Incidental Mutation 'R9413:Ap3s1'
| ID |
711911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap3s1
|
| Ensembl Gene |
ENSMUSG00000024480 |
| Gene Name |
adaptor-related protein complex 3, sigma 1 subunit |
| Synonyms |
[s]3A |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46874943-46923893 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 46887531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025357]
[ENSMUST00000224622]
[ENSMUST00000225415]
[ENSMUST00000225520]
[ENSMUST00000226108]
|
| AlphaFold |
Q9DCR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025357
|
| SMART Domains |
Protein: ENSMUSP00000025357
Gene: ENSMUSG00000024480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
148 |
1.4e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226108
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: This gene encodes the sigma subunit of the heterotetrameric adaptor protein complex AP-3 which is involved in the formation of specialized lysosome-related compartments such as melanosomes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
| Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
| Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
| Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
| C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
| Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
| Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
| Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
| Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
| Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
| Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
| Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
| Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
| Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
| Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
| Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
| Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
| Other mutations in Ap3s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0087:Ap3s1
|
UTSW |
18 |
46,891,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Ap3s1
|
UTSW |
18 |
46,912,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2102:Ap3s1
|
UTSW |
18 |
46,887,469 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4234:Ap3s1
|
UTSW |
18 |
46,912,267 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4500:Ap3s1
|
UTSW |
18 |
46,923,067 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4894:Ap3s1
|
UTSW |
18 |
46,891,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5081:Ap3s1
|
UTSW |
18 |
46,887,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6063:Ap3s1
|
UTSW |
18 |
46,887,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6209:Ap3s1
|
UTSW |
18 |
46,912,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6250:Ap3s1
|
UTSW |
18 |
46,887,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6401:Ap3s1
|
UTSW |
18 |
46,891,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6575:Ap3s1
|
UTSW |
18 |
46,887,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCGGCCAGAATTTTCCAG -3'
(R):5'- GCAACATGCAAATGAACATTAAGTG -3'
Sequencing Primer
(F):5'- TCCTTCCTCAGAGTGAAG -3'
(R):5'- GCAAATGAACATTAAGTGTGATCTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation