Incidental Mutation 'R5173:Ap1g1'
| ID |
398903 |
| 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 |
042753-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110505215-110590842 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 110577764 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 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 |
noncoding transcript
Transcript: ENSMUST00000172892
|
| Meta Mutation Damage Score |
0.9590 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
| Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
| Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
| Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,190,356 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,217,474 (GRCm39) |
Y41C |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
| Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
| Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,149 (GRCm39) |
I538M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
| Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
| Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
| Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,000,758 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,146,471 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
| Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
| Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
| Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
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 |
|
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 |
|
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'- TCAGCCATGTCTATGTACACAC -3'
(R):5'- TCCCCAGACCTGCTAAAATGG -3'
Sequencing Primer
(F):5'- TCAGATACATGTATACCTACCTGC -3'
(R):5'- CAGACCTGCTAAAATGGATTTAAATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation