Incidental Mutation 'R0035:Ap4b1'
| ID |
15375 |
| 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 |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 103727980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047285]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
| AlphaFold |
Q9WV76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047285
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
| 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: ENSMUST00000076599
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
| 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 benign
Transcript: ENSMUST00000106823
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
| 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 benign
Transcript: ENSMUST00000106824
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
| 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: ENSMUST00000199686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199710
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
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 |
|
|
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 |
2012-12-17 |
Incidental Mutation