Incidental Mutation 'R5140:Copb1'
| ID |
396401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copb1
|
| Ensembl Gene |
ENSMUSG00000030754 |
| Gene Name |
coatomer protein complex, subunit beta 1 |
| Synonyms |
2610019B04Rik, Copb1 |
| MMRRC Submission |
042726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
113814794-113853915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113846035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 178
(H178Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033012]
|
| AlphaFold |
Q9JIF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033012
AA Change: H178Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: H178Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
19 |
539 |
2.4e-124 |
PFAM |
|
low complexity region
|
643 |
660 |
N/A |
INTRINSIC |
|
Pfam:Coatamer_beta_C
|
667 |
807 |
3.6e-63 |
PFAM |
|
Pfam:Coatomer_b_Cpla
|
813 |
944 |
3.1e-65 |
PFAM |
|
| Meta Mutation Damage Score |
0.0805 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,154 (GRCm39) |
I405N |
probably damaging |
Het |
| Abhd17b |
T |
C |
19: 21,661,545 (GRCm39) |
L244P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,579,532 (GRCm39) |
C34* |
probably null |
Het |
| Arhgap33 |
A |
G |
7: 30,227,726 (GRCm39) |
V491A |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,551,619 (GRCm39) |
R201Q |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,730,515 (GRCm39) |
N77K |
probably damaging |
Het |
| Clcn6 |
A |
C |
4: 148,122,774 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,977,771 (GRCm39) |
V1854I |
probably damaging |
Het |
| Dnajc16 |
T |
G |
4: 141,491,994 (GRCm39) |
T610P |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,528,750 (GRCm39) |
N624S |
possibly damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,459 (GRCm39) |
T310A |
probably benign |
Het |
| Galnt16 |
T |
A |
12: 80,628,073 (GRCm39) |
D256E |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,919 (GRCm39) |
D173G |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,066 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,693 (GRCm39) |
|
noncoding transcript |
Het |
| Hs3st6 |
A |
T |
17: 24,977,521 (GRCm39) |
M334L |
probably benign |
Het |
| Idua |
T |
A |
5: 108,828,180 (GRCm39) |
D155E |
probably damaging |
Het |
| Kdm6b |
T |
C |
11: 69,290,881 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,461 (GRCm39) |
F272L |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,985,343 (GRCm39) |
K233E |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,328 (GRCm39) |
V250M |
probably damaging |
Het |
| Lhpp |
T |
C |
7: 132,307,361 (GRCm39) |
Y253H |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,547,897 (GRCm39) |
L51* |
probably null |
Het |
| Or10ac1 |
T |
C |
6: 42,515,449 (GRCm39) |
H169R |
probably benign |
Het |
| Or1j18 |
T |
A |
2: 36,624,510 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,627 (GRCm39) |
Y273C |
probably damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,451 (GRCm39) |
K23E |
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,338,107 (GRCm39) |
M295T |
probably benign |
Het |
| Pcdhb9 |
T |
G |
18: 37,534,186 (GRCm39) |
V60G |
probably benign |
Het |
| Prkce |
T |
C |
17: 86,789,570 (GRCm39) |
V239A |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,822,937 (GRCm39) |
C293Y |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,712,459 (GRCm39) |
R1804Q |
probably damaging |
Het |
| Rnf26 |
C |
A |
9: 44,024,071 (GRCm39) |
|
probably null |
Het |
| Safb2 |
T |
C |
17: 56,884,901 (GRCm39) |
D178G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,395,511 (GRCm39) |
V178M |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,285,026 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,190,544 (GRCm39) |
G7R |
probably benign |
Het |
| Setd2 |
C |
A |
9: 110,380,197 (GRCm39) |
D1337E |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,030,449 (GRCm39) |
M222K |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,480,486 (GRCm39) |
Y79H |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,133,155 (GRCm39) |
M297T |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spcs1 |
A |
G |
14: 30,722,570 (GRCm39) |
L83S |
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,276,743 (GRCm39) |
N106S |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,178 (GRCm39) |
R1309Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,840,709 (GRCm39) |
F695I |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,330 (GRCm39) |
L314P |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,645 (GRCm39) |
E166K |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,372,312 (GRCm39) |
D41N |
probably benign |
Het |
|
| Other mutations in Copb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Copb1
|
APN |
7 |
113,826,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02458:Copb1
|
APN |
7 |
113,846,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02549:Copb1
|
APN |
7 |
113,846,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02639:Copb1
|
APN |
7 |
113,825,830 (GRCm39) |
splice site |
probably benign |
|
|
robbers
|
UTSW |
7 |
113,848,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Copb1
|
UTSW |
7 |
113,836,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Copb1
|
UTSW |
7 |
113,836,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0023:Copb1
|
UTSW |
7 |
113,849,329 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0631:Copb1
|
UTSW |
7 |
113,832,517 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1996:Copb1
|
UTSW |
7 |
113,831,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Copb1
|
UTSW |
7 |
113,853,110 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2257:Copb1
|
UTSW |
7 |
113,853,110 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3853:Copb1
|
UTSW |
7 |
113,822,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Copb1
|
UTSW |
7 |
113,848,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Copb1
|
UTSW |
7 |
113,820,971 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5057:Copb1
|
UTSW |
7 |
113,825,997 (GRCm39) |
missense |
probably benign |
|
|
R5669:Copb1
|
UTSW |
7 |
113,836,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Copb1
|
UTSW |
7 |
113,818,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Copb1
|
UTSW |
7 |
113,836,032 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6114:Copb1
|
UTSW |
7 |
113,846,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6403:Copb1
|
UTSW |
7 |
113,837,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Copb1
|
UTSW |
7 |
113,825,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6905:Copb1
|
UTSW |
7 |
113,853,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7241:Copb1
|
UTSW |
7 |
113,836,591 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7293:Copb1
|
UTSW |
7 |
113,818,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Copb1
|
UTSW |
7 |
113,844,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8103:Copb1
|
UTSW |
7 |
113,834,202 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8427:Copb1
|
UTSW |
7 |
113,825,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8690:Copb1
|
UTSW |
7 |
113,849,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8843:Copb1
|
UTSW |
7 |
113,820,935 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9405:Copb1
|
UTSW |
7 |
113,822,458 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9425:Copb1
|
UTSW |
7 |
113,848,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Copb1
|
UTSW |
7 |
113,831,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Copb1
|
UTSW |
7 |
113,836,034 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9564:Copb1
|
UTSW |
7 |
113,836,034 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9566:Copb1
|
UTSW |
7 |
113,825,997 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACATGCTGTCTGCTGAGGTG -3'
(R):5'- GACTGTTCCCTCAATACTTCTTAAG -3'
Sequencing Primer
(F):5'- CTTTTACCCTAGCACGTGGGAAG -3'
(R):5'- GGAAAGTGGGCATTTACTT -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation