Incidental Mutation 'R0086:Ap4b1'
| ID |
19883 |
| 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 |
038373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R0086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 103722176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 50
(V50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047285]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
| AlphaFold |
Q9WV76 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047285
AA Change: V218G
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: V218G
| 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 |
possibly damaging
Transcript: ENSMUST00000076599
AA Change: V218G
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: V218G
| 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: V218G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: V218G
| 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 |
possibly damaging
Transcript: ENSMUST00000106824
AA Change: V143G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: V143G
| 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 |
possibly damaging
Transcript: ENSMUST00000199710
AA Change: V143G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: V143G
| 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 |
probably damaging
Transcript: ENSMUST00000200377
AA Change: V50G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: V50G
| 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 |
0.6330 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
| Validation Efficiency |
96% (91/95) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,946,802 (GRCm39) |
V233D |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 85,000,199 (GRCm39) |
V252A |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,279,397 (GRCm39) |
T596I |
possibly damaging |
Het |
| Agap2 |
C |
A |
10: 126,923,751 (GRCm39) |
|
probably null |
Het |
| Atp13a1 |
T |
A |
8: 70,250,424 (GRCm39) |
I381N |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,900,161 (GRCm39) |
V1113A |
possibly damaging |
Het |
| C1galt1 |
T |
A |
6: 7,867,051 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,660,773 (GRCm39) |
K158E |
probably damaging |
Het |
| Cenpe |
C |
T |
3: 134,970,185 (GRCm39) |
|
probably benign |
Het |
| Cercam |
T |
C |
2: 29,761,076 (GRCm39) |
L42P |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,864,456 (GRCm39) |
E807G |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,900,991 (GRCm39) |
V157A |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,344,271 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,499,357 (GRCm39) |
I15F |
unknown |
Het |
| Dock7 |
A |
T |
4: 98,833,381 (GRCm39) |
V1970D |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,249,230 (GRCm39) |
D73G |
possibly damaging |
Het |
| Gjc2 |
A |
T |
11: 59,067,672 (GRCm39) |
M270K |
probably benign |
Het |
| Gns |
G |
A |
10: 121,227,378 (GRCm39) |
D463N |
probably damaging |
Het |
| Hoxd8 |
G |
T |
2: 74,536,276 (GRCm39) |
G129W |
probably damaging |
Het |
| Ina |
A |
G |
19: 47,012,030 (GRCm39) |
T483A |
possibly damaging |
Het |
| Lmod3 |
T |
A |
6: 97,224,306 (GRCm39) |
Q505L |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,732,975 (GRCm39) |
N526D |
probably damaging |
Het |
| Map3k2 |
A |
T |
18: 32,351,521 (GRCm39) |
I435F |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,391 (GRCm39) |
T81A |
probably benign |
Het |
| Micall1 |
T |
C |
15: 79,009,689 (GRCm39) |
|
probably benign |
Het |
| Mkrn2 |
G |
T |
6: 115,590,296 (GRCm39) |
M217I |
possibly damaging |
Het |
| Mtrex |
G |
T |
13: 113,063,862 (GRCm39) |
F10L |
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,834,086 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,257,972 (GRCm39) |
C530Y |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,842,704 (GRCm39) |
T442A |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,448,410 (GRCm39) |
|
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,417,462 (GRCm39) |
I13F |
possibly damaging |
Het |
| Or4c119 |
C |
T |
2: 88,986,820 (GRCm39) |
R233H |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,261 (GRCm39) |
I216T |
probably benign |
Het |
| Or8g22 |
T |
C |
9: 38,958,191 (GRCm39) |
T175A |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,832 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,419,404 (GRCm39) |
N2956K |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,754,742 (GRCm39) |
W1030R |
probably damaging |
Het |
| Polr2i |
G |
A |
7: 29,932,511 (GRCm39) |
V73M |
probably damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,903 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
G |
T |
12: 30,052,418 (GRCm39) |
R865L |
possibly damaging |
Het |
| Scnn1a |
T |
C |
6: 125,319,550 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,051,451 (GRCm39) |
H203N |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 119,051,804 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,100 (GRCm39) |
T240K |
probably damaging |
Het |
| Sp2 |
C |
A |
11: 96,848,253 (GRCm39) |
G457C |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,484,187 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,910,753 (GRCm39) |
C297* |
probably null |
Het |
| Tpm3 |
T |
A |
3: 89,997,399 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
CTG |
C |
2: 132,650,937 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,689,837 (GRCm39) |
Y431H |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,566,886 (GRCm39) |
C376S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Ulk1 |
G |
A |
5: 110,935,573 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,249,557 (GRCm39) |
S1425P |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,191,433 (GRCm39) |
I1335V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,058 (GRCm39) |
Y352H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCTTTGTTGTGGAATGTAAAGCCC -3'
(R):5'- ACCTGGCAAACTGTGCAAGACC -3'
Sequencing Primer
(F):5'- TGTGGAATGTAAAGCCCTTTTC -3'
(R):5'- AGCTCACGGCTCTCTGAAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation