Incidental Mutation 'R6301:Ap3b1'
| ID |
509116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap3b1
|
| Ensembl Gene |
ENSMUSG00000021686 |
| Gene Name |
adaptor-related protein complex 3, beta 1 subunit |
| Synonyms |
AP-3, Hps2, beta3A, rim2, recombination induced mutation 2 |
| MMRRC Submission |
044466-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R6301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94664803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 914
(Q914L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: Q914L
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: Q914L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
Pfam:Adaptin_N
|
39 |
586 |
1.2e-170 |
PFAM |
|
Pfam:SEEEED
|
672 |
812 |
1.3e-27 |
PFAM |
|
AP3B1_C
|
822 |
969 |
1.58e-78 |
SMART |
|
Blast:B2
|
993 |
1103 |
2e-27 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222383
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231916
AA Change: Q279L
|
| Meta Mutation Damage Score |
0.3719 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(53) : Targeted(4) Gene trapped(34) Spontaneous(14) Chemically induced(1)
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
C |
T |
4: 144,285,224 (GRCm39) |
A138T |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,666,348 (GRCm39) |
N131S |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,049,177 (GRCm39) |
Y220C |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,021,751 (GRCm39) |
D216G |
possibly damaging |
Het |
| Bcas2 |
T |
A |
3: 103,079,187 (GRCm39) |
|
probably benign |
Het |
| Bpifb5 |
A |
C |
2: 154,072,139 (GRCm39) |
H282P |
possibly damaging |
Het |
| Ccdc121rt2 |
A |
T |
5: 112,598,334 (GRCm39) |
I294F |
possibly damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,556 (GRCm39) |
I15T |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,120,009 (GRCm39) |
N619S |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,400,828 (GRCm39) |
F234S |
possibly damaging |
Het |
| Clcc1 |
T |
G |
3: 108,580,682 (GRCm39) |
M332R |
probably damaging |
Het |
| Cmklr1 |
T |
A |
5: 113,752,999 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,199,032 (GRCm39) |
M109V |
probably benign |
Het |
| Coq2 |
A |
G |
5: 100,809,729 (GRCm39) |
I18T |
possibly damaging |
Het |
| Crybg3 |
T |
C |
16: 59,350,701 (GRCm39) |
S880G |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,482,889 (GRCm39) |
C286R |
probably damaging |
Het |
| Defa24 |
T |
C |
8: 22,225,299 (GRCm39) |
V63A |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,063,200 (GRCm39) |
R2634H |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 141,636,756 (GRCm39) |
|
probably null |
Het |
| Elac1 |
T |
C |
18: 73,871,939 (GRCm39) |
D352G |
probably damaging |
Het |
| Ermap |
A |
T |
4: 119,042,800 (GRCm39) |
V241E |
probably damaging |
Het |
| Fgf10 |
T |
A |
13: 118,852,047 (GRCm39) |
M43K |
probably benign |
Het |
| Gabrd |
A |
G |
4: 155,471,724 (GRCm39) |
V193A |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,392,283 (GRCm39) |
C182W |
possibly damaging |
Het |
| Hook3 |
C |
T |
8: 26,524,968 (GRCm39) |
W26* |
probably null |
Het |
| Kif1a |
C |
A |
1: 92,982,663 (GRCm39) |
E714* |
probably null |
Het |
| Krt6b |
T |
C |
15: 101,587,386 (GRCm39) |
E236G |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,199,861 (GRCm39) |
L209P |
probably damaging |
Het |
| Lats1 |
A |
G |
10: 7,578,871 (GRCm39) |
N665S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,756 (GRCm39) |
|
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,001 (GRCm39) |
I55M |
probably benign |
Het |
| Ltk |
A |
G |
2: 119,582,238 (GRCm39) |
S838P |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,217,194 (GRCm39) |
I348V |
probably benign |
Het |
| Mag |
T |
A |
7: 30,600,104 (GRCm39) |
S559C |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,503,120 (GRCm39) |
H1072R |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,392,862 (GRCm39) |
Q833L |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,159 (GRCm39) |
E1406K |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,330,302 (GRCm39) |
V950I |
probably benign |
Het |
| Npl |
A |
G |
1: 153,394,627 (GRCm39) |
|
probably null |
Het |
| Or10w3 |
A |
G |
19: 13,703,753 (GRCm39) |
I43V |
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,711 (GRCm39) |
F281I |
probably benign |
Het |
| Or2m13 |
A |
T |
16: 19,226,167 (GRCm39) |
F200I |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Oxsm |
A |
T |
14: 16,242,220 (GRCm38) |
I183N |
probably damaging |
Het |
| Pde7a |
T |
C |
3: 19,297,327 (GRCm39) |
I108V |
probably benign |
Het |
| Pgghg |
A |
T |
7: 140,526,289 (GRCm39) |
T585S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,452,921 (GRCm39) |
D3949N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,169,331 (GRCm39) |
H1777Q |
possibly damaging |
Het |
| Rela |
G |
A |
19: 5,695,438 (GRCm39) |
|
probably null |
Het |
| Rilpl1 |
C |
A |
5: 124,652,602 (GRCm39) |
G41W |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,477 (GRCm39) |
K1212E |
probably benign |
Het |
| Sgca |
A |
C |
11: 94,863,393 (GRCm39) |
L28V |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,758 (GRCm39) |
R148G |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,333,836 (GRCm39) |
N165Y |
probably damaging |
Het |
| Tbl2 |
A |
T |
5: 135,188,223 (GRCm39) |
H339L |
probably benign |
Het |
| Tcof1 |
G |
A |
18: 60,961,897 (GRCm39) |
P718L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 127,603,786 (GRCm39) |
E44V |
possibly damaging |
Het |
| Try10 |
T |
A |
6: 41,332,523 (GRCm39) |
S60T |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,499 (GRCm39) |
S1315T |
possibly damaging |
Het |
| Xrn2 |
A |
G |
2: 146,905,262 (GRCm39) |
I856V |
probably benign |
Het |
|
| Other mutations in Ap3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Ap3b1
|
APN |
13 |
94,527,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00766:Ap3b1
|
APN |
13 |
94,679,392 (GRCm39) |
splice site |
probably benign |
|
|
IGL01784:Ap3b1
|
APN |
13 |
94,630,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01979:Ap3b1
|
APN |
13 |
94,584,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL02040:Ap3b1
|
APN |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02119:Ap3b1
|
APN |
13 |
94,598,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02247:Ap3b1
|
APN |
13 |
94,531,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02303:Ap3b1
|
APN |
13 |
94,664,827 (GRCm39) |
missense |
unknown |
|
|
IGL02493:Ap3b1
|
APN |
13 |
94,540,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02551:Ap3b1
|
APN |
13 |
94,554,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02651:Ap3b1
|
APN |
13 |
94,613,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02832:Ap3b1
|
APN |
13 |
94,664,835 (GRCm39) |
missense |
unknown |
|
|
IGL03033:Ap3b1
|
APN |
13 |
94,585,003 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03101:Ap3b1
|
APN |
13 |
94,591,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
bella
|
UTSW |
13 |
94,664,765 (GRCm39) |
missense |
unknown |
|
|
bullet_gray
|
UTSW |
13 |
94,587,594 (GRCm39) |
critical splice donor site |
probably benign |
|
|
cuttlefish
|
UTSW |
13 |
94,584,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Gastropod
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
|
razor
|
UTSW |
13 |
94,630,239 (GRCm39) |
missense |
unknown |
|
|
Slime
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
slug
|
UTSW |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
snail
|
UTSW |
13 |
94,616,393 (GRCm39) |
splice site |
probably benign |
|
|
stalk
|
UTSW |
13 |
94,609,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0034:Ap3b1
|
UTSW |
13 |
94,616,393 (GRCm39) |
splice site |
probably benign |
|
|
R0265:Ap3b1
|
UTSW |
13 |
94,630,189 (GRCm39) |
missense |
unknown |
|
|
R0270:Ap3b1
|
UTSW |
13 |
94,540,626 (GRCm39) |
splice site |
probably benign |
|
|
R0346:Ap3b1
|
UTSW |
13 |
94,582,479 (GRCm39) |
nonsense |
probably null |
|
|
R0422:Ap3b1
|
UTSW |
13 |
94,598,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0496:Ap3b1
|
UTSW |
13 |
94,609,446 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Ap3b1
|
UTSW |
13 |
94,702,222 (GRCm39) |
missense |
unknown |
|
|
R0764:Ap3b1
|
UTSW |
13 |
94,616,387 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Ap3b1
|
UTSW |
13 |
94,582,651 (GRCm39) |
splice site |
probably benign |
|
|
R1593:Ap3b1
|
UTSW |
13 |
94,638,435 (GRCm39) |
missense |
unknown |
|
|
R1660:Ap3b1
|
UTSW |
13 |
94,545,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1735:Ap3b1
|
UTSW |
13 |
94,630,225 (GRCm39) |
missense |
unknown |
|
|
R1791:Ap3b1
|
UTSW |
13 |
94,545,305 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1818:Ap3b1
|
UTSW |
13 |
94,608,212 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2280:Ap3b1
|
UTSW |
13 |
94,664,724 (GRCm39) |
missense |
unknown |
|
|
R3031:Ap3b1
|
UTSW |
13 |
94,702,151 (GRCm39) |
missense |
unknown |
|
|
R3037:Ap3b1
|
UTSW |
13 |
94,582,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4401:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4403:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Ap3b1
|
UTSW |
13 |
94,702,243 (GRCm39) |
missense |
unknown |
|
|
R4624:Ap3b1
|
UTSW |
13 |
94,619,734 (GRCm39) |
missense |
unknown |
|
|
R4626:Ap3b1
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4754:Ap3b1
|
UTSW |
13 |
94,540,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Ap3b1
|
UTSW |
13 |
94,702,149 (GRCm39) |
missense |
unknown |
|
|
R4847:Ap3b1
|
UTSW |
13 |
94,608,287 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4886:Ap3b1
|
UTSW |
13 |
94,609,313 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5096:Ap3b1
|
UTSW |
13 |
94,616,357 (GRCm39) |
missense |
unknown |
|
|
R5628:Ap3b1
|
UTSW |
13 |
94,613,556 (GRCm39) |
missense |
unknown |
|
|
R5671:Ap3b1
|
UTSW |
13 |
94,664,765 (GRCm39) |
missense |
unknown |
|
|
R5677:Ap3b1
|
UTSW |
13 |
94,664,704 (GRCm39) |
missense |
unknown |
|
|
R5862:Ap3b1
|
UTSW |
13 |
94,684,278 (GRCm39) |
missense |
unknown |
|
|
R5941:Ap3b1
|
UTSW |
13 |
94,619,773 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5941:Ap3b1
|
UTSW |
13 |
94,576,781 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6043:Ap3b1
|
UTSW |
13 |
94,613,501 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6212:Ap3b1
|
UTSW |
13 |
94,630,207 (GRCm39) |
missense |
unknown |
|
|
R6212:Ap3b1
|
UTSW |
13 |
94,587,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Ap3b1
|
UTSW |
13 |
94,599,017 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6812:Ap3b1
|
UTSW |
13 |
94,616,369 (GRCm39) |
missense |
unknown |
|
|
R6888:Ap3b1
|
UTSW |
13 |
94,545,299 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6901:Ap3b1
|
UTSW |
13 |
94,554,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7157:Ap3b1
|
UTSW |
13 |
94,668,542 (GRCm39) |
nonsense |
probably null |
|
|
R7422:Ap3b1
|
UTSW |
13 |
94,664,673 (GRCm39) |
missense |
unknown |
|
|
R7642:Ap3b1
|
UTSW |
13 |
94,613,540 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7710:Ap3b1
|
UTSW |
13 |
94,587,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Ap3b1
|
UTSW |
13 |
94,664,666 (GRCm39) |
splice site |
probably null |
|
|
R7867:Ap3b1
|
UTSW |
13 |
94,619,771 (GRCm39) |
missense |
unknown |
|
|
R8492:Ap3b1
|
UTSW |
13 |
94,531,294 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8706:Ap3b1
|
UTSW |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8749:Ap3b1
|
UTSW |
13 |
94,664,725 (GRCm39) |
missense |
unknown |
|
|
R8876:Ap3b1
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8889:Ap3b1
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
|
R8892:Ap3b1
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
|
R9065:Ap3b1
|
UTSW |
13 |
94,608,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9152:Ap3b1
|
UTSW |
13 |
94,630,239 (GRCm39) |
missense |
unknown |
|
|
R9152:Ap3b1
|
UTSW |
13 |
94,609,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9166:Ap3b1
|
UTSW |
13 |
94,608,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Ap3b1
|
UTSW |
13 |
94,584,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9269:Ap3b1
|
UTSW |
13 |
94,540,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTCCTGAGTATTGGCTTG -3'
(R):5'- CACACAGGGCACTCTCAGTTAG -3'
Sequencing Primer
(F):5'- AGTAGTGACTGAATGTCCTCAC -3'
(R):5'- GGGCACTCTCAGTTAGTAAATAATGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation