Incidental Mutation 'IGL01760:Erlec1'
ID |
153253 |
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 # |
IGL01760
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30884731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 441
(S441A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073192]
[ENSMUST00000129593]
[ENSMUST00000203878]
|
AlphaFold |
Q8VEH8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073192
AA Change: S441A
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000072929 Gene: ENSMUSG00000020311 AA Change: S441A
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 |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
Het |
|
Other mutations in Erlec1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Erlec1
|
APN |
11 |
30,898,510 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL00537:Erlec1
|
APN |
11 |
30,889,591 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00766:Erlec1
|
APN |
11 |
30,900,623 (GRCm39) |
nonsense |
probably null |
|
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 |
2014-02-04 |