Incidental Mutation 'IGL03087:Ap4m1'
| ID |
418143 |
| 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 # |
IGL03087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138173066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 150
(T150A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000048698]
[ENSMUST00000110936]
[ENSMUST00000110937]
[ENSMUST00000139983]
[ENSMUST00000151318]
[ENSMUST00000143241]
[ENSMUST00000155902]
[ENSMUST00000148094]
[ENSMUST00000148879]
[ENSMUST00000153867]
[ENSMUST00000153117]
[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 |
probably benign
Transcript: ENSMUST00000019662
AA Change: T136A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518
AA Change: T136A
| 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 |
noncoding transcript
Transcript: ENSMUST00000134100
|
| 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 |
probably benign
Transcript: ENSMUST00000151318
AA Change: T150A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518
AA Change: T150A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142687
|
| 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 |
|
| 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: 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: 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: 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: 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
T |
5: 25,202,630 (GRCm39) |
|
probably benign |
Het |
| Acbd5 |
A |
G |
2: 22,979,722 (GRCm39) |
T261A |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,340,493 (GRCm39) |
T331I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,122,019 (GRCm39) |
R478L |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,106,289 (GRCm39) |
D446G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,958,182 (GRCm39) |
L1087P |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,624,390 (GRCm39) |
L279P |
possibly damaging |
Het |
| Bphl |
A |
T |
13: 34,257,694 (GRCm39) |
H275L |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,042 (GRCm39) |
I120V |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,003,118 (GRCm39) |
V3606I |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,017,081 (GRCm39) |
N696S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,951,248 (GRCm39) |
H420R |
possibly damaging |
Het |
| Enpp1 |
T |
A |
10: 24,531,779 (GRCm39) |
|
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,974,019 (GRCm39) |
|
probably null |
Het |
| Glt8d1 |
T |
A |
14: 30,732,053 (GRCm39) |
F155I |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,785,980 (GRCm39) |
H598Q |
possibly damaging |
Het |
| Hnrnpdl |
T |
A |
5: 100,185,460 (GRCm39) |
E149D |
probably damaging |
Het |
| Ifngr2 |
G |
T |
16: 91,359,892 (GRCm39) |
*333L |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,715,414 (GRCm39) |
S486P |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,318,310 (GRCm39) |
I150T |
probably benign |
Het |
| Jag2 |
G |
A |
12: 112,877,568 (GRCm39) |
L670F |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,652 (GRCm39) |
I280N |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,148,462 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
G |
1: 128,228,112 (GRCm39) |
L1127P |
possibly damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,692,705 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,641 (GRCm39) |
I437N |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,559 (GRCm39) |
S1453P |
probably benign |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,170 (GRCm39) |
M482V |
possibly damaging |
Het |
| Mical1 |
T |
C |
10: 41,358,686 (GRCm39) |
S535P |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,798 (GRCm39) |
F765L |
probably damaging |
Het |
| Nat8f6 |
A |
T |
6: 85,785,499 (GRCm39) |
Y217N |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,486,280 (GRCm39) |
|
probably benign |
Het |
| Neurod6 |
A |
T |
6: 55,655,760 (GRCm39) |
C292* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,005 (GRCm39) |
I173F |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,015 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,356 (GRCm39) |
S75T |
possibly damaging |
Het |
| Or6c76 |
A |
T |
10: 129,612,130 (GRCm39) |
M116L |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,380 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,735 (GRCm39) |
N572D |
probably damaging |
Het |
| Pfpl |
A |
G |
19: 12,406,241 (GRCm39) |
N164S |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,892,075 (GRCm39) |
R264G |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,458,923 (GRCm39) |
F10I |
probably benign |
Het |
| Rag2 |
G |
A |
2: 101,460,559 (GRCm39) |
V290I |
probably benign |
Het |
| Rhot2 |
G |
A |
17: 26,060,115 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,603,908 (GRCm39) |
Y238C |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,488,830 (GRCm39) |
A495D |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,476,071 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,067,992 (GRCm39) |
A18S |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,033 (GRCm39) |
T234A |
probably benign |
Het |
| Slc44a2 |
C |
T |
9: 21,258,061 (GRCm39) |
T435I |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,218,660 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,389 (GRCm39) |
V199A |
possibly damaging |
Het |
| Trap1 |
G |
T |
16: 3,862,565 (GRCm39) |
|
probably null |
Het |
| Trmt1 |
A |
G |
8: 85,421,862 (GRCm39) |
Y213C |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,177,668 (GRCm39) |
R3184* |
probably null |
Het |
| Uroc1 |
G |
T |
6: 90,340,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,476 (GRCm39) |
I10V |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,310,302 (GRCm39) |
A748V |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation