Incidental Mutation 'R0508:Ap1g1'
| ID |
47729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap1g1
|
| Ensembl Gene |
ENSMUSG00000031731 |
| Gene Name |
adaptor protein complex AP-1, gamma 1 subunit |
| Synonyms |
D8Ertd374e, gamma-adaptin, Adtg |
| MMRRC Submission |
038703-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0508 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 110564364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034171]
[ENSMUST00000093157]
|
| AlphaFold |
P22892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034171
|
| SMART Domains |
Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Adaptin_N
|
23 |
574 |
7.8e-157 |
PFAM |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
699 |
817 |
6.37e-46 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093157
|
| SMART Domains |
Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Adaptin_N
|
23 |
577 |
1.1e-155 |
PFAM |
|
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
679 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
702 |
820 |
6.37e-46 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122558
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,211,162 (GRCm39) |
L632P |
probably damaging |
Het |
| 4833439L19Rik |
A |
G |
13: 54,700,863 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
C |
3: 121,917,200 (GRCm39) |
|
probably benign |
Het |
| Adamts10 |
G |
T |
17: 33,762,692 (GRCm39) |
G557V |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,326,360 (GRCm39) |
H424R |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,816,839 (GRCm39) |
Q623R |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,702,222 (GRCm39) |
S1092P |
unknown |
Het |
| Arhgap32 |
A |
T |
9: 32,101,364 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,388,670 (GRCm39) |
S535C |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,446 (GRCm39) |
|
probably null |
Het |
| Bicral |
A |
T |
17: 47,136,327 (GRCm39) |
H294Q |
possibly damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,685 (GRCm39) |
K340E |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,812 (GRCm39) |
H58L |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,576,147 (GRCm39) |
E100G |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,969 (GRCm39) |
S16P |
probably benign |
Het |
| Clec2i |
T |
A |
6: 128,870,663 (GRCm39) |
V67D |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Coq6 |
G |
T |
12: 84,414,913 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,588 (GRCm39) |
Q72R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,374 (GRCm39) |
S570P |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,970,535 (GRCm39) |
N1027S |
probably damaging |
Het |
| Exog |
T |
A |
9: 119,277,444 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
A |
C |
17: 25,068,975 (GRCm39) |
V34G |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,748,045 (GRCm39) |
R74W |
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,367,174 (GRCm39) |
L239Q |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,284,938 (GRCm39) |
G1253D |
unknown |
Het |
| Galnt12 |
A |
G |
4: 47,104,255 (GRCm39) |
D171G |
probably damaging |
Het |
| Gm973 |
G |
T |
1: 59,621,649 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
C |
A |
1: 93,342,533 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
A |
1: 40,490,877 (GRCm39) |
I386N |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,623,002 (GRCm39) |
|
probably benign |
Het |
| Magoh |
A |
C |
4: 107,742,195 (GRCm39) |
K114Q |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,005 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,302,075 (GRCm39) |
D986E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,909,121 (GRCm39) |
|
probably null |
Het |
| Neu1 |
A |
G |
17: 35,151,760 (GRCm39) |
I185V |
probably benign |
Het |
| Nkiras1 |
T |
A |
14: 18,278,524 (GRCm38) |
D79E |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,428,350 (GRCm39) |
E66G |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,193 (GRCm39) |
I262N |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,016,465 (GRCm39) |
N73K |
probably benign |
Het |
| Otulin |
C |
T |
15: 27,608,944 (GRCm39) |
V2I |
possibly damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,443,368 (GRCm39) |
M421T |
probably damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,443 (GRCm39) |
|
probably benign |
Het |
| Rrad |
A |
T |
8: 105,356,500 (GRCm39) |
D133E |
possibly damaging |
Het |
| Scaf11 |
A |
G |
15: 96,318,368 (GRCm39) |
S399P |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,508,080 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,548,186 (GRCm39) |
E1126G |
probably damaging |
Het |
| Selenop |
T |
G |
15: 3,305,202 (GRCm39) |
D119E |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,204,651 (GRCm39) |
S32C |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,093,770 (GRCm39) |
K315N |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,032,872 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
G |
A |
15: 100,686,973 (GRCm39) |
