Incidental Mutation 'IGL02747:Ap1s3'
| ID |
306087 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap1s3
|
| Ensembl Gene |
ENSMUSG00000054702 |
| Gene Name |
adaptor-related protein complex AP-1, sigma 3 |
| Synonyms |
Jr2, [s]3A |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79584593-79649689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79601409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 94
(Y94C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159312]
[ENSMUST00000160706]
[ENSMUST00000162342]
|
| AlphaFold |
Q7TN05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159312
|
| SMART Domains |
Protein: ENSMUSP00000125119
Gene: ENSMUSG00000054702
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
70 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160706
|
| SMART Domains |
Protein: ENSMUSP00000125631
Gene: ENSMUSG00000054702
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
81 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162342
AA Change: Y94C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: Y94C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
142 |
5e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195349
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
| Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
Het |
|
| Other mutations in Ap1s3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02502:Ap1s3
|
APN |
1 |
79,601,439 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03164:Ap1s3
|
APN |
1 |
79,602,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Ap1s3
|
UTSW |
1 |
79,602,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4647:Ap1s3
|
UTSW |
1 |
79,591,920 (GRCm39) |
splice site |
probably null |
|
|
R4780:Ap1s3
|
UTSW |
1 |
79,586,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5958:Ap1s3
|
UTSW |
1 |
79,591,960 (GRCm39) |
missense |
probably benign |
|
|
R6279:Ap1s3
|
UTSW |
1 |
79,602,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Ap1s3
|
UTSW |
1 |
79,602,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Ap1s3
|
UTSW |
1 |
79,592,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Ap1s3
|
UTSW |
1 |
79,602,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7135:Ap1s3
|
UTSW |
1 |
79,586,919 (GRCm39) |
missense |
probably benign |
|
|
R7485:Ap1s3
|
UTSW |
1 |
79,592,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7707:Ap1s3
|
UTSW |
1 |
79,591,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8378:Ap1s3
|
UTSW |
1 |
79,601,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Ap1s3
|
UTSW |
1 |
79,601,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation