Incidental Mutation 'R6637:Ap4m1'
| ID |
525522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4m1
|
| Ensembl Gene |
ENSMUSG00000019518 |
| Gene Name |
adaptor-related protein complex AP-4, mu 1 |
| Synonyms |
4930443L05Rik |
| MMRRC Submission |
044758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 138170437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000139983]
[ENSMUST00000151318]
[ENSMUST00000153867]
[ENSMUST00000148879]
[ENSMUST00000155902]
[ENSMUST00000147920]
[ENSMUST00000148094]
[ENSMUST00000143241]
|
| AlphaFold |
Q9JKC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000505
|
| SMART Domains |
Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
48 |
132 |
1e-41 |
BLAST |
|
MCM
|
145 |
642 |
N/A |
SMART |
|
AAA
|
373 |
526 |
2.9e-4 |
SMART |
|
Blast:MCM
|
658 |
719 |
1e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019662
|
| SMART Domains |
Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5m2
|
1 |
142 |
2e-49 |
SMART |
|
Pfam:Adap_comp_sub
|
173 |
449 |
2.5e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139983
|
| SMART Domains |
Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151318
|
| SMART Domains |
Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153867
|
| SMART Domains |
Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
9.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148879
|
| SMART Domains |
Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
48 |
132 |
6e-44 |
BLAST |
|
MCM
|
145 |
389 |
1.77e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155902
|
| SMART Domains |
Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148094
|
| SMART Domains |
Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
1 |
25 |
4e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143241
|
| SMART Domains |
Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5m2
|
1 |
86 |
2e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Adh1 |
T |
A |
3: 137,988,231 (GRCm39) |
C98* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
| Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Lrrc8b |
A |
C |
5: 105,628,137 (GRCm39) |
D161A |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
| Lsamp |
T |
A |
16: 41,353,743 (GRCm39) |
V2D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
probably damaging |
Het |
|
| Other mutations in Ap4m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01918:Ap4m1
|
APN |
5 |
138,171,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03087:Ap4m1
|
APN |
5 |
138,173,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0227:Ap4m1
|
UTSW |
5 |
138,174,538 (GRCm39) |
unclassified |
probably benign |
|
|
R0394:Ap4m1
|
UTSW |
5 |
138,170,465 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0639:Ap4m1
|
UTSW |
5 |
138,174,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4226:Ap4m1
|
UTSW |
5 |
138,171,079 (GRCm39) |
nonsense |
probably null |
|
|
R4357:Ap4m1
|
UTSW |
5 |
138,171,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Ap4m1
|
UTSW |
5 |
138,176,632 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5585:Ap4m1
|
UTSW |
5 |
138,170,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5631:Ap4m1
|
UTSW |
5 |
138,173,051 (GRCm39) |
makesense |
probably null |
|
|
R5691:Ap4m1
|
UTSW |
5 |
138,170,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Ap4m1
|
UTSW |
5 |
138,176,358 (GRCm39) |
missense |
probably benign |
|
|
R6636:Ap4m1
|
UTSW |
5 |
138,170,437 (GRCm39) |
unclassified |
probably benign |
|
|
R7326:Ap4m1
|
UTSW |
5 |
138,173,281 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7730:Ap4m1
|
UTSW |
5 |
138,171,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7814:Ap4m1
|
UTSW |
5 |
138,173,079 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8836:Ap4m1
|
UTSW |
5 |
138,173,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8859:Ap4m1
|
UTSW |
5 |
138,174,185 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9119:Ap4m1
|
UTSW |
5 |
138,174,303 (GRCm39) |
unclassified |
probably benign |
|
|
R9233:Ap4m1
|
UTSW |
5 |
138,176,653 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Ap4m1
|
UTSW |
5 |
138,175,445 (GRCm39) |
nonsense |
probably null |
|
|
R9665:Ap4m1
|
UTSW |
5 |
138,171,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0062:Ap4m1
|
UTSW |
5 |
138,176,573 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2018-06-22 |
Incidental Mutation