Incidental Mutation 'R6003:Ap1m1'
ID |
478464 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap1m1
|
Ensembl Gene |
ENSMUSG00000003033 |
Gene Name |
adaptor-related protein complex AP-1, mu subunit 1 |
Synonyms |
mu1A, Cltnm, Adtm1A, AP47, [m]1A |
MMRRC Submission |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
72993862-73011229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73003011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 93
(Y93C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003117]
[ENSMUST00000126885]
[ENSMUST00000145213]
[ENSMUST00000212708]
[ENSMUST00000212841]
[ENSMUST00000212940]
|
AlphaFold |
P35585 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003117
AA Change: Y85C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003117 Gene: ENSMUSG00000003033 AA Change: Y85C
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
2 |
141 |
4.6e-7 |
PFAM |
Pfam:Adap_comp_sub
|
157 |
422 |
2.5e-94 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126885
AA Change: Y59C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120435 Gene: ENSMUSG00000003033 AA Change: Y59C
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
4 |
115 |
4.8e-7 |
PFAM |
Pfam:Adap_comp_sub
|
131 |
181 |
6.4e-18 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145213
AA Change: Y59C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138319 Gene: ENSMUSG00000003033 AA Change: Y59C
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
3 |
107 |
7e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156735
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212708
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212841
AA Change: Y93C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212940
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E13.5. Homozygous embryos display hemorrhage of the ventricles and spinal canal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ap1m1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Ap1m1
|
APN |
8 |
73,009,599 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL00795:Ap1m1
|
APN |
8 |
73,007,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Ap1m1
|
APN |
8 |
73,003,653 (GRCm39) |
missense |
probably benign |
0.41 |
R0363:Ap1m1
|
UTSW |
8 |
73,010,568 (GRCm39) |
unclassified |
probably benign |
|
R0363:Ap1m1
|
UTSW |
8 |
73,006,738 (GRCm39) |
missense |
probably benign |
0.22 |
R1295:Ap1m1
|
UTSW |
8 |
73,005,719 (GRCm39) |
splice site |
probably null |
|
R1681:Ap1m1
|
UTSW |
8 |
73,009,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1784:Ap1m1
|
UTSW |
8 |
73,006,693 (GRCm39) |
missense |
probably benign |
0.01 |
R1934:Ap1m1
|
UTSW |
8 |
73,009,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R4549:Ap1m1
|
UTSW |
8 |
72,994,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Ap1m1
|
UTSW |
8 |
73,006,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7048:Ap1m1
|
UTSW |
8 |
73,003,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R8253:Ap1m1
|
UTSW |
8 |
73,006,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Ap1m1
|
UTSW |
8 |
72,994,066 (GRCm39) |
nonsense |
probably null |
|
R9134:Ap1m1
|
UTSW |
8 |
72,993,913 (GRCm39) |
unclassified |
probably benign |
|
R9641:Ap1m1
|
UTSW |
8 |
73,003,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTAATCTTGGGCCCAGTG -3'
(R):5'- GTGGGAAAGACCAGCTCTAG -3'
Sequencing Primer
(F):5'- AATCTTGGGCCCAGTGTACCAC -3'
(R):5'- GCTCTAGGGAAAAATGTGCCCC -3'
|
Posted On |
2017-06-26 |