Incidental Mutation 'R4886:Ap3b1'
| ID |
375759 |
| 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 |
042492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R4886 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94609313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 616
(D616V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022196
AA Change: D616V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: D616V
| 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 |
probably benign
Transcript: ENSMUST00000231916
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
T |
2: 32,464,630 (GRCm39) |
|
probably benign |
Het |
| Aagab |
G |
C |
9: 63,543,738 (GRCm39) |
A231P |
possibly damaging |
Het |
| Adgra3 |
C |
T |
5: 50,156,537 (GRCm39) |
D398N |
probably benign |
Het |
| Apc2 |
T |
A |
10: 80,150,047 (GRCm39) |
H1700Q |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp2b4 |
T |
A |
1: 133,634,518 (GRCm39) |
I1177L |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,623 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,894,319 (GRCm39) |
S1103P |
probably benign |
Het |
| Cdk6 |
G |
T |
5: 3,394,444 (GRCm39) |
K26N |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,934 (GRCm39) |
T614A |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,488 (GRCm39) |
Y133F |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,584,154 (GRCm39) |
T513A |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,766,419 (GRCm39) |
|
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,937,271 (GRCm39) |
I1415T |
probably benign |
Het |
| Cpne2 |
T |
A |
8: 95,290,592 (GRCm39) |
D392E |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,664,048 (GRCm39) |
N496D |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,024,197 (GRCm39) |
D61G |
probably damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,110,078 (GRCm39) |
V440A |
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,625,355 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,786,012 (GRCm39) |
D64G |
unknown |
Het |
| Dhrs7c |
G |
A |
11: 67,700,620 (GRCm39) |
V56M |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,364,015 (GRCm39) |
H4122Q |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,676,263 (GRCm39) |
I327F |
possibly damaging |
Het |
| Elavl3 |
T |
C |
9: 21,937,614 (GRCm39) |
K189E |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,636,593 (GRCm39) |
R82* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,932,626 (GRCm39) |
I1436F |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,487,874 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,151,616 (GRCm39) |
T115A |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,235 (GRCm39) |
V384M |
possibly damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,008 (GRCm39) |
E39G |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,003,260 (GRCm39) |
T81M |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,036,285 (GRCm39) |
P125L |
probably benign |
Het |
| Hnrnpul2 |
C |
T |
19: 8,807,191 (GRCm39) |
P618S |
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,373,203 (GRCm39) |
Y142C |
probably damaging |
Het |
| Iqcm |
A |
T |
8: 76,615,228 (GRCm39) |
R436S |
possibly damaging |
Het |
| Itih1 |
A |
G |
14: 30,658,658 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
T |
C |
12: 98,401,418 (GRCm39) |
N405S |
possibly damaging |
Het |
| Klhl14 |
A |
T |
18: 21,691,029 (GRCm39) |
|
probably null |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,668 (GRCm39) |
E587V |
unknown |
Het |
| Leap2 |
A |
T |
11: 53,313,653 (GRCm39) |
F40I |
probably damaging |
Het |
| Leng8 |
T |
A |
7: 4,147,930 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,765,910 (GRCm39) |
F378L |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,625 (GRCm39) |
H184R |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,397,431 (GRCm39) |
Y275N |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,750,581 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,915,962 (GRCm39) |
Y55H |
probably benign |
Het |
| Mrpl17 |
T |
C |
7: 105,459,260 (GRCm39) |
N112S |
probably benign |
Het |
| Nectin4 |
T |
C |
1: 171,212,383 (GRCm39) |
V327A |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,781,862 (GRCm39) |
H353L |
probably benign |
Het |
| Notch2 |
A |
T |
3: 98,009,735 (GRCm39) |
Y554F |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,880,193 (GRCm39) |
S72P |
probably damaging |
Het |
| Nrsn2 |
T |
C |
2: 152,211,531 (GRCm39) |
K167E |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,262,962 (GRCm39) |
S318T |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,885 (GRCm39) |
|
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,881 (GRCm39) |
T10A |
probably benign |
Het |
| Or9i2 |
T |
A |
19: 13,815,643 (GRCm39) |
E298V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,925,564 (GRCm39) |
N485S |
probably benign |
Het |
| Pbk |
T |
A |
14: 66,052,650 (GRCm39) |
H164Q |
probably damaging |
Het |
| Pfn2 |
G |
T |
3: 57,754,874 (GRCm39) |
N10K |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
| Pik3ca |
A |
G |
3: 32,491,312 (GRCm39) |
D133G |
probably damaging |
Het |
| Pramel27 |
G |
T |
4: 143,579,873 (GRCm39) |
R486L |
probably benign |
Het |
| Prkar2a |
G |
A |
9: 108,622,823 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,983 (GRCm39) |
D193V |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,258,838 (GRCm39) |
D279E |
probably benign |
Het |
| Rad21 |
G |
T |
15: 51,831,896 (GRCm39) |
P395Q |
probably damaging |
Het |
| Rnf168 |
C |
A |
16: 32,118,014 (GRCm39) |
T525K |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,964 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
G |
A |
13: 38,115,034 (GRCm39) |
V798M |
possibly damaging |
Het |
| Scgb3a2 |
C |
T |
18: 43,899,819 (GRCm39) |
P36S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,291,376 (GRCm39) |
D1790G |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,777,619 (GRCm39) |
H1226Q |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,665,389 (GRCm39) |
Y106* |
probably null |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,078,438 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,279,494 (GRCm39) |
I91N |
possibly damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,989,315 (GRCm39) |
T131A |
probably damaging |
Het |
| Spata1 |
C |
G |
3: 146,175,529 (GRCm39) |
D326H |
probably damaging |
Het |
| St8sia1 |
G |
A |
6: 142,859,860 (GRCm39) |
L90F |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 59,896,313 (GRCm39) |
Y657F |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,327,659 (GRCm39) |
C1404* |
probably null |
Het |
| Tma16 |
A |
C |
8: 66,934,129 (GRCm39) |
C75W |
probably damaging |
Het |
| Trgv4 |
T |
C |
13: 19,369,236 (GRCm39) |
V29A |
probably benign |
Het |
| Trim3 |
T |
A |
7: 105,267,047 (GRCm39) |
H444L |
probably damaging |
Het |
| Trmt10a |
A |
T |
3: 137,854,146 (GRCm39) |
K75* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,561,644 (GRCm39) |
D28954G |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,273,376 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
A |
17: 35,234,702 (GRCm39) |
V1177E |
probably benign |
Het |
| Vmn2r114 |
G |
T |
17: 23,527,008 (GRCm39) |
A508E |
probably benign |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,800 (GRCm39) |
K144N |
probably benign |
Het |
| Wdr41 |
C |
T |
13: 95,151,682 (GRCm39) |
Q281* |
probably null |
Het |
| Zfp938 |
T |
A |
10: 82,061,957 (GRCm39) |
Q221L |
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 |
|
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 |
|
R6301:Ap3b1
|
UTSW |
13 |
94,664,803 (GRCm39) |
missense |
unknown |
|
|
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'- GTTTAGCTGCGCTGTCATTC -3'
(R):5'- AACAGCGCTCAGTTTTCAGC -3'
Sequencing Primer
(F):5'- GCGCTGTCATTCCTAATATTCACAG -3'
(R):5'- TGGTAGTTACCCAAGAAGCTCTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation