Incidental Mutation 'IGL03211:Elavl3'
| ID |
413310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elavl3
|
| Ensembl Gene |
ENSMUSG00000003410 |
| Gene Name |
ELAV like RNA binding protein 3 |
| Synonyms |
2600009P04Rik, Huc, mHuC |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21926301-21963319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21929974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 310
(V310A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003493]
[ENSMUST00000003501]
[ENSMUST00000115331]
[ENSMUST00000215901]
[ENSMUST00000216344]
|
| AlphaFold |
Q60900 |
| PDB Structure |
SOLUTION STRUCTURE OF THE FIRST RNA-BINDING DOMAIN (RBD1) OF HU ANTIGEN C (HUC) [SOLUTION NMR]
SOLUTION STRUCTURE OF THE SECOND RNA-BINDING DOMAIN (RBD2) OF HU ANTIGEN C (HUC) [SOLUTION NMR]
SOLUTION STRUCTURE OF THE HUC RBD1-RBD2 COMPLEXED WITH THE AU-RICH ELEMENT [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003493
|
| SMART Domains |
Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
|
internal_repeat_1
|
91 |
105 |
3.48e-7 |
PROSPERO |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
214 |
236 |
5.5e-5 |
PFAM |
|
Pfam:EF-hand_5
|
239 |
257 |
4.4e-4 |
PFAM |
|
low complexity region
|
290 |
341 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH_1
|
366 |
512 |
4.3e-23 |
PFAM |
|
Pfam:PRKCSH
|
406 |
464 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003501
AA Change: V310A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: V310A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
RRM
|
40 |
113 |
9.99e-24 |
SMART |
|
RRM
|
126 |
201 |
2.81e-18 |
SMART |
|
low complexity region
|
266 |
283 |
N/A |
INTRINSIC |
|
RRM
|
285 |
358 |
1.79e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115331
|
| SMART Domains |
Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
|
internal_repeat_1
|
91 |
105 |
1.7e-7 |
PROSPERO |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
215 |
236 |
3.2e-5 |
PFAM |
|
Pfam:EF-hand_5
|
239 |
257 |
1.2e-3 |
PFAM |
|
low complexity region
|
290 |
352 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH_1
|
373 |
519 |
4.4e-23 |
PFAM |
|
Pfam:PRKCSH
|
413 |
471 |
4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215901
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216344
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain-specific preweaning lethality, abnormal cortical hypersynchronization and non-convulsive electropgraphic seizure. Mice heterozygous for the allele exhibit abnormal brain wave pattern and spike wave discharge. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
| Other mutations in Elavl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:Elavl3
|
APN |
9 |
21,948,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Elavl3
|
APN |
9 |
21,947,675 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03011:Elavl3
|
APN |
9 |
21,947,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Elavl3
|
UTSW |
9 |
21,948,167 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Elavl3
|
UTSW |
9 |
21,948,129 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0850:Elavl3
|
UTSW |
9 |
21,948,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1496:Elavl3
|
UTSW |
9 |
21,937,461 (GRCm39) |
splice site |
probably benign |
|
|
R1499:Elavl3
|
UTSW |
9 |
21,929,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3500:Elavl3
|
UTSW |
9 |
21,930,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Elavl3
|
UTSW |
9 |
21,929,895 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3715:Elavl3
|
UTSW |
9 |
21,929,895 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3937:Elavl3
|
UTSW |
9 |
21,930,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Elavl3
|
UTSW |
9 |
21,930,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Elavl3
|
UTSW |
9 |
21,935,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Elavl3
|
UTSW |
9 |
21,937,614 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4886:Elavl3
|
UTSW |
9 |
21,937,614 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4962:Elavl3
|
UTSW |
9 |
21,948,107 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5526:Elavl3
|
UTSW |
9 |
21,947,622 (GRCm39) |
missense |
probably benign |
|
|
R5643:Elavl3
|
UTSW |
9 |
21,930,029 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6593:Elavl3
|
UTSW |
9 |
21,929,843 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7102:Elavl3
|
UTSW |
9 |
21,930,025 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7897:Elavl3
|
UTSW |
9 |
21,929,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Elavl3
|
UTSW |
9 |
21,947,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8710:Elavl3
|
UTSW |
9 |
21,937,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation