Incidental Mutation 'IGL02815:Ap3m1'
ID |
360763 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ap3m1
|
Ensembl Gene |
ENSMUSG00000021824 |
Gene Name |
adaptor-related protein complex 3, mu 1 subunit |
Synonyms |
C78982, 1200013D09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
IGL02815
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
21083810-21102603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21086750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 393
(D393G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022369]
[ENSMUST00000022371]
[ENSMUST00000126536]
[ENSMUST00000130291]
[ENSMUST00000154460]
[ENSMUST00000224016]
|
AlphaFold |
Q9JKC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022369
|
SMART Domains |
Protein: ENSMUSP00000022369 Gene: ENSMUSG00000021823
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
3 |
485 |
9e-203 |
PFAM |
Pfam:Vinculin
|
475 |
1066 |
1.7e-301 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022371
AA Change: D339G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022371 Gene: ENSMUSG00000021824 AA Change: D339G
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
96 |
1e-23 |
SMART |
Pfam:Adap_comp_sub
|
111 |
364 |
9.1e-77 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122974
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126536
|
SMART Domains |
Protein: ENSMUSP00000116046 Gene: ENSMUSG00000021824
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
91 |
9e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130291
|
SMART Domains |
Protein: ENSMUSP00000118259 Gene: ENSMUSG00000021824
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
1 |
138 |
9e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131469
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154460
AA Change: D393G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117346 Gene: ENSMUSG00000021824 AA Change: D393G
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
1 |
136 |
1.8e-8 |
PFAM |
Pfam:Adap_comp_sub
|
165 |
418 |
1e-77 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148886
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224016
AA Change: D179G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
Farp2 |
A |
C |
1: 93,488,007 (GRCm39) |
N78T |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
Med17 |
A |
C |
9: 15,173,563 (GRCm39) |
M637R |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,845,285 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,338,979 (GRCm39) |
H95Q |
probably damaging |
Het |
Spata31d1d |
A |
T |
13: 59,874,678 (GRCm39) |
N952K |
possibly damaging |
Het |
Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
probably damaging |
Het |
|
Other mutations in Ap3m1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02628:Ap3m1
|
APN |
14 |
21,095,588 (GRCm39) |
nonsense |
probably null |
|
R0268:Ap3m1
|
UTSW |
14 |
21,087,170 (GRCm39) |
splice site |
probably benign |
|
R1780:Ap3m1
|
UTSW |
14 |
21,091,138 (GRCm39) |
missense |
probably benign |
0.20 |
R1961:Ap3m1
|
UTSW |
14 |
21,091,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Ap3m1
|
UTSW |
14 |
21,089,217 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3903:Ap3m1
|
UTSW |
14 |
21,086,732 (GRCm39) |
missense |
probably null |
1.00 |
R4837:Ap3m1
|
UTSW |
14 |
21,087,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Ap3m1
|
UTSW |
14 |
21,090,134 (GRCm39) |
missense |
probably benign |
0.00 |
R5050:Ap3m1
|
UTSW |
14 |
21,094,843 (GRCm39) |
missense |
probably benign |
0.00 |
R5741:Ap3m1
|
UTSW |
14 |
21,095,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6761:Ap3m1
|
UTSW |
14 |
21,088,096 (GRCm39) |
missense |
probably benign |
|
R7394:Ap3m1
|
UTSW |
14 |
21,088,147 (GRCm39) |
missense |
probably benign |
0.00 |
R7487:Ap3m1
|
UTSW |
14 |
21,088,107 (GRCm39) |
missense |
probably benign |
|
R7640:Ap3m1
|
UTSW |
14 |
21,088,243 (GRCm39) |
missense |
probably benign |
0.03 |
R9156:Ap3m1
|
UTSW |
14 |
21,090,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R9331:Ap3m1
|
UTSW |
14 |
21,095,666 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-12-18 |