R259Q |
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,293,962 (GRCm39) |
R198Q |
probably damaging |
Het |
| Spta1 |
A |
C |
1: 174,052,023 (GRCm39) |
Y1819S |
probably damaging |
Het |
| Stard3 |
T |
A |
11: 98,263,140 (GRCm39) |
I65N |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,997 (GRCm39) |
L712P |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,816,343 (GRCm39) |
R62C |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,811 (GRCm39) |
F410L |
probably null |
Het |
| Txndc2 |
T |
A |
17: 65,944,948 (GRCm39) |
I410F |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,580,150 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,392 (GRCm39) |
F115L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,910 (GRCm39) |
V46A |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,933,789 (GRCm39) |
S1615R |
probably benign |
Het |
| Zfand4 |
T |
A |
6: 116,262,828 (GRCm39) |
C118S |
probably damaging |
Het |
| Zfp952 |
G |
A |
17: 33,221,979 (GRCm39) |
E115K |
possibly damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,872 (GRCm39) |
F368L |
probably damaging |
Het |
|
| Other mutations in Ap1g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Ap1g1
|
APN |
8 |
110,559,414 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01907:Ap1g1
|
APN |
8 |
110,569,975 (GRCm39) |
splice site |
probably benign |
|
|
IGL02248:Ap1g1
|
APN |
8 |
110,590,065 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02548:Ap1g1
|
APN |
8 |
110,576,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Collapse
|
UTSW |
8 |
110,554,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
Deflate
|
UTSW |
8 |
110,577,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
depress
|
UTSW |
8 |
110,565,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Ap1g1
|
UTSW |
8 |
110,582,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0226:Ap1g1
|
UTSW |
8 |
110,581,694 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0254:Ap1g1
|
UTSW |
8 |
110,529,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0315:Ap1g1
|
UTSW |
8 |
110,545,667 (GRCm39) |
missense |
probably benign |
|
|
R0380:Ap1g1
|
UTSW |
8 |
110,529,796 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Ap1g1
|
UTSW |
8 |
110,580,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0837:Ap1g1
|
UTSW |
8 |
110,577,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Ap1g1
|
UTSW |
8 |
110,545,571 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1700:Ap1g1
|
UTSW |
8 |
110,580,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Ap1g1
|
UTSW |
8 |
110,559,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Ap1g1
|
UTSW |
8 |
110,559,814 (GRCm39) |
splice site |
probably benign |
|
|
R2161:Ap1g1
|
UTSW |
8 |
110,570,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Ap1g1
|
UTSW |
8 |
110,570,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Ap1g1
|
UTSW |
8 |
110,564,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Ap1g1
|
UTSW |
8 |
110,581,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4244:Ap1g1
|
UTSW |
8 |
110,560,122 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4714:Ap1g1
|
UTSW |
8 |
110,556,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4736:Ap1g1
|
UTSW |
8 |
110,581,714 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5173:Ap1g1
|
UTSW |
8 |
110,577,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5185:Ap1g1
|
UTSW |
8 |
110,589,958 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5435:Ap1g1
|
UTSW |
8 |
110,565,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Ap1g1
|
UTSW |
8 |
110,564,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5824:Ap1g1
|
UTSW |
8 |
110,565,544 (GRCm39) |
splice site |
probably null |
|
|
R5867:Ap1g1
|
UTSW |
8 |
110,545,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Ap1g1
|
UTSW |
8 |
110,571,000 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6978:Ap1g1
|
UTSW |
8 |
110,554,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7440:Ap1g1
|
UTSW |
8 |
110,529,356 (GRCm39) |
splice site |
probably null |
|
|
R7532:Ap1g1
|
UTSW |
8 |
110,586,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Ap1g1
|
UTSW |
8 |
110,576,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7978:Ap1g1
|
UTSW |
8 |
110,564,399 (GRCm39) |
nonsense |
probably null |
|
|
R8022:Ap1g1
|
UTSW |
8 |
110,559,367 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8743:Ap1g1
|
UTSW |
8 |
110,564,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8947:Ap1g1
|
UTSW |
8 |
110,589,964 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9002:Ap1g1
|
UTSW |
8 |
110,581,738 (GRCm39) |
missense |
probably benign |
|
|
R9225:Ap1g1
|
UTSW |
8 |
110,585,509 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9512:Ap1g1
|
UTSW |
8 |
110,529,687 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTAGCATTAGGCGGCATTCCA -3'
(R):5'- CTACCACCTCCACCAAAGCAATGTaa -3'
Sequencing Primer
(F):5'- cagagaacaatttgagggaatgg -3'
(R):5'- aattaagtaactgctacaaagaccc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation