Incidental Mutation 'IGL01918:Ap4m1'
| ID |
179995 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap4m1
|
| Ensembl Gene |
ENSMUSG00000019518 |
| Gene Name |
adaptor-related protein complex AP-4, mu 1 |
| Synonyms |
4930443L05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01918
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138171106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 69
(T69A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000139983]
[ENSMUST00000151318]
[ENSMUST00000143241]
[ENSMUST00000148879]
[ENSMUST00000155902]
[ENSMUST00000148094]
[ENSMUST00000153867]
[ENSMUST00000147920]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000019662
AA Change: T69A
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: T69A
| 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 |
possibly damaging
Transcript: ENSMUST00000151318
AA Change: T83A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143241
AA Change: T69A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518
AA Change: T69A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5m2
|
1 |
86 |
2e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
| 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 |
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: 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: ENSMUST00000147920
|
| Coding Region Coverage |
|
| 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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,098 (GRCm39) |
Q71R |
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,631,281 (GRCm39) |
V409A |
probably benign |
Het |
| B3gat2 |
A |
T |
1: 23,884,209 (GRCm39) |
K306* |
probably null |
Het |
| Calr |
A |
G |
8: 85,569,479 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
C |
T |
16: 50,411,215 (GRCm39) |
W17* |
probably null |
Het |
| Cd68 |
T |
C |
11: 69,555,927 (GRCm39) |
S204G |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 91,200,984 (GRCm39) |
I342K |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,703 (GRCm39) |
I346L |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,475,467 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,478,866 (GRCm39) |
R197S |
possibly damaging |
Het |
| Ddx31 |
G |
T |
2: 28,764,176 (GRCm39) |
V461F |
probably damaging |
Het |
| Eps15l1 |
T |
C |
8: 73,121,756 (GRCm39) |
M714V |
possibly damaging |
Het |
| Fshb |
A |
T |
2: 106,889,272 (GRCm39) |
F11I |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,822,482 (GRCm39) |
C6072G |
possibly damaging |
Het |
| Fuz |
T |
G |
7: 44,546,383 (GRCm39) |
L93R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm8991 |
G |
A |
5: 16,935,678 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
C |
A |
9: 62,680,278 (GRCm39) |
N973K |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,305,201 (GRCm39) |
T202S |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,390,458 (GRCm39) |
L3053F |
probably damaging |
Het |
| Mapk13 |
T |
C |
17: 28,994,304 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,838 (GRCm39) |
H512L |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,081,281 (GRCm39) |
N213S |
probably damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,675,263 (GRCm39) |
G734R |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,686,985 (GRCm39) |
I30N |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,675 (GRCm39) |
I219T |
probably damaging |
Het |
| Pctp |
T |
C |
11: 89,878,162 (GRCm39) |
D124G |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,565 (GRCm39) |
|
probably null |
Het |
| Plat |
T |
A |
8: 23,270,453 (GRCm39) |
F457I |
possibly damaging |
Het |
| Snw1 |
T |
C |
12: 87,502,438 (GRCm39) |
K319E |
probably benign |
Het |
| Sox8 |
A |
G |
17: 25,789,111 (GRCm39) |
L129P |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,269,103 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,241,450 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
T |
A |
1: 132,435,698 (GRCm39) |
V168D |
probably damaging |
Het |
| Ttc41 |
C |
A |
10: 86,549,054 (GRCm39) |
Q83K |
probably damaging |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,267 (GRCm39) |
V165A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps33b |
A |
G |
7: 79,937,560 (GRCm39) |
|
probably null |
Het |
| Zap70 |
T |
C |
1: 36,817,868 (GRCm39) |
Y290H |
possibly damaging |
Het |
|
| Other mutations in Ap4m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation