Incidental Mutation 'R5248:Ap4e1'
| ID |
398616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4e1
|
| Ensembl Gene |
ENSMUSG00000001998 |
| Gene Name |
adaptor-related protein complex AP-4, epsilon 1 |
| Synonyms |
2310033A20Rik |
| MMRRC Submission |
042819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R5248 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126850637-126909829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126906842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1034
(A1034V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002063]
[ENSMUST00000142740]
[ENSMUST00000177372]
|
| AlphaFold |
Q80V94 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002063
AA Change: A1034V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: A1034V
| 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 |
probably benign
Transcript: ENSMUST00000142740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177372
|
| SMART Domains |
Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
51 |
291 |
2.5e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
| Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
| Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
| Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
| Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
| Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
| Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
| Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
| Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
| Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
| Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
| Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
| Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
probably damaging |
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 |
|
R5363:Ap4e1
|
UTSW |
2 |
126,879,784 (GRCm39) |
splice site |
probably null |
|
|
R5507:Ap4e1
|
UTSW |
2 |
126,850,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGCATGAATCTCTGTGACCC -3'
(R):5'- TCCTTAATACAGTCTGGAAACACAC -3'
Sequencing Primer
(F):5'- TGTGACCCAGGCTTACAATG -3'
(R):5'- GGGCTGCCGTTTCTTAAT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation