Incidental Mutation 'IGL02011:Ap5m1'
| ID |
183378 |
| 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 # |
IGL02011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
49303869-49331681 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 49318592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037473]
[ENSMUST00000227410]
[ENSMUST00000227431]
[ENSMUST00000227608]
[ENSMUST00000228238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037473
|
| SMART Domains |
Protein: ENSMUSP00000046536
Gene: ENSMUSG00000036291
| 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 benign
Transcript: ENSMUST00000227431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228238
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably 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 |
|
IGL01806:Ap5m1
|
APN |
14 |
49,317,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation