Incidental Mutation 'IGL01718:Ap2m1'
| ID |
105015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap2m1
|
| Ensembl Gene |
ENSMUSG00000022841 |
| Gene Name |
adaptor-related protein complex 2, mu 1 subunit |
| Synonyms |
clathrin-associated AP-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20354230-20363659 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 20360944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007216]
[ENSMUST00000090023]
[ENSMUST00000126788]
[ENSMUST00000232001]
|
| AlphaFold |
P84091 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007216
|
| SMART Domains |
Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
137 |
6.7e-8 |
PFAM |
|
Pfam:Adap_comp_sub
|
159 |
435 |
3.2e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090023
|
| SMART Domains |
Protein: ENSMUSP00000087477
Gene: ENSMUSG00000022841
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
137 |
4.2e-8 |
PFAM |
|
Pfam:Adap_comp_sub
|
157 |
433 |
8.7e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232001
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted deletion display embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
Het |
|
| Other mutations in Ap2m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0110:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0390:Ap2m1
|
UTSW |
16 |
20,359,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0450:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0510:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1386:Ap2m1
|
UTSW |
16 |
20,359,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Ap2m1
|
UTSW |
16 |
20,361,447 (GRCm39) |
missense |
probably benign |
|
|
R1728:Ap2m1
|
UTSW |
16 |
20,358,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1729:Ap2m1
|
UTSW |
16 |
20,358,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Ap2m1
|
UTSW |
16 |
20,362,134 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5773:Ap2m1
|
UTSW |
16 |
20,362,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6953:Ap2m1
|
UTSW |
16 |
20,361,468 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7226:Ap2m1
|
UTSW |
16 |
20,358,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7266:Ap2m1
|
UTSW |
16 |
20,362,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Ap2m1
|
UTSW |
16 |
20,358,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9571:Ap2m1
|
UTSW |
16 |
20,360,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Ap2m1
|
UTSW |
16 |
20,358,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation