Incidental Mutation 'R2282:Ap5b1'
| ID |
243200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap5b1
|
| Ensembl Gene |
ENSMUSG00000049562 |
| Gene Name |
adaptor-related protein complex 5, beta 1 subunit |
| Synonyms |
Gm962 |
| MMRRC Submission |
040281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R2282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5618053-5621289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5619665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 362
(T362S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096318]
|
| AlphaFold |
Q3TAP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096318
AA Change: T362S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094042
Gene: ENSMUSG00000049562
AA Change: T362S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
644 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,440,697 (GRCm39) |
L232P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,325,070 (GRCm39) |
M163T |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,056,073 (GRCm39) |
Y1029C |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 54,963,597 (GRCm39) |
S829* |
probably null |
Het |
| Cd1d2 |
A |
G |
3: 86,894,558 (GRCm39) |
K109E |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,686,359 (GRCm39) |
F1309L |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,327,448 (GRCm39) |
E2055V |
probably damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,087 (GRCm39) |
I141F |
unknown |
Het |
| Epha5 |
A |
T |
5: 84,298,269 (GRCm39) |
I542N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,791 (GRCm39) |
V1432D |
possibly damaging |
Het |
| Klf12 |
C |
T |
14: 100,137,581 (GRCm39) |
E322K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or2y1c |
T |
G |
11: 49,361,470 (GRCm39) |
M164R |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,776 (GRCm39) |
V185A |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,124 (GRCm39) |
M2V |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,571,452 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,373,934 (GRCm39) |
G2067D |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,252,705 (GRCm39) |
M164V |
probably benign |
Het |
| Snx5 |
T |
A |
2: 144,095,595 (GRCm39) |
E355D |
probably benign |
Het |
| Tmbim6 |
T |
C |
15: 99,302,407 (GRCm39) |
F93S |
probably damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,100,754 (GRCm39) |
Q77* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,629,882 (GRCm39) |
V14216A |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,870,859 (GRCm39) |
C808Y |
possibly damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,102 (GRCm39) |
F205S |
probably damaging |
Het |
|
| Other mutations in Ap5b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01906:Ap5b1
|
APN |
19 |
5,621,007 (GRCm39) |
nonsense |
probably null |
|
|
IGL02121:Ap5b1
|
APN |
19 |
5,620,815 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1513:Ap5b1
|
UTSW |
19 |
5,619,892 (GRCm39) |
nonsense |
probably null |
|
|
R2004:Ap5b1
|
UTSW |
19 |
5,620,502 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2036:Ap5b1
|
UTSW |
19 |
5,618,897 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3441:Ap5b1
|
UTSW |
19 |
5,620,011 (GRCm39) |
missense |
probably benign |
|
|
R3835:Ap5b1
|
UTSW |
19 |
5,618,918 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4241:Ap5b1
|
UTSW |
19 |
5,618,825 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5324:Ap5b1
|
UTSW |
19 |
5,619,863 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5359:Ap5b1
|
UTSW |
19 |
5,619,126 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7102:Ap5b1
|
UTSW |
19 |
5,620,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7132:Ap5b1
|
UTSW |
19 |
5,619,412 (GRCm39) |
nonsense |
probably null |
|
|
R8548:Ap5b1
|
UTSW |
19 |
5,621,123 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1088:Ap5b1
|
UTSW |
19 |
5,620,452 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Ap5b1
|
UTSW |
19 |
5,620,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACCAGTGCTTTTCAAG -3'
(R):5'- TCCTGTAGGAACCACTGTGG -3'
Sequencing Primer
(F):5'- GCCACAGCTGGTTCGGC -3'
(R):5'- TTCCTCATCGTCAGCACAGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation