Incidental Mutation 'R6636:Ap4m1'
ID |
525452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap4m1
|
Ensembl Gene |
ENSMUSG00000019518 |
Gene Name |
adaptor-related protein complex AP-4, mu 1 |
Synonyms |
4930443L05Rik |
MMRRC Submission |
044757-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6636 (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 |
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 |
noncoding transcript
Transcript: ENSMUST00000142687
|
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: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (41/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
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 |
Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
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 |
Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
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 |
Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
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 |
|
R6637: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 |