Incidental Mutation 'R4079:Ap4b1'
| ID |
316737 |
| 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 |
040976-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R4079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103720694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 121
(N121K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000199710]
[ENSMUST00000200377]
[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 damaging
Transcript: ENSMUST00000047285
AA Change: N196K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: N196K
| 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: N196K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: N196K
| 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: N196K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: N196K
| 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: N121K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: N121K
| 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: N121K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: N121K
| 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: ENSMUST00000149374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199686
|
| 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: 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 |
0.7193 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
C |
G |
4: 126,247,473 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
C |
A |
11: 72,580,835 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
| Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
| Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
| Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
| F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
| Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
| Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
| Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,634 (GRCm39) |
N364S |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,806,123 (GRCm39) |
Y323H |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
| Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
| Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
| Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
| Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
| Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,510 (GRCm39) |
S693P |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
| Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
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 |
|
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 |
|
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'- TTGTCTGGCCAGAGCTGTTAC -3'
(R):5'- TCCACAGCATGTTCCTACTG -3'
Sequencing Primer
(F):5'- AGAGCTGTTACTCTGGTTCTGTCAC -3'
(R):5'- AGGAAGGCTTAGTTTAATGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation