Incidental Mutation 'R0850:Elavl3'
| ID |
82521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl3
|
| Ensembl Gene |
ENSMUSG00000003410 |
| Gene Name |
ELAV like RNA binding protein 3 |
| Synonyms |
2600009P04Rik, Huc, mHuC |
| MMRRC Submission |
039029-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
R0850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21926301-21963319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21948059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 35
(D35A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003501]
[ENSMUST00000215901]
|
| AlphaFold |
Q60900 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003501
AA Change: D36A
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: D36A
| 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: ENSMUST00000213738
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215901
AA Change: D35A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,802,444 (GRCm39) |
V418A |
possibly damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
| Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
| H2-DMb1 |
T |
C |
17: 34,374,536 (GRCm39) |
V62A |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
| Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
| Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
| Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,708,252 (GRCm39) |
M186L |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
| Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
A |
T |
16: 17,745,145 (GRCm39) |
F105Y |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
| Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
| Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGAGTGACTTCCCTAGTCTGCC -3'
(R):5'- TTTCCTGCTCTAGCCCAGTGATGG -3'
Sequencing Primer
(F):5'- TTCCCCAGAGAGCCACTTG -3'
(R):5'- CAGTGATGGGGACTGGGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation