Incidental Mutation 'R5544:Ap4m1'
| ID |
436149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap4m1
|
| Ensembl Gene |
ENSMUSG00000019518 |
| Gene Name |
adaptor-related protein complex AP-4, mu 1 |
| Synonyms |
4930443L05Rik |
| MMRRC Submission |
043102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5544 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138176632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 411
(T411A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019662]
[ENSMUST00000048698]
[ENSMUST00000110936]
[ENSMUST00000110937]
[ENSMUST00000123415]
[ENSMUST00000153117]
[ENSMUST00000151318]
[ENSMUST00000143241]
|
| AlphaFold |
Q9JKC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019662
AA Change: T411A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: T411A
| 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 |
probably benign
Transcript: ENSMUST00000048698
|
| SMART Domains |
Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
|
Pfam:DUF1546
|
308 |
399 |
1e-35 |
PFAM |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110936
|
| SMART Domains |
Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
|
Pfam:TAF6_C
|
308 |
397 |
1.1e-33 |
PFAM |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110937
|
| SMART Domains |
Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
|
Pfam:DUF1546
|
308 |
399 |
1.9e-36 |
PFAM |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123415
|
| SMART Domains |
Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153117
|
| SMART Domains |
Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
| 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: 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: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
| Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
| Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
| Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
| Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
| Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
| Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
| Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
| Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
| Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
| R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
| Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
| Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTTGTTGATCCTACACAC -3'
(R):5'- GCATCACATAAGGTCCGTGG -3'
Sequencing Primer
(F):5'- GTTGATCCTACACACCTCCTGTACAG -3'
(R):5'- AGAAAATGTCCTCTTCCTGTTCAAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation