4 |
115 |
4.8e-7 |
PFAM |
|
Pfam:Adap_comp_sub
|
131 |
181 |
6.4e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156735
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E13.5. Homozygous embryos display hemorrhage of the ventricles and spinal canal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,228,790 (GRCm39) |
I346V |
probably benign |
Het |
| Actl7a |
A |
T |
4: 56,743,944 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,106,403 (GRCm39) |
F904L |
probably damaging |
Het |
| Atp23 |
A |
T |
10: 126,736,969 (GRCm39) |
|
probably null |
Het |
| Atp5pd |
A |
G |
11: 115,308,675 (GRCm39) |
|
probably null |
Het |
| Btf3l4 |
G |
A |
4: 108,674,056 (GRCm39) |
S153L |
probably benign |
Het |
| Carf |
G |
T |
1: 60,165,168 (GRCm39) |
V117L |
possibly damaging |
Het |
| Cntnap1 |
C |
A |
11: 101,069,792 (GRCm39) |
N290K |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,264,388 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,699,337 (GRCm39) |
C989S |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,366,939 (GRCm39) |
R591C |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,521,684 (GRCm39) |
V74A |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,678,944 (GRCm39) |
|
probably null |
Het |
| Gm13547 |
A |
T |
2: 29,653,417 (GRCm39) |
D85V |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,685,476 (GRCm39) |
S46R |
possibly damaging |
Het |
| Ifih1 |
T |
A |
2: 62,476,214 (GRCm39) |
R21W |
probably damaging |
Het |
| Ift43 |
A |
T |
12: 86,186,840 (GRCm39) |
Q87L |
probably null |
Het |
| Itprid2 |
C |
T |
2: 79,487,807 (GRCm39) |
A630V |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,307,360 (GRCm39) |
L178F |
probably benign |
Het |
| Kel |
G |
T |
6: 41,678,946 (GRCm39) |
N172K |
probably damaging |
Het |
| Krtap3-2 |
A |
T |
11: 99,447,372 (GRCm39) |
Y85* |
probably null |
Het |
| Lrrc49 |
A |
G |
9: 60,595,121 (GRCm39) |
S8P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,752,902 (GRCm39) |
I20T |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,071,929 (GRCm39) |
K364E |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,088,500 (GRCm39) |
K608E |
possibly damaging |
Het |
| Robo4 |
C |
T |
9: 37,319,507 (GRCm39) |
L586F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,692,416 (GRCm39) |
S191P |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,962,468 (GRCm39) |
H242Q |
probably damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,499,452 (GRCm39) |
N283K |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,672,649 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
G |
T |
1: 74,650,276 (GRCm39) |
L269F |
probably benign |
Het |
| Thop1 |
T |
A |
10: 80,914,433 (GRCm39) |
L240* |
probably null |
Het |
| Tmem52b |
T |
A |
6: 129,493,704 (GRCm39) |
S106T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,970 (GRCm39) |
D30345V |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,795,663 (GRCm39) |
V210A |
probably damaging |
Het |
| Zfp568 |
A |
G |
7: 29,714,497 (GRCm39) |
R124G |
probably benign |
Het |
|
| Other mutations in Ap1m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00795:Ap1m1
|
APN |
8 |
73,007,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Ap1m1
|
APN |
8 |
73,003,653 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0363:Ap1m1
|
UTSW |
8 |
73,010,568 (GRCm39) |
unclassified |
probably benign |
|
|
R0363:Ap1m1
|
UTSW |
8 |
73,006,738 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1295:Ap1m1
|
UTSW |
8 |
73,005,719 (GRCm39) |
splice site |
probably null |
|
|
R1681:Ap1m1
|
UTSW |
8 |
73,009,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1784:Ap1m1
|
UTSW |
8 |
73,006,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1934:Ap1m1
|
UTSW |
8 |
73,009,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4549:Ap1m1
|
UTSW |
8 |
72,994,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Ap1m1
|
UTSW |
8 |
73,006,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6003:Ap1m1
|
UTSW |
8 |
73,003,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Ap1m1
|
UTSW |
8 |
73,003,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Ap1m1
|
UTSW |
8 |
73,006,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Ap1m1
|
UTSW |
8 |
72,994,066 (GRCm39) |
nonsense |
probably null |
|
|
R9134:Ap1m1
|
UTSW |
8 |
72,993,913 (GRCm39) |
unclassified |
probably benign |
|
|
R9641:Ap1m1
|
UTSW |
8 |
73,003,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation