Incidental Mutation 'R4357:Ap4m1'
ID |
324601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap4m1
|
Ensembl Gene |
ENSMUSG00000019518 |
Gene Name |
adaptor-related protein complex AP-4, mu 1 |
Synonyms |
4930443L05Rik |
MMRRC Submission |
041109-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4357 (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 138171311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 125
(E125G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000139983]
[ENSMUST00000151318]
[ENSMUST00000148094]
[ENSMUST00000143241]
[ENSMUST00000153867]
[ENSMUST00000147920]
[ENSMUST00000148879]
[ENSMUST00000155902]
|
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 damaging
Transcript: ENSMUST00000019662
AA Change: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019662 Gene: ENSMUSG00000019518 AA Change: E111G
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 damaging
Transcript: ENSMUST00000151318
AA Change: E125G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121338 Gene: ENSMUSG00000019518 AA Change: E125G
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157031
|
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 |
|
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
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
G |
8: 41,248,084 (GRCm39) |
T65A |
possibly damaging |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Atp13a2 |
C |
A |
4: 140,729,215 (GRCm39) |
D599E |
probably benign |
Het |
Brme1 |
T |
C |
8: 84,886,221 (GRCm39) |
L59P |
probably benign |
Het |
Camkv |
G |
A |
9: 107,825,145 (GRCm39) |
G354E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,646,150 (GRCm39) |
M1741K |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,938,106 (GRCm39) |
D119G |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,775,595 (GRCm39) |
D42V |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,084 (GRCm39) |
I209V |
probably benign |
Het |
Defa27 |
A |
T |
8: 21,805,608 (GRCm39) |
Q16L |
probably null |
Het |
Dnaja3 |
T |
C |
16: 4,517,731 (GRCm39) |
I321T |
probably damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
T |
A |
6: 70,861,859 (GRCm39) |
I467N |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,089,339 (GRCm39) |
V1105E |
probably damaging |
Het |
Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
Gm10803 |
A |
G |
2: 93,394,350 (GRCm39) |
R41G |
unknown |
Het |
Gm38392 |
A |
T |
3: 88,154,741 (GRCm39) |
I221N |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hsd17b6 |
G |
T |
10: 127,829,637 (GRCm39) |
|
probably null |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Lats2 |
A |
G |
14: 57,936,840 (GRCm39) |
S550P |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,125,091 (GRCm39) |
R406G |
probably null |
Het |
Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,028,755 (GRCm39) |
E326G |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,055,174 (GRCm39) |
I1969N |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Ngf |
A |
G |
3: 102,427,521 (GRCm39) |
E94G |
probably benign |
Het |
Oas2 |
C |
T |
5: 120,876,734 (GRCm39) |
|
probably null |
Het |
Odf2 |
A |
G |
2: 29,782,256 (GRCm39) |
T75A |
probably benign |
Het |
Or4f60 |
A |
G |
2: 111,902,583 (GRCm39) |
L115P |
probably damaging |
Het |
Or5w11 |
T |
A |
2: 87,458,810 (GRCm39) |
M1K |
probably null |
Het |
Pi4ka |
T |
A |
16: 17,185,303 (GRCm39) |
I266F |
probably benign |
Het |
Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
Psmd2 |
T |
G |
16: 20,475,402 (GRCm39) |
D393E |
probably benign |
Het |
Rabep2 |
A |
G |
7: 126,047,397 (GRCm39) |
I753T |
probably damaging |
Het |
Rara |
A |
C |
11: 98,858,937 (GRCm39) |
I129L |
probably damaging |
Het |
Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Spmip4 |
T |
C |
6: 50,551,190 (GRCm39) |
T420A |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sptlc1 |
A |
T |
13: 53,528,068 (GRCm39) |
I32K |
probably damaging |
Het |
Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
Ssrp1 |
A |
T |
2: 84,871,495 (GRCm39) |
M306L |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,919,497 (GRCm39) |
E817G |
probably benign |
Het |
Tiam2 |
C |
A |
17: 3,501,128 (GRCm39) |
D922E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Ttll12 |
A |
T |
15: 83,465,958 (GRCm39) |
C413S |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,834,350 (GRCm39) |
Y809* |
probably null |
Het |
Vmn2r59 |
G |
A |
7: 41,661,644 (GRCm39) |
P724S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCACAACCTTAGAAAACGTCT -3'
(R):5'- ATTGACCTAGTGCTTGAGTTATGGT -3'
Sequencing Primer
(F):5'- AGAAAACGTCTCTCCTTTCAGC -3'
(R):5'- ACCTAGTGCTTGAGTTATGGTGGATC -3'
|
Posted On |
2015-06-24 |