Incidental Mutation 'R0136:Ap4b1'
ID |
21932 |
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 |
038421-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R0136 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
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]
[ENSMUST00000106832]
[ENSMUST00000200377]
[ENSMUST00000199710]
[ENSMUST00000198752]
[ENSMUST00000106834]
[ENSMUST00000128716]
|
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 benign
Transcript: ENSMUST00000106832
|
SMART Domains |
Protein: ENSMUSP00000102445 Gene: ENSMUSG00000027845
Domain | Start | End | E-Value | Type |
Lactamase_B
|
1 |
175 |
2.06e0 |
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 |
|
Meta Mutation Damage Score |
0.9629 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
89% (56/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arg2 |
T |
C |
12: 79,196,780 (GRCm39) |
L167P |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,732,298 (GRCm39) |
V1949A |
probably benign |
Het |
Bcl3 |
A |
G |
7: 19,543,494 (GRCm39) |
V324A |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,163,426 (GRCm39) |
S1479P |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,025 (GRCm39) |
S64N |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,914,843 (GRCm39) |
L153P |
probably damaging |
Het |
Crat |
C |
A |
2: 30,297,042 (GRCm39) |
V304L |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,710,527 (GRCm39) |
T1687A |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
Fau |
T |
C |
19: 6,109,210 (GRCm39) |
V86A |
possibly damaging |
Het |
Garem1 |
T |
G |
18: 21,263,048 (GRCm39) |
S589R |
probably damaging |
Het |
Gbp3 |
T |
G |
3: 142,269,862 (GRCm39) |
|
probably null |
Het |
Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
Gtf2h1 |
A |
T |
7: 46,464,840 (GRCm39) |
Q419L |
possibly damaging |
Het |
Hipk3 |
A |
G |
2: 104,269,638 (GRCm39) |
I517T |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
Hnrnpk |
G |
T |
13: 58,542,991 (GRCm39) |
D211E |
probably benign |
Het |
Hnrnpul2 |
T |
C |
19: 8,804,165 (GRCm39) |
L588P |
probably damaging |
Het |
Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,752,159 (GRCm39) |
|
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,130,424 (GRCm39) |
|
probably null |
Het |
Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
Med13l |
A |
G |
5: 118,862,115 (GRCm39) |
T353A |
probably benign |
Het |
Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
Mlxip |
T |
A |
5: 123,580,369 (GRCm39) |
W211R |
probably damaging |
Het |
Morc2a |
T |
G |
11: 3,635,907 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
Ndufa10 |
A |
T |
1: 92,390,850 (GRCm39) |
Y233* |
probably null |
Het |
Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,012,880 (GRCm39) |
K404E |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,149,870 (GRCm39) |
E352* |
probably null |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,315 (GRCm39) |
*312Q |
probably null |
Het |
Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
Pnpla3 |
G |
A |
15: 84,058,679 (GRCm39) |
|
probably null |
Het |
Pramel1 |
C |
A |
4: 143,124,016 (GRCm39) |
N230K |
probably damaging |
Het |
Psg20 |
A |
C |
7: 18,416,432 (GRCm39) |
L228R |
probably damaging |
Het |
Rsph10b |
T |
C |
5: 143,896,639 (GRCm39) |
F44L |
probably benign |
Het |
Septin2 |
G |
A |
1: 93,434,772 (GRCm39) |
G358R |
possibly damaging |
Het |
Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,428,583 (GRCm39) |
D297G |
probably damaging |
Het |
Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
Slc22a1 |
A |
T |
17: 12,881,483 (GRCm39) |
F335L |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,039,345 (GRCm39) |
N216S |
probably damaging |
Het |
Snrnp27 |
T |
C |
6: 86,653,187 (GRCm39) |
S144G |
probably benign |
Het |
Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
Spata24 |
T |
C |
18: 35,793,515 (GRCm39) |
K99R |
probably damaging |
Het |
Taar5 |
A |
G |
10: 23,847,607 (GRCm39) |
Y335C |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,306,346 (GRCm39) |
H1540R |
probably benign |
Het |
Vmn1r27 |
A |
G |
6: 58,192,704 (GRCm39) |
F100S |
possibly damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,220,782 (GRCm39) |
Y360* |
probably null |
Het |
Ybx1 |
C |
A |
4: 119,139,551 (GRCm39) |
R36L |
possibly damaging |
Het |
Zfp369 |
A |
G |
13: 65,445,016 (GRCm39) |
K720E |
probably benign |
Het |
Zfp599 |
A |
G |
9: 22,161,038 (GRCm39) |
S376P |
probably benign |
Het |
Zic2 |
A |
G |
14: 122,713,953 (GRCm39) |
E289G |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
probably benign |
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 |
R0299: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 |
2013-04-12 |