Incidental Mutation 'R4506:Ap5m1'
ID |
332031 |
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 |
041584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
49303869-49331681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49311218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 96
(V96A)
|
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 damaging
Transcript: ENSMUST00000037473
AA Change: V96A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046536 Gene: ENSMUSG00000036291 AA Change: V96A
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: ENSMUST00000227410
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227431
AA Change: V96A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227608
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227991
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228238
AA Change: V96A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6024 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
Ip6k3 |
A |
T |
17: 27,364,154 (GRCm39) |
L298Q |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,614,234 (GRCm39) |
|
probably null |
Het |
Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
Tbrg1 |
T |
A |
9: 37,565,691 (GRCm39) |
E87V |
probably damaging |
Het |
Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
Tomm34 |
C |
A |
2: 163,896,292 (GRCm39) |
|
probably null |
Het |
Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
Zfp276 |
G |
A |
8: 123,991,666 (GRCm39) |
|
probably null |
Het |
Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGAGCCAAAGCCTTCAATG -3'
(R):5'- CTGTAGAAGCAAGTCAGGCAAC -3'
Sequencing Primer
(F):5'- GCCAAAGCCTTCAATGGAATG -3'
(R):5'- ACTGACTCAGTTTTGTGTGTAGGTC -3'
|
Posted On |
2015-07-21 |