Incidental Mutation 'R9269:Ap3b1'
| ID |
702792 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R9269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94540570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 164
(P164Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022196
AA Change: P164Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: P164Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,637,865 (GRCm39) |
S845P |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,219,745 (GRCm39) |
N709Y |
probably benign |
Het |
| Alox5ap |
A |
G |
5: 149,216,006 (GRCm39) |
Y64C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,018,620 (GRCm39) |
S521T |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,920 (GRCm39) |
N335D |
probably damaging |
Het |
| Arrdc2 |
G |
A |
8: 71,288,973 (GRCm39) |
A354V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,618,359 (GRCm39) |
S898P |
probably damaging |
Het |
| Atxn1 |
T |
A |
13: 45,710,680 (GRCm39) |
T751S |
probably benign |
Het |
| Begain |
T |
A |
12: 108,999,119 (GRCm39) |
R551W |
possibly damaging |
Het |
| Borcs8 |
C |
A |
8: 70,594,521 (GRCm39) |
D15E |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,892,516 (GRCm39) |
M183K |
probably damaging |
Het |
| Cldn3 |
T |
C |
5: 135,015,579 (GRCm39) |
L94P |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,419,422 (GRCm39) |
Y211N |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
C |
T |
1: 159,116,553 (GRCm39) |
P409L |
probably benign |
Het |
| Cplane1 |
A |
C |
15: 8,248,500 (GRCm39) |
Q1683P |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,573,024 (GRCm39) |
A241S |
probably benign |
Het |
| Cyfip1 |
C |
A |
7: 55,557,179 (GRCm39) |
S794* |
probably null |
Het |
| Dlg5 |
T |
A |
14: 24,242,881 (GRCm39) |
H172L |
probably damaging |
Het |
| Doc2a |
T |
A |
7: 126,450,159 (GRCm39) |
I199N |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,818,522 (GRCm39) |
T1191A |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Eif4a3l2 |
C |
T |
6: 116,529,317 (GRCm39) |
T398I |
probably damaging |
Het |
| Fcgr1 |
C |
T |
3: 96,193,154 (GRCm39) |
R281H |
probably benign |
Het |
| Fndc10 |
T |
C |
4: 155,779,205 (GRCm39) |
V83A |
possibly damaging |
Het |
| Galnt2 |
T |
A |
8: 125,065,202 (GRCm39) |
I444K |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,290 (GRCm39) |
Y426C |
probably damaging |
Het |
| Gtpbp1 |
C |
T |
15: 79,601,855 (GRCm39) |
R533C |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,252,502 (GRCm39) |
E60G |
probably damaging |
Het |
| Ighv1-81 |
A |
T |
12: 115,884,161 (GRCm39) |
L30Q |
possibly damaging |
Het |
| Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
| Ilrun |
A |
C |
17: 28,005,049 (GRCm39) |
Y169* |
probably null |
Het |
| Klf10 |
A |
G |
15: 38,298,002 (GRCm39) |
L44P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,813,017 (GRCm39) |
V1001A |
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,818,908 (GRCm39) |
S1211* |
probably null |
Het |
| Lmx1a |
T |
A |
1: 167,658,194 (GRCm39) |
H192Q |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,184 (GRCm39) |
H226R |
possibly damaging |
Het |
| Or2d2 |
T |
C |
7: 106,727,833 (GRCm39) |
I256V |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,270,276 (GRCm39) |
M116L |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,297 (GRCm39) |
F178L |
probably damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,586 (GRCm39) |
R231C |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,004,994 (GRCm39) |
H233R |
probably benign |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,353,004 (GRCm39) |
N226I |
unknown |
Het |
| Or5p52 |
T |
A |
7: 107,502,527 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,757 (GRCm39) |
M115T |
probably damaging |
Het |
| Or8k1 |
T |
C |
2: 86,047,247 (GRCm39) |
H269R |
probably damaging |
Het |
| Orai3 |
G |
T |
7: 127,373,194 (GRCm39) |
A232S |
probably benign |
Het |
| Pak1ip1 |
G |
A |
13: 41,162,727 (GRCm39) |
G177R |
probably benign |
Het |
| Pcp4l1 |
T |
C |
1: 171,001,975 (GRCm39) |
R62G |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,064 (GRCm39) |
Q74L |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,891,797 (GRCm39) |
Y159C |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,306,541 (GRCm39) |
R1430G |
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,155,315 (GRCm39) |
H1543R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,777,038 (GRCm39) |
F312Y |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,787,388 (GRCm39) |
L988P |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,460,572 (GRCm39) |
T840A |
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,105,831 (GRCm39) |
T39N |
probably benign |
Het |
| Rmi1 |
C |
T |
13: 58,556,840 (GRCm39) |
T363I |
probably benign |
Het |
| Rnpc3 |
A |
C |
3: 113,404,895 (GRCm39) |
I420S |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,785,394 (GRCm39) |
V435E |
probably benign |
Het |
| Rwdd1 |
T |
C |
10: 33,888,095 (GRCm39) |
T38A |
probably damaging |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Sel1l3 |
T |
C |
5: 53,311,628 (GRCm39) |
Y619C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,538,658 (GRCm39) |
T1121A |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,942,534 (GRCm39) |
V102A |
probably benign |
Het |
| Sh2b1 |
T |
C |
7: 126,068,354 (GRCm39) |
T486A |
probably damaging |
Het |
| Slc22a5 |
C |
T |
11: 53,766,981 (GRCm39) |
R169H |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,266,223 (GRCm39) |
V889A |
possibly damaging |
Het |
| Spast |
C |
A |
17: 74,646,069 (GRCm39) |
S13* |
probably null |
Het |
| Srek1 |
T |
C |
13: 103,889,654 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
G |
T |
8: 70,509,220 (GRCm39) |
E164D |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,910,973 (GRCm39) |
D224G |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,630,432 (GRCm39) |
D804G |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,766 (GRCm39) |
C1228Y |
probably damaging |
Het |
| Tes |
T |
A |
6: 17,100,341 (GRCm39) |
C325S |
probably benign |
Het |
| Themis |
T |
C |
10: 28,739,390 (GRCm39) |
V620A |
probably benign |
Het |
| Trim17 |
T |
C |
11: 58,862,257 (GRCm39) |
S430P |
probably damaging |
Het |
| Tubgcp5 |
T |
C |
7: 55,445,693 (GRCm39) |
I65T |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,171,955 (GRCm39) |
S928P |
unknown |
Het |
| Vat1l |
C |
T |
8: 115,016,172 (GRCm39) |
A354V |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,263 (GRCm39) |
S222T |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,820,213 (GRCm39) |
M29L |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,411 (GRCm39) |
I213V |
probably benign |
Het |
| Wdr89 |
T |
A |
12: 75,679,564 (GRCm39) |
Q230L |
possibly damaging |
Het |
| Zfp386 |
A |
G |
12: 116,023,283 (GRCm39) |
T334A |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,251,287 (GRCm39) |
H205L |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,323,076 (GRCm39) |
I890N |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,373 (GRCm39) |
E233G |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGTAATAGTCAGCCACGCTC -3'
(R):5'- GCAGAACTGTGGTCAGGATG -3'
Sequencing Primer
(F):5'- CGCTTGCTACATCATGCAGGTG -3'
(R):5'- CAGAACTGTGGTCAGGATGTAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation