Incidental Mutation 'R5824:Ap1g1'
ID |
450071 |
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 |
043216-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5824 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 110565544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034171]
[ENSMUST00000034171]
[ENSMUST00000034171]
[ENSMUST00000034171]
[ENSMUST00000093157]
[ENSMUST00000093157]
[ENSMUST00000093157]
[ENSMUST00000093157]
[ENSMUST00000093157]
|
AlphaFold |
P22892 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172892
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
probably benign |
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 |
R0508:Ap1g1
|
UTSW |
8 |
110,564,364 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- AGTTCCAAAGACTCCCCACTTG -3'
(R):5'- TAGAGGACAGACACAGCCTTATC -3'
Sequencing Primer
(F):5'- GACTCCCCACTTGTCCCAACTG -3'
(R):5'- TCAAAAATCTGTTCCACTTACCAGG -3'
|
Posted On |
2016-12-20 |