Incidental Mutation 'IGL01806:Ap5m1'
ID |
155684 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ap5m1
|
Ensembl Gene |
ENSMUSG00000036291 |
Gene Name |
adaptor-related protein complex 5, mu 1 subunit |
Synonyms |
Mudeng, 4932432K03Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01806
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
49303869-49331681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49317797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 351
(F351L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037473]
[ENSMUST00000227410]
[ENSMUST00000227431]
[ENSMUST00000227608]
[ENSMUST00000228238]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037473
AA Change: F351L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046536 Gene: ENSMUSG00000036291 AA Change: F351L
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
Pfam:Adap_comp_sub
|
196 |
476 |
3.2e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226695
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227410
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227431
AA Change: F351L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227608
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227991
AA Change: F102L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228238
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
|
Other mutations in Ap5m1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Ap5m1
|
APN |
14 |
49,311,247 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02011:Ap5m1
|
APN |
14 |
49,318,592 (GRCm39) |
unclassified |
probably benign |
|
IGL02165:Ap5m1
|
APN |
14 |
49,316,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02203:Ap5m1
|
APN |
14 |
49,317,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02950:Ap5m1
|
APN |
14 |
49,311,392 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03123:Ap5m1
|
APN |
14 |
49,311,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03368:Ap5m1
|
APN |
14 |
49,318,593 (GRCm39) |
unclassified |
probably benign |
|
R1688:Ap5m1
|
UTSW |
14 |
49,318,291 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2113:Ap5m1
|
UTSW |
14 |
49,323,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Ap5m1
|
UTSW |
14 |
49,323,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Ap5m1
|
UTSW |
14 |
49,318,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Ap5m1
|
UTSW |
14 |
49,321,339 (GRCm39) |
nonsense |
probably null |
|
R3425:Ap5m1
|
UTSW |
14 |
49,311,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R4506:Ap5m1
|
UTSW |
14 |
49,311,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Ap5m1
|
UTSW |
14 |
49,316,285 (GRCm39) |
missense |
probably benign |
0.00 |
R4799:Ap5m1
|
UTSW |
14 |
49,318,527 (GRCm39) |
missense |
probably benign |
0.08 |
R6365:Ap5m1
|
UTSW |
14 |
49,316,285 (GRCm39) |
missense |
probably benign |
0.00 |
R6834:Ap5m1
|
UTSW |
14 |
49,311,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R7115:Ap5m1
|
UTSW |
14 |
49,323,727 (GRCm39) |
nonsense |
probably null |
|
R7224:Ap5m1
|
UTSW |
14 |
49,318,384 (GRCm39) |
missense |
unknown |
|
R7383:Ap5m1
|
UTSW |
14 |
49,311,653 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7539:Ap5m1
|
UTSW |
14 |
49,311,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Ap5m1
|
UTSW |
14 |
49,311,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Ap5m1
|
UTSW |
14 |
49,311,232 (GRCm39) |
missense |
probably benign |
0.11 |
R8853:Ap5m1
|
UTSW |
14 |
49,311,337 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9236:Ap5m1
|
UTSW |
14 |
49,311,064 (GRCm39) |
missense |
probably benign |
0.00 |
R9545:Ap5m1
|
UTSW |
14 |
49,311,271 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9750:Ap5m1
|
UTSW |
14 |
49,317,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |