Incidental Mutation 'R8504:Ap4b1'
| ID |
655451 |
| 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 |
067840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103720116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 121
(I121N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000106834]
[ENSMUST00000128716]
[ENSMUST00000198752]
[ENSMUST00000199710]
[ENSMUST00000200377]
|
| 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: I121N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: I121N
| 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: I121N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: I121N
| 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: I121N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: I121N
| 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: I46N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: I46N
| 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 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 |
|
| 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 damaging
Transcript: ENSMUST00000199710
AA Change: I46N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: I46N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,922,983 (GRCm39) |
S1181P |
probably benign |
Het |
| Acvr1c |
C |
T |
2: 58,173,491 (GRCm39) |
C337Y |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,757,840 (GRCm39) |
E758G |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,841,493 (GRCm39) |
D37E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,222,776 (GRCm39) |
H445L |
probably benign |
Het |
| Arhgdia |
T |
C |
11: 120,470,354 (GRCm39) |
K135E |
probably benign |
Het |
| Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
| Atp8a2 |
A |
C |
14: 59,885,366 (GRCm39) |
Y1119* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,959,000 (GRCm39) |
M3839K |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,365,370 (GRCm39) |
H2171R |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,224,545 (GRCm39) |
D183E |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,274,618 (GRCm39) |
T491S |
probably benign |
Het |
| Cercam |
T |
C |
2: 29,771,829 (GRCm39) |
S550P |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,723,472 (GRCm39) |
H1019R |
unknown |
Het |
| Coil |
A |
T |
11: 88,871,980 (GRCm39) |
K114* |
probably null |
Het |
| Csmd2 |
A |
C |
4: 128,440,483 (GRCm39) |
T3183P |
|
Het |
| Cul9 |
T |
C |
17: 46,814,506 (GRCm39) |
Y2219C |
probably damaging |
Het |
| Efhd2 |
G |
A |
4: 141,587,186 (GRCm39) |
Q199* |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,785,360 (GRCm39) |
S499R |
probably benign |
Het |
| Exoc8 |
T |
G |
8: 125,622,709 (GRCm39) |
I553L |
probably benign |
Het |
| Fyco1 |
C |
A |
9: 123,659,142 (GRCm39) |
V345L |
probably benign |
Het |
| Galr3 |
T |
A |
15: 78,927,279 (GRCm39) |
V240E |
probably damaging |
Het |
| Gm21190 |
A |
G |
5: 15,730,862 (GRCm39) |
S165P |
probably benign |
Het |
| Gnal |
T |
A |
18: 67,350,255 (GRCm39) |
Y372* |
probably null |
Het |
| H2-DMa |
A |
G |
17: 34,357,416 (GRCm39) |
N230D |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,721,847 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,544 (GRCm39) |
I16F |
possibly damaging |
Het |
| Ivl |
T |
C |
3: 92,480,078 (GRCm39) |
|
probably benign |
Het |
| Klhl8 |
G |
A |
5: 104,015,814 (GRCm39) |
T434M |
probably benign |
Het |
| Lct |
A |
T |
1: 128,215,306 (GRCm39) |
S1757T |
probably damaging |
Het |
| Lmbr1l |
T |
A |
15: 98,810,065 (GRCm39) |
Y132F |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,293,029 (GRCm39) |
V203A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,284,476 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
T |
7: 141,360,892 (GRCm39) |
D1401V |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,786 (GRCm39) |
S291P |
probably damaging |
Het |
| Nynrin |
G |
C |
14: 56,107,703 (GRCm39) |
V937L |
probably benign |
Het |
| Or5d44 |
C |
T |
2: 88,141,825 (GRCm39) |
G105D |
probably benign |
Het |
| Or5m3 |
T |
G |
2: 85,838,149 (GRCm39) |
F10V |
probably damaging |
Het |
| Pank2 |
A |
G |
2: 131,135,320 (GRCm39) |
N386S |
probably benign |
Het |
| Phkg2 |
G |
T |
7: 127,181,528 (GRCm39) |
R237L |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,590,432 (GRCm39) |
V1772I |
probably benign |
Het |
| Plch2 |
G |
T |
4: 155,068,852 (GRCm39) |
P1258Q |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,764 (GRCm39) |
I77N |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,176,936 (GRCm39) |
T954A |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,015,273 (GRCm39) |
V325A |
probably damaging |
Het |
| Rgs10 |
A |
T |
7: 128,019,793 (GRCm39) |
S16T |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,722 (GRCm39) |
V398E |
probably benign |
Het |
| Selenot |
A |
G |
3: 58,492,698 (GRCm39) |
I62V |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,092 (GRCm39) |
C173S |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,275,999 (GRCm39) |
T249K |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,701,171 (GRCm39) |
V741D |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Sycp2l |
T |
G |
13: 41,291,390 (GRCm39) |
L256R |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,585,038 (GRCm39) |
D266G |
probably benign |
Het |
| Tektl1 |
T |
C |
10: 78,586,463 (GRCm39) |
D196G |
probably damaging |
Het |
| Top2a |
C |
T |
11: 98,905,567 (GRCm39) |
V337I |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,388,139 (GRCm39) |
L1160P |
probably damaging |
Het |
| Unc13a |
A |
C |
8: 72,098,405 (GRCm39) |
F1127V |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,992,393 (GRCm39) |
Q435* |
probably null |
Het |
| Zc3h7b |
T |
G |
15: 81,664,719 (GRCm39) |
L526R |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,705,127 (GRCm39) |
T48K |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,303,243 (GRCm39) |
S1580R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,583,549 (GRCm39) |
I1139V |
possibly damaging |
Het |
| Zfp536 |
C |
A |
7: 37,179,492 (GRCm39) |
V1038L |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,947 (GRCm39) |
V166E |
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,883 (GRCm39) |
K250N |
possibly 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 |
|
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 |
|
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'- GGTGTGCAGCATCATTACAG -3'
(R):5'- CAAATGGGCACGCATCTTATTTAG -3'
Sequencing Primer
(F):5'- GTTTGATAGAGGCTTTCTCCAATTTC -3'
(R):5'- GGGCACGCATCTTATTTAGAAAAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation