Incidental Mutation 'R5507:Ap4e1'
| ID |
484495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4e1
|
| Ensembl Gene |
ENSMUSG00000001998 |
| Gene Name |
adaptor-related protein complex AP-4, epsilon 1 |
| Synonyms |
2310033A20Rik |
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
38 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126850637-126909829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126850818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 49
(H49N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002063]
[ENSMUST00000110393]
[ENSMUST00000110394]
[ENSMUST00000175663]
[ENSMUST00000177372]
|
| AlphaFold |
Q80V94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002063
AA Change: H49N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: H49N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
51 |
600 |
5.9e-90 |
PFAM |
|
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
|
AP4E_app_platf
|
1017 |
1120 |
4.2e-51 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110393
AA Change: H49N
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110394
AA Change: H49N
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106024
Gene: ENSMUSG00000001998
AA Change: H49N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
51 |
392 |
2.4e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149254
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175663
AA Change: H49N
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135599
Gene: ENSMUSG00000001998
AA Change: H49N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
51 |
355 |
1.3e-59 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177372
AA Change: H49N
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998
AA Change: H49N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
51 |
291 |
2.5e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.1282 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
probably benign |
Het |
|
| Other mutations in Ap4e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Ap4e1
|
APN |
2 |
126,870,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00423:Ap4e1
|
APN |
2 |
126,870,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00659:Ap4e1
|
APN |
2 |
126,905,221 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01155:Ap4e1
|
APN |
2 |
126,885,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01672:Ap4e1
|
APN |
2 |
126,894,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Ap4e1
|
APN |
2 |
126,888,830 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01940:Ap4e1
|
APN |
2 |
126,885,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02131:Ap4e1
|
APN |
2 |
126,903,849 (GRCm39) |
missense |
probably benign |
|
|
IGL02207:Ap4e1
|
APN |
2 |
126,853,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Ap4e1
|
APN |
2 |
126,905,317 (GRCm39) |
missense |
probably benign |
0.18 |
|
quickstep
|
UTSW |
2 |
126,850,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
K7371:Ap4e1
|
UTSW |
2 |
126,908,456 (GRCm39) |
unclassified |
probably benign |
|
|
R0090:Ap4e1
|
UTSW |
2 |
126,906,905 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0420:Ap4e1
|
UTSW |
2 |
126,891,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Ap4e1
|
UTSW |
2 |
126,888,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Ap4e1
|
UTSW |
2 |
126,891,200 (GRCm39) |
nonsense |
probably null |
|
|
R0670:Ap4e1
|
UTSW |
2 |
126,853,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0698:Ap4e1
|
UTSW |
2 |
126,905,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1183:Ap4e1
|
UTSW |
2 |
126,856,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1338:Ap4e1
|
UTSW |
2 |
126,888,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ap4e1
|
UTSW |
2 |
126,903,475 (GRCm39) |
missense |
probably null |
1.00 |
|
R1528:Ap4e1
|
UTSW |
2 |
126,853,743 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1994:Ap4e1
|
UTSW |
2 |
126,903,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2270:Ap4e1
|
UTSW |
2 |
126,889,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2271:Ap4e1
|
UTSW |
2 |
126,889,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3108:Ap4e1
|
UTSW |
2 |
126,898,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4019:Ap4e1
|
UTSW |
2 |
126,903,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4020:Ap4e1
|
UTSW |
2 |
126,903,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4454:Ap4e1
|
UTSW |
2 |
126,889,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Ap4e1
|
UTSW |
2 |
126,903,791 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4767:Ap4e1
|
UTSW |
2 |
126,902,358 (GRCm39) |
missense |
probably benign |
|
|
R4803:Ap4e1
|
UTSW |
2 |
126,891,479 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4804:Ap4e1
|
UTSW |
2 |
126,885,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5155:Ap4e1
|
UTSW |
2 |
126,905,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5157:Ap4e1
|
UTSW |
2 |
126,903,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5248:Ap4e1
|
UTSW |
2 |
126,906,842 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5363:Ap4e1
|
UTSW |
2 |
126,879,784 (GRCm39) |
splice site |
probably null |
|
|
R5642:Ap4e1
|
UTSW |
2 |
126,906,899 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6122:Ap4e1
|
UTSW |
2 |
126,870,080 (GRCm39) |
splice site |
probably null |
|
|
R6180:Ap4e1
|
UTSW |
2 |
126,908,508 (GRCm39) |
nonsense |
probably null |
|
|
R6298:Ap4e1
|
UTSW |
2 |
126,889,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Ap4e1
|
UTSW |
2 |
126,903,636 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6543:Ap4e1
|
UTSW |
2 |
126,908,525 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6954:Ap4e1
|
UTSW |
2 |
126,906,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7144:Ap4e1
|
UTSW |
2 |
126,853,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Ap4e1
|
UTSW |
2 |
126,905,238 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7348:Ap4e1
|
UTSW |
2 |
126,903,897 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7348:Ap4e1
|
UTSW |
2 |
126,903,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7382:Ap4e1
|
UTSW |
2 |
126,850,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7571:Ap4e1
|
UTSW |
2 |
126,861,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Ap4e1
|
UTSW |
2 |
126,888,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Ap4e1
|
UTSW |
2 |
126,877,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Ap4e1
|
UTSW |
2 |
126,861,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Ap4e1
|
UTSW |
2 |
126,903,588 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9701:Ap4e1
|
UTSW |
2 |
126,875,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0060:Ap4e1
|
UTSW |
2 |
126,905,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Ap4e1
|
UTSW |
2 |
126,903,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGCCGGAAGTGACTACG -3'
(R):5'- GCTCATGTAATCCTCAAAGCAC -3'
Sequencing Primer
(F):5'- CGGAAGTGACTACGGAGGCC -3'
(R):5'- TGTAATCCTCAAAGCACCCCATGAG -3'
|
| Posted On |
2017-07-24 |
Incidental Mutation