Incidental Mutation 'R7730:Ap4m1'
ID |
595759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap4m1
|
Ensembl Gene |
ENSMUSG00000019518 |
Gene Name |
adaptor-related protein complex AP-4, mu 1 |
Synonyms |
4930443L05Rik |
MMRRC Submission |
045786-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138170283-138178691 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 138171077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 59
(I59T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019662]
[ENSMUST00000139983]
[ENSMUST00000143241]
[ENSMUST00000147920]
[ENSMUST00000148094]
[ENSMUST00000148879]
[ENSMUST00000151318]
[ENSMUST00000153867]
[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: I59T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000019662 Gene: ENSMUSG00000019518 AA Change: I59T
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: 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: ENSMUST00000143241
AA Change: I59T
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123770 Gene: ENSMUSG00000019518 AA Change: I59T
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
86 |
2e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147920
|
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 damaging
Transcript: ENSMUST00000151318
AA Change: I73T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121338 Gene: ENSMUSG00000019518 AA Change: I73T
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
47 |
153 |
3.6e-8 |
PFAM |
|
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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
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 |
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 |
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'- TACCTTTCCACGTTAGGCGG -3'
(R):5'- GTAGACAAGCGCCACATTG -3'
Sequencing Primer
(F):5'- TAGGCGGCCAGGTCTTAGATC -3'
(R):5'- TCATTGAGTGAGCCACAGTAGTCAC -3'
|
Posted On |
2019-11-12 |