Incidental Mutation 'R6593:Elavl3'
| ID |
523476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl3
|
| Ensembl Gene |
ENSMUSG00000003410 |
| Gene Name |
ELAV like RNA binding protein 3 |
| Synonyms |
2600009P04Rik, Huc, mHuC |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21926301-21963319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21929843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 354
(V354M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000003501
AA Change: V354M
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: V354M
| 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 |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
probably 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 |
|
IGL03211:Elavl3
|
APN |
9 |
21,929,974 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGTGGTGTTTATGCAG -3'
(R):5'- GGTGCATCTTCGTGTACAACC -3'
Sequencing Primer
(F):5'- CAGGTGTATGGGTCTGCC -3'
(R):5'- TGTCCCCAGAAGCTGATGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation