Incidental Mutation 'IGL00326:Erlec1'
ID |
6069 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Erlec1
|
Ensembl Gene |
ENSMUSG00000020311 |
Gene Name |
endoplasmic reticulum lectin 1 |
Synonyms |
4933407N01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00326
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30898510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 180
(N180S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073192]
[ENSMUST00000129593]
[ENSMUST00000203878]
|
AlphaFold |
Q8VEH8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073192
AA Change: N180S
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000072929 Gene: ENSMUSG00000020311 AA Change: N180S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:PRKCSH
|
111 |
199 |
6.6e-21 |
PFAM |
Pfam:PRKCSH
|
342 |
421 |
2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129593
|
SMART Domains |
Protein: ENSMUSP00000129078 Gene: ENSMUSG00000020311
Domain | Start | End | E-Value | Type |
SCOP:d1c39a_
|
2 |
52 |
1e-3 |
SMART |
Pfam:PRKCSH
|
149 |
225 |
1.2e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143126
|
SMART Domains |
Protein: ENSMUSP00000126490 Gene: ENSMUSG00000020311
Domain | Start | End | E-Value | Type |
Pfam:PRKCSH
|
52 |
80 |
2.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155304
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203878
|
SMART Domains |
Protein: ENSMUSP00000144900 Gene: ENSMUSG00000020305
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
ANK
|
48 |
77 |
3.5e-2 |
SMART |
ANK
|
81 |
110 |
8e-3 |
SMART |
ANK
|
117 |
146 |
4.8e-5 |
SMART |
ANK
|
150 |
179 |
1.7e-7 |
SMART |
ANK
|
184 |
213 |
1.8e-4 |
SMART |
ANK
|
217 |
246 |
1.8e-6 |
SMART |
ANK
|
250 |
279 |
1.2e-7 |
SMART |
ANK
|
285 |
315 |
1.1e0 |
SMART |
ANK
|
318 |
347 |
1.2e-3 |
SMART |
ANK
|
354 |
385 |
7.7e-1 |
SMART |
SOCS
|
493 |
542 |
2.8e-4 |
SMART |
SOCS_box
|
499 |
541 |
1.6e-17 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
Other mutations in Erlec1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00537:Erlec1
|
APN |
11 |
30,889,591 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00766:Erlec1
|
APN |
11 |
30,900,623 (GRCm39) |
nonsense |
probably null |
|
IGL01760:Erlec1
|
APN |
11 |
30,884,731 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02505:Erlec1
|
APN |
11 |
30,900,767 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02633:Erlec1
|
APN |
11 |
30,898,430 (GRCm39) |
nonsense |
probably null |
|
R0674:Erlec1
|
UTSW |
11 |
30,885,073 (GRCm39) |
intron |
probably benign |
|
R1211:Erlec1
|
UTSW |
11 |
30,898,298 (GRCm39) |
critical splice donor site |
probably null |
|
R1974:Erlec1
|
UTSW |
11 |
30,889,604 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4326:Erlec1
|
UTSW |
11 |
30,899,972 (GRCm39) |
missense |
probably benign |
|
R4328:Erlec1
|
UTSW |
11 |
30,899,972 (GRCm39) |
missense |
probably benign |
|
R4392:Erlec1
|
UTSW |
11 |
30,893,697 (GRCm39) |
critical splice donor site |
probably null |
|
R4641:Erlec1
|
UTSW |
11 |
30,898,442 (GRCm39) |
nonsense |
probably null |
|
R4697:Erlec1
|
UTSW |
11 |
30,902,640 (GRCm39) |
missense |
probably benign |
0.27 |
R4917:Erlec1
|
UTSW |
11 |
30,884,710 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5486:Erlec1
|
UTSW |
11 |
30,885,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R5735:Erlec1
|
UTSW |
11 |
30,900,591 (GRCm39) |
missense |
probably benign |
0.00 |
R5775:Erlec1
|
UTSW |
11 |
30,893,848 (GRCm39) |
missense |
probably benign |
0.11 |
R6475:Erlec1
|
UTSW |
11 |
30,898,442 (GRCm39) |
nonsense |
probably null |
|
R7027:Erlec1
|
UTSW |
11 |
30,900,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Erlec1
|
UTSW |
11 |
30,900,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7440:Erlec1
|
UTSW |
11 |
30,900,818 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8551:Erlec1
|
UTSW |
11 |
30,881,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8848:Erlec1
|
UTSW |
11 |
30,898,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R9420:Erlec1
|
UTSW |
11 |
30,885,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2012-04-20 |