Incidental Mutation 'IGL02633:Erlec1'
| ID |
301399 |
| 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 # |
IGL02633
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 30898430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 14
(R14*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073192]
[ENSMUST00000129593]
[ENSMUST00000203878]
|
| AlphaFold |
Q8VEH8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073192
AA Change: R207*
|
| SMART Domains |
Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: R207*
| 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 null
Transcript: ENSMUST00000129593
AA Change: R14*
|
| SMART Domains |
Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311
AA Change: R14*
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
| Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
| Aspn |
A |
T |
13: 49,705,363 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
| Cacnb1 |
A |
T |
11: 97,913,199 (GRCm39) |
I18N |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
| Coasy |
T |
A |
11: 100,976,147 (GRCm39) |
L425Q |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
| Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
| Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
| Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
| Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
| Mrpl44 |
G |
A |
1: 79,753,862 (GRCm39) |
V5I |
probably benign |
Het |
| Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
| Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
| Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
| Rbfox1 |
T |
A |
16: 7,110,078 (GRCm39) |
S165R |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
| Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
| Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation