Incidental Mutation 'IGL02525:Ap4b1'
ID |
297063 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ap4b1
|
Ensembl Gene |
ENSMUSG00000032952 |
Gene Name |
adaptor-related protein complex AP-4, beta 1 |
Synonyms |
AP-4 beta-4, 1810038H16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
IGL02525
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 103720164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 62
(R62K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000199710]
[ENSMUST00000200377]
[ENSMUST00000128716]
[ENSMUST00000198752]
[ENSMUST00000106834]
|
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 damaging
Transcript: ENSMUST00000047285
AA Change: R137K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044262 Gene: ENSMUSG00000032952 AA Change: R137K
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 damaging
Transcript: ENSMUST00000076599
AA Change: R137K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075904 Gene: ENSMUSG00000032952 AA Change: R137K
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 damaging
Transcript: ENSMUST00000106823
AA Change: R137K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102436 Gene: ENSMUSG00000032952 AA Change: R137K
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 damaging
Transcript: ENSMUST00000106824
AA Change: R62K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102437 Gene: ENSMUSG00000032952 AA Change: R62K
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 damaging
Transcript: ENSMUST00000199710
AA Change: R62K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143463 Gene: ENSMUSG00000105053 AA Change: R62K
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: ENSMUST00000199723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149374
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200377
|
SMART Domains |
Protein: ENSMUSP00000143355 Gene: ENSMUSG00000032952
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 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: 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: ENSMUST00000199686
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
T |
8: 25,101,060 (GRCm39) |
V701I |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,131,783 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,180,959 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
G |
T |
17: 43,760,854 (GRCm39) |
V850F |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,919,070 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Ccdc12 |
T |
A |
9: 110,540,169 (GRCm39) |
D120E |
probably damaging |
Het |
Ccdc22 |
A |
G |
X: 7,461,249 (GRCm39) |
S529P |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,067,675 (GRCm39) |
K390E |
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,355 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,344,743 (GRCm39) |
Q138L |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,046,800 (GRCm39) |
F1091L |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,027,790 (GRCm39) |
V682M |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,877,538 (GRCm39) |
D404N |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,346,962 (GRCm39) |
V402A |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,027,634 (GRCm39) |
H268R |
probably benign |
Het |
Ermard |
T |
C |
17: 15,279,601 (GRCm39) |
|
probably benign |
Het |
Fam43a |
A |
G |
16: 30,419,596 (GRCm39) |
K60R |
probably benign |
Het |
Frmd4b |
T |
A |
6: 97,389,494 (GRCm39) |
D78V |
probably damaging |
Het |
Gabrq |
A |
G |
X: 71,880,430 (GRCm39) |
T308A |
possibly damaging |
Het |
Gipr |
A |
G |
7: 18,893,690 (GRCm39) |
C328R |
possibly damaging |
Het |
Gm17078 |
T |
C |
14: 51,848,680 (GRCm39) |
N19S |
possibly damaging |
Het |
Gm17541 |
T |
C |
12: 4,739,907 (GRCm39) |
|
probably benign |
Het |
Gm21759 |
T |
C |
5: 8,229,967 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
A |
G |
7: 83,405,250 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
A |
G |
16: 11,048,854 (GRCm39) |
V318A |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,319 (GRCm39) |
S526G |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,718,643 (GRCm39) |
M1T |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,301,757 (GRCm39) |
D145G |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,021,777 (GRCm39) |
D886G |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,962,200 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
G |
3: 58,975,789 (GRCm39) |
K239R |
probably benign |
Het |
Milr1 |
A |
T |
11: 106,656,101 (GRCm39) |
M124L |
probably benign |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Mterf1a |
G |
A |
5: 3,941,583 (GRCm39) |
S95F |
probably benign |
Het |
Myef2 |
C |
A |
2: 124,955,978 (GRCm39) |
|
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,325,812 (GRCm39) |
I1085N |
possibly damaging |
Het |
Or13f5 |
A |
T |
4: 52,825,616 (GRCm39) |
Y73F |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,536 (GRCm39) |
M42K |
possibly damaging |
Het |
Prodh |
G |
A |
16: 17,890,332 (GRCm39) |
Q430* |
probably null |
Het |
Pstk |
G |
T |
7: 130,972,922 (GRCm39) |
R7L |
probably benign |
Het |
Ptgr1 |
C |
A |
4: 58,978,067 (GRCm39) |
E108D |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,944,009 (GRCm39) |
Y294* |
probably null |
Het |
Rnls |
C |
T |
19: 33,115,614 (GRCm39) |
V153M |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 51,992,138 (GRCm39) |
T1362A |
possibly damaging |
Het |
Samt3 |
G |
A |
X: 85,090,527 (GRCm39) |
A140T |
possibly damaging |
Het |
Sbpl |
T |
A |
17: 24,173,837 (GRCm39) |
M16L |
unknown |
Het |
Sephs1 |
G |
A |
2: 4,911,407 (GRCm39) |
C327Y |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,137,135 (GRCm39) |
I93N |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,551,051 (GRCm39) |
|
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,152,860 (GRCm39) |
S93P |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,798,461 (GRCm39) |
S1444P |
probably damaging |
Het |
Spmap2l |
T |
A |
5: 77,164,400 (GRCm39) |
D134E |
probably benign |
Het |
Stk32b |
C |
T |
5: 37,688,977 (GRCm39) |
V116M |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,018,372 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,147,777 (GRCm39) |
S6439T |
probably damaging |
Het |
Taar7d |
A |
G |
10: 23,903,994 (GRCm39) |
D292G |
possibly damaging |
Het |
Tal2 |
A |
T |
4: 53,785,971 (GRCm39) |
I51F |
probably damaging |
Het |
Tk2 |
A |
T |
8: 104,970,032 (GRCm39) |
N77K |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,865 (GRCm39) |
|
probably benign |
Het |
Tnfrsf10b |
T |
C |
14: 70,019,825 (GRCm39) |
M319T |
probably damaging |
Het |
Trim24 |
A |
G |
6: 37,922,653 (GRCm39) |
R417G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,594,658 (GRCm39) |
G18717* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,901,447 (GRCm39) |
T525A |
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wnt3 |
C |
T |
11: 103,703,296 (GRCm39) |
R260W |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,731 (GRCm39) |
T218A |
probably benign |
Het |
Znfx1 |
C |
T |
2: 166,879,457 (GRCm39) |
E776K |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |