Incidental Mutation 'R5824:Ap4b1'
| ID |
450061 |
| 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 |
043216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103716836-103729341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103720701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 124
(I124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029435]
[ENSMUST00000047285]
[ENSMUST00000063502]
[ENSMUST00000076599]
[ENSMUST00000106823]
[ENSMUST00000106824]
[ENSMUST00000106832]
[ENSMUST00000199710]
[ENSMUST00000106834]
[ENSMUST00000128716]
[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 benign
Transcript: ENSMUST00000047285
AA Change: I199F
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: I199F
| 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 benign
Transcript: ENSMUST00000076599
AA Change: I199F
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: I199F
| 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
AA Change: I199F
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: I199F
| 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
AA Change: I124F
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: I124F
| 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: ENSMUST00000199710
AA Change: I124F
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: I124F
| 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: ENSMUST00000149374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147894
|
| 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: 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: ENSMUST00000199686
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
| Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
| Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
| Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
| Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
| Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
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 |
|
|
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 |
|
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'- TTTGTCTGGCCAGAGCTGTTAC -3'
(R):5'- TCCACAGCATGTTCCTACTG -3'
Sequencing Primer
(F):5'- AGAGCTGTTACTCTGGTTCTGTCAC -3'
(R):5'- CATACACAGTAATAAAGGAAGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation