Incidental Mutation 'IGL01746:Sec62'
| ID |
153023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sec62
|
| Ensembl Gene |
ENSMUSG00000027706 |
| Gene Name |
SEC62 homolog, preprotein translocation |
| Synonyms |
Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
IGL01746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30847025-30875412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30868395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 208
(I208K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029256]
|
| AlphaFold |
Q8BU14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029256
AA Change: I208K
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: I208K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195072
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,982,276 (GRCm39) |
M1187V |
possibly damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,630 (GRCm39) |
E76G |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,686,717 (GRCm39) |
|
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,890 (GRCm39) |
T63A |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,045,880 (GRCm39) |
C3966* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,755 (GRCm39) |
T275A |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,802,404 (GRCm39) |
H102L |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,736,188 (GRCm39) |
I168T |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,947,338 (GRCm39) |
Y59H |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,439 (GRCm39) |
V231A |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,160 (GRCm39) |
V378E |
probably damaging |
Het |
| Lbx1 |
A |
T |
19: 45,222,214 (GRCm39) |
S270T |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,281,261 (GRCm39) |
R101* |
probably null |
Het |
| Mcph1 |
T |
C |
8: 18,721,143 (GRCm39) |
L657P |
probably damaging |
Het |
| Ndst2 |
G |
T |
14: 20,779,482 (GRCm39) |
P253T |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,699,541 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,424,328 (GRCm39) |
|
probably null |
Het |
| Oc90 |
A |
G |
15: 65,761,250 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
T |
A |
17: 50,914,724 (GRCm39) |
S578T |
probably benign |
Het |
| Ranbp3l |
T |
A |
15: 9,063,167 (GRCm39) |
C325* |
probably null |
Het |
| Rps19bp1 |
T |
C |
15: 80,145,198 (GRCm39) |
Y140C |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,166 (GRCm39) |
F268I |
probably damaging |
Het |
| Slc35e3 |
T |
C |
10: 117,580,807 (GRCm39) |
T166A |
possibly damaging |
Het |
| Tmem253 |
G |
A |
14: 52,254,614 (GRCm39) |
W23* |
probably null |
Het |
| Tmem97 |
T |
C |
11: 78,433,586 (GRCm39) |
Y103C |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,237 (GRCm39) |
E329G |
possibly damaging |
Het |
| Ttll12 |
A |
G |
15: 83,462,877 (GRCm39) |
F530L |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,361,754 (GRCm39) |
P177S |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,508 (GRCm39) |
T520A |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,713 (GRCm39) |
Y404N |
probably 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 |
|
|
IGL02437:Sec62
|
APN |
3 |
30,872,996 (GRCm39) |
missense |
unknown |
|
|
IGL03355:Sec62
|
APN |
3 |
30,864,071 (GRCm39) |
missense |
unknown |
|
|
R2400:Sec62
|
UTSW |
3 |
30,864,681 (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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation