Incidental Mutation 'R4641:Erlec1'
| ID |
351650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erlec1
|
| Ensembl Gene |
ENSMUSG00000020311 |
| Gene Name |
endoplasmic reticulum lectin 1 |
| Synonyms |
4933407N01Rik |
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30880774-30904335 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 30898442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 10
(Q10*)
|
| 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: Q203*
|
| SMART Domains |
Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: Q203*
| 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: Q10*
|
| SMART Domains |
Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311
AA Change: Q10*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAGGCTCTGAACCTATTC -3'
(R):5'- GCAGCCCAGTATAGTACATTTTC -3'
Sequencing Primer
(F):5'- GCACAAGAGTGGTGTCAAA -3'
(R):5'- AGCTTAGTTTGTGTCTTCAGAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation