Incidental Mutation 'IGL00766:Erlec1'
| ID |
12606 |
| 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 # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 30900623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 143
(K143*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000073192]
[ENSMUST00000117883]
[ENSMUST00000129593]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
| AlphaFold |
Q8VEH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020551
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
1.23e0 |
SMART |
|
ANK
|
78 |
107 |
7.3e-3 |
SMART |
|
ANK
|
111 |
140 |
2.66e-5 |
SMART |
|
ANK
|
145 |
174 |
2.73e-2 |
SMART |
|
ANK
|
178 |
207 |
2.81e-4 |
SMART |
|
ANK
|
211 |
240 |
1.88e-5 |
SMART |
|
ANK
|
246 |
276 |
1.6e2 |
SMART |
|
ANK
|
279 |
308 |
1.9e-1 |
SMART |
|
ANK
|
315 |
346 |
1.17e2 |
SMART |
|
SOCS_box
|
460 |
502 |
2.1e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073192
AA Change: K143*
|
| SMART Domains |
Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: K143*
| 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: ENSMUST00000117883
|
| SMART Domains |
Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
1.23e0 |
SMART |
|
ANK
|
78 |
107 |
7.3e-3 |
SMART |
|
ANK
|
111 |
140 |
2.66e-5 |
SMART |
|
ANK
|
145 |
174 |
2.73e-2 |
SMART |
|
ANK
|
178 |
207 |
2.81e-4 |
SMART |
|
ANK
|
211 |
240 |
1.88e-5 |
SMART |
|
ANK
|
246 |
276 |
1.6e2 |
SMART |
|
ANK
|
279 |
308 |
1.9e-1 |
SMART |
|
ANK
|
315 |
346 |
1.17e2 |
SMART |
|
| 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: ENSMUST00000137306
|
| SMART Domains |
Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
4.3e0 |
SMART |
|
| 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: ENSMUST00000148163
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
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 |
|
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 |
2012-12-06 |
Incidental Mutation