Incidental Mutation 'R9750:Ap5m1'
ID |
732483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap5m1
|
Ensembl Gene |
ENSMUSG00000036291 |
Gene Name |
adaptor-related protein complex 5, mu 1 subunit |
Synonyms |
Mudeng, 4932432K03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9750 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
49303869-49331681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49317756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046536
(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
AA Change: T338A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000046536 Gene: ENSMUSG00000036291 AA Change: T338A
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
AA Change: T338A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227608
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228238
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
Esco1 |
A |
G |
18: 10,594,510 (GRCm39) |
S259P |
probably benign |
Het |
Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
Pgr |
T |
C |
9: 8,901,918 (GRCm39) |
S484P |
possibly damaging |
Het |
Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
Tgs1 |
C |
A |
4: 3,585,869 (GRCm39) |
Q249K |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,394 (GRCm39) |
L21Q |
probably damaging |
Het |
Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGAACAAGTGTGTACGCC -3'
(R):5'- GGCTAATTCGATTCGCCAGG -3'
Sequencing Primer
(F):5'- TCTCATATCTGCTCAGAGAGGCAG -3'
(R):5'- CTAATTCGATTCGCCAGGTTGTTG -3'
|
Posted On |
2022-11-14 |