Incidental Mutation 'R6971:Sec63'
| ID |
542255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec63
|
| Ensembl Gene |
ENSMUSG00000019802 |
| Gene Name |
SEC63 homolog, protein translocation regulator |
| Synonyms |
5730478J10Rik |
| MMRRC Submission |
045081-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6971 (G1)
|
| Quality Score |
201.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
42637492-42708510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42659438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 42
(E42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019937]
|
| AlphaFold |
Q8VHE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019937
AA Change: E42G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: E42G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
DnaJ
|
103 |
157 |
6.14e-23 |
SMART |
|
Blast:Sec63
|
170 |
208 |
9e-6 |
BLAST |
|
Sec63
|
219 |
714 |
6.98e-10 |
SMART |
|
low complexity region
|
734 |
760 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
| 2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
| Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
| Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
| Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
| Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
| Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
| Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
| Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
| Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
| Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
| Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
| Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
| Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
probably damaging |
Het |
|
| Other mutations in Sec63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Sec63
|
APN |
10 |
42,688,453 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02111:Sec63
|
APN |
10 |
42,686,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Sec63
|
APN |
10 |
42,677,729 (GRCm39) |
splice site |
probably benign |
|
|
IGL02613:Sec63
|
APN |
10 |
42,677,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Sec63
|
APN |
10 |
42,686,905 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03493:Sec63
|
APN |
10 |
42,704,937 (GRCm39) |
missense |
probably benign |
0.06 |
|
cyst
|
UTSW |
10 |
42,704,861 (GRCm39) |
splice site |
probably null |
|
|
stillwater
|
UTSW |
10 |
42,679,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Sec63
|
UTSW |
10 |
42,699,904 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0233:Sec63
|
UTSW |
10 |
42,699,904 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0234:Sec63
|
UTSW |
10 |
42,674,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0234:Sec63
|
UTSW |
10 |
42,674,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0538:Sec63
|
UTSW |
10 |
42,674,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0734:Sec63
|
UTSW |
10 |
42,672,204 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0906:Sec63
|
UTSW |
10 |
42,677,924 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1136:Sec63
|
UTSW |
10 |
42,682,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Sec63
|
UTSW |
10 |
42,674,724 (GRCm39) |
splice site |
probably null |
|
|
R1736:Sec63
|
UTSW |
10 |
42,703,914 (GRCm39) |
nonsense |
probably null |
|
|
R1961:Sec63
|
UTSW |
10 |
42,699,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Sec63
|
UTSW |
10 |
42,659,522 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4886:Sec63
|
UTSW |
10 |
42,665,389 (GRCm39) |
nonsense |
probably null |
|
|
R4908:Sec63
|
UTSW |
10 |
42,681,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5174:Sec63
|
UTSW |
10 |
42,705,077 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5619:Sec63
|
UTSW |
10 |
42,665,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Sec63
|
UTSW |
10 |
42,677,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5820:Sec63
|
UTSW |
10 |
42,672,241 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6232:Sec63
|
UTSW |
10 |
42,704,861 (GRCm39) |
splice site |
probably null |
|
|
R6656:Sec63
|
UTSW |
10 |
42,692,379 (GRCm39) |
nonsense |
probably null |
|
|
R6847:Sec63
|
UTSW |
10 |
42,667,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Sec63
|
UTSW |
10 |
42,659,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8529:Sec63
|
UTSW |
10 |
42,665,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Sec63
|
UTSW |
10 |
42,686,905 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9259:Sec63
|
UTSW |
10 |
42,699,937 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9391:Sec63
|
UTSW |
10 |
42,681,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9419:Sec63
|
UTSW |
10 |
42,679,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Sec63
|
UTSW |
10 |
42,704,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF010:Sec63
|
UTSW |
10 |
42,682,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGAAATGCTCAGACAACTG -3'
(R):5'- TCTTTACAGCCACACATGTAAGC -3'
Sequencing Primer
(F):5'- AAGTTTCAGAGAAGTTTCACGTG -3'
(R):5'- ATGTAAGCCATCCTCCAATTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation