Incidental Mutation 'R0299:Ap4b1'
ID |
24774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap4b1
|
Ensembl Gene |
ENSMUSG00000032952 |
Gene Name |
adaptor-related protein complex AP-4, beta 1 |
Synonyms |
AP-4 beta-4, 1810038H16Rik |
MMRRC Submission |
038513-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R0299 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 103717262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000200377]
[ENSMUST00000199710]
[ENSMUST00000198752]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000106832]
|
AlphaFold |
Q9WV76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029435
|
SMART Domains |
Protein: ENSMUSP00000029435 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
Pfam:DRMBL
|
215 |
301 |
1e-13 |
PFAM |
PDB:3BUA|H
|
492 |
526 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000047285
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044262 Gene: ENSMUSG00000032952 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
6 |
525 |
7e-94 |
PFAM |
Pfam:Cnd1
|
98 |
269 |
2.4e-11 |
PFAM |
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063502
|
SMART Domains |
Protein: ENSMUSP00000067695 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
49 |
4e-24 |
BLAST |
Pfam:DRMBL
|
89 |
176 |
7.4e-20 |
PFAM |
PDB:3BUA|H
|
366 |
400 |
8e-11 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000076599
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075904 Gene: ENSMUSG00000032952 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
6 |
525 |
1e-93 |
PFAM |
Pfam:Cnd1
|
98 |
286 |
3.9e-10 |
PFAM |
B2-adapt-app_C
|
619 |
731 |
3.75e-42 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106823
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102436 Gene: ENSMUSG00000032952 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
6 |
374 |
2e-68 |
PFAM |
Pfam:Cnd1
|
98 |
285 |
1.4e-10 |
PFAM |
Pfam:Adaptin_N
|
371 |
497 |
5.2e-16 |
PFAM |
B2-adapt-app_C
|
591 |
703 |
3.75e-42 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106824
AA Change: M1T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102437 Gene: ENSMUSG00000032952 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200377
AA Change: M1T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143355 Gene: ENSMUSG00000032952 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
7 |
357 |
2.9e-45 |
PFAM |
B2-adapt-app_C
|
451 |
563 |
2.8e-46 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199710
AA Change: M1T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143463 Gene: ENSMUSG00000105053 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Cnd1
|
35 |
212 |
5e-9 |
PFAM |
Pfam:Adaptin_N
|
35 |
450 |
1.2e-62 |
PFAM |
B2-adapt-app_C
|
544 |
656 |
3.75e-42 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198752
|
SMART Domains |
Protein: ENSMUSP00000143067 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
93 |
2e-64 |
BLAST |
PDB:3ZDK|A
|
1 |
97 |
1e-62 |
PDB |
SCOP:d1a7ta_
|
3 |
93 |
5e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106834
|
SMART Domains |
Protein: ENSMUSP00000102447 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
Pfam:DRMBL
|
215 |
302 |
7.9e-20 |
PFAM |
PDB:3BUA|H
|
492 |
526 |
1e-10 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128716
|
SMART Domains |
Protein: ENSMUSP00000121063 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
1 |
63 |
3e-40 |
BLAST |
PDB:3ZDK|A
|
1 |
63 |
3e-34 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106832
|
SMART Domains |
Protein: ENSMUSP00000102445 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
SMART |
|
Meta Mutation Damage Score |
0.9629 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.3%
- 20x: 90.1%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a null allele exhibit poor rotarod performance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
4933427I04Rik |
A |
T |
4: 123,754,615 (GRCm39) |
R176S |
possibly damaging |
Het |
A2ml1 |
T |
G |
6: 128,530,195 (GRCm39) |
|
probably benign |
Het |
Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
Clec2h |
T |
C |
6: 128,647,858 (GRCm39) |
V69A |
probably damaging |
Het |
Col15a1 |
A |
T |
4: 47,262,950 (GRCm39) |
D534V |
probably damaging |
Het |
Col16a1 |
TCCCC |
TCCC |
4: 129,952,111 (GRCm39) |
|
probably null |
Het |
Degs1 |
A |
T |
1: 182,106,836 (GRCm39) |
I141N |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,514,646 (GRCm39) |
R1424G |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
Frk |
T |
C |
10: 34,360,367 (GRCm39) |
|
probably null |
Het |
Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
Gm11596 |
G |
A |
11: 99,683,770 (GRCm39) |
P117S |
unknown |
Het |
Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
G |
6: 3,476,121 (GRCm39) |
L268P |
probably damaging |
Het |
Hps6 |
G |
A |
19: 45,992,671 (GRCm39) |
V203M |
probably damaging |
Het |
Hsd17b7 |
G |
A |
1: 169,787,363 (GRCm39) |
|
probably benign |
Het |
Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
Il1r2 |
T |
A |
1: 40,162,309 (GRCm39) |
Y317* |
probably null |
Het |
Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
Mecom |
A |
G |
3: 30,034,560 (GRCm39) |
L372P |
probably benign |
Het |
Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
Muc2 |
C |
T |
7: 141,306,466 (GRCm39) |
T296I |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,732 (GRCm39) |
M1K |
probably null |
Het |
Or10ak9 |
A |
G |
4: 118,726,613 (GRCm39) |
I212V |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
Pdcd10 |
T |
C |
3: 75,434,958 (GRCm39) |
K111R |
probably damaging |
Het |
Pdgfrb |
T |
A |
18: 61,201,924 (GRCm39) |
V496E |
probably benign |
Het |
Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
Plxnc1 |
C |
T |
10: 94,685,683 (GRCm39) |
|
probably null |
Het |
Ptpru |
G |
A |
4: 131,530,698 (GRCm39) |
Q519* |
probably null |
Het |
Pzp |
A |
G |
6: 128,472,293 (GRCm39) |
|
probably benign |
Het |
Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 59,007,383 (GRCm39) |
E289G |
probably benign |
Het |
Sik3 |
T |
C |
9: 46,120,038 (GRCm39) |
M659T |
possibly damaging |
Het |
Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
Suco |
G |
A |
1: 161,681,379 (GRCm39) |
T253I |
probably benign |
Het |
Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
Tram2 |
T |
C |
1: 21,074,468 (GRCm39) |
D238G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,964,237 (GRCm39) |
M1244T |
possibly damaging |
Het |
Trub1 |
A |
G |
19: 57,472,057 (GRCm39) |
T178A |
possibly damaging |
Het |
Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,955,494 (GRCm39) |
Q265L |
probably damaging |
Het |
Zfp821 |
G |
T |
8: 110,450,862 (GRCm39) |
R285L |
probably damaging |
Het |
|
Other mutations in Ap4b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Ap4b1
|
APN |
3 |
103,728,858 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01545:Ap4b1
|
APN |
3 |
103,720,143 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02422:Ap4b1
|
APN |
3 |
103,720,170 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02525:Ap4b1
|
APN |
3 |
103,720,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R0035:Ap4b1
|
UTSW |
3 |
103,727,980 (GRCm39) |
splice site |
probably benign |
|
R0035:Ap4b1
|
UTSW |
3 |
103,727,980 (GRCm39) |
splice site |
probably benign |
|
R0086:Ap4b1
|
UTSW |
3 |
103,722,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R0090:Ap4b1
|
UTSW |
3 |
103,727,745 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0136:Ap4b1
|
UTSW |
3 |
103,717,262 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R0403:Ap4b1
|
UTSW |
3 |
103,728,712 (GRCm39) |
missense |
probably benign |
0.00 |
R0403:Ap4b1
|
UTSW |
3 |
103,726,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R1283:Ap4b1
|
UTSW |
3 |
103,726,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Ap4b1
|
UTSW |
3 |
103,725,161 (GRCm39) |
critical splice donor site |
probably null |
|
R1797:Ap4b1
|
UTSW |
3 |
103,726,149 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1869:Ap4b1
|
UTSW |
3 |
103,728,184 (GRCm39) |
nonsense |
probably null |
|
R2925:Ap4b1
|
UTSW |
3 |
103,727,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3905:Ap4b1
|
UTSW |
3 |
103,726,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4079:Ap4b1
|
UTSW |
3 |
103,720,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Ap4b1
|
UTSW |
3 |
103,728,765 (GRCm39) |
missense |
probably benign |
0.32 |
R4786:Ap4b1
|
UTSW |
3 |
103,726,120 (GRCm39) |
missense |
probably benign |
0.00 |
R5824:Ap4b1
|
UTSW |
3 |
103,720,701 (GRCm39) |
missense |
probably benign |
0.30 |
R6342:Ap4b1
|
UTSW |
3 |
103,720,684 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6826:Ap4b1
|
UTSW |
3 |
103,720,224 (GRCm39) |
critical splice donor site |
probably null |
|
R6923:Ap4b1
|
UTSW |
3 |
103,719,530 (GRCm39) |
missense |
probably benign |
0.19 |
R6974:Ap4b1
|
UTSW |
3 |
103,720,601 (GRCm39) |
nonsense |
probably null |
|
R7409:Ap4b1
|
UTSW |
3 |
103,719,474 (GRCm39) |
missense |
probably damaging |
0.98 |
R7827:Ap4b1
|
UTSW |
3 |
103,722,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R8432:Ap4b1
|
UTSW |
3 |
103,728,135 (GRCm39) |
missense |
probably benign |
0.00 |
R8499:Ap4b1
|
UTSW |
3 |
103,728,018 (GRCm39) |
missense |
probably damaging |
0.98 |
R8504:Ap4b1
|
UTSW |
3 |
103,720,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R8897:Ap4b1
|
UTSW |
3 |
103,729,065 (GRCm39) |
missense |
probably benign |
|
R9138:Ap4b1
|
UTSW |
3 |
103,722,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Ap4b1
|
UTSW |
3 |
103,722,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTCCGCAGGAAGCTGTCTGG -3'
(R):5'- GTTCCACACGGAAGACTGAGATGAC -3'
Sequencing Primer
(F):5'- GGCCACTGGGACTAGATTC -3'
(R):5'- TCTGAAGAGGATTAAAAGTggggc -3'
|
Posted On |
2013-04-16 |