Incidental Mutation 'R2400:Sec62'
| ID |
248647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec62
|
| Ensembl Gene |
ENSMUSG00000027706 |
| Gene Name |
SEC62 homolog, preprotein translocation |
| Synonyms |
Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik |
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30847025-30875412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30864681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 182
(N182D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029256]
|
| AlphaFold |
Q8BU14 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000029256
AA Change: N182D
|
| SMART Domains |
Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: N182D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec62
|
87 |
311 |
1.1e-78 |
PFAM |
|
low complexity region
|
338 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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 SEC63 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
Het |
|
| Other mutations in Sec62 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Sec62
|
APN |
3 |
30,864,591 (GRCm39) |
splice site |
probably benign |
|
|
IGL01359:Sec62
|
APN |
3 |
30,868,455 (GRCm39) |
missense |
unknown |
|
|
IGL01746:Sec62
|
APN |
3 |
30,868,395 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02437:Sec62
|
APN |
3 |
30,872,996 (GRCm39) |
missense |
unknown |
|
|
IGL03355:Sec62
|
APN |
3 |
30,864,071 (GRCm39) |
missense |
unknown |
|
|
R4423:Sec62
|
UTSW |
3 |
30,868,431 (GRCm39) |
missense |
unknown |
|
|
R4649:Sec62
|
UTSW |
3 |
30,864,683 (GRCm39) |
missense |
unknown |
|
|
R4717:Sec62
|
UTSW |
3 |
30,864,020 (GRCm39) |
missense |
unknown |
|
|
R4837:Sec62
|
UTSW |
3 |
30,864,018 (GRCm39) |
missense |
unknown |
|
|
R5775:Sec62
|
UTSW |
3 |
30,847,436 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6153:Sec62
|
UTSW |
3 |
30,864,631 (GRCm39) |
missense |
unknown |
|
|
R6275:Sec62
|
UTSW |
3 |
30,863,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6734:Sec62
|
UTSW |
3 |
30,864,609 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7216:Sec62
|
UTSW |
3 |
30,872,978 (GRCm39) |
nonsense |
probably null |
|
|
R7250:Sec62
|
UTSW |
3 |
30,866,496 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7453:Sec62
|
UTSW |
3 |
30,863,945 (GRCm39) |
splice site |
probably null |
|
|
R8411:Sec62
|
UTSW |
3 |
30,872,931 (GRCm39) |
missense |
unknown |
|
|
R8537:Sec62
|
UTSW |
3 |
30,872,961 (GRCm39) |
missense |
unknown |
|
|
R8769:Sec62
|
UTSW |
3 |
30,864,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8856:Sec62
|
UTSW |
3 |
30,847,506 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8907:Sec62
|
UTSW |
3 |
30,864,621 (GRCm39) |
missense |
unknown |
|
|
R8957:Sec62
|
UTSW |
3 |
30,864,671 (GRCm39) |
missense |
unknown |
|
|
R8969:Sec62
|
UTSW |
3 |
30,873,024 (GRCm39) |
missense |
unknown |
|
|
R9089:Sec62
|
UTSW |
3 |
30,868,383 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATGTGAGATACCTGCC -3'
(R):5'- AGGAAACCTGTGTTGTACTAAGC -3'
Sequencing Primer
(F):5'- CCTGCCATGATTATTTGTAAACACCG -3'
(R):5'- CTGATTCTAACTAGATTAGAAACGT -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation