Incidental Mutation 'R3714:Elavl3'
| ID |
259800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl3
|
| Ensembl Gene |
ENSMUSG00000003410 |
| Gene Name |
ELAV like RNA binding protein 3 |
| Synonyms |
2600009P04Rik, Huc, mHuC |
| MMRRC Submission |
040707-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R3714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21926301-21963319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21929895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 336
(D336E)
|
| 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 benign
Transcript: ENSMUST00000003501
AA Change: D336E
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: D336E
| 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
|
| Meta Mutation Damage Score |
0.0962 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adck5 |
G |
A |
15: 76,478,138 (GRCm39) |
V229I |
probably damaging |
Het |
| Afg2a |
G |
A |
3: 37,487,358 (GRCm39) |
V407I |
probably benign |
Het |
| Ankk1 |
T |
G |
9: 49,333,013 (GRCm39) |
D157A |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,551 (GRCm39) |
I817T |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,287 (GRCm39) |
S260G |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Cibar2 |
C |
T |
8: 120,901,576 (GRCm39) |
R43H |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,199,062 (GRCm39) |
Q119* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,520,657 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
T |
A |
6: 134,996,025 (GRCm39) |
I329K |
probably damaging |
Het |
| Fcsk |
G |
T |
8: 111,613,891 (GRCm39) |
D723E |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,947 (GRCm39) |
E136D |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,521,104 (GRCm39) |
I178T |
probably benign |
Het |
| Igkv3-2 |
T |
G |
6: 70,675,480 (GRCm39) |
V10G |
possibly damaging |
Het |
| Jrkl |
A |
C |
9: 13,244,236 (GRCm39) |
I475R |
possibly damaging |
Het |
| Lcmt1 |
C |
T |
7: 123,003,683 (GRCm39) |
H146Y |
probably damaging |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Mb |
A |
G |
15: 76,901,789 (GRCm39) |
V102A |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndufs7 |
T |
C |
10: 80,088,255 (GRCm39) |
I14T |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,808 (GRCm39) |
V337A |
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,890,060 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
C |
7: 107,654,642 (GRCm39) |
F151S |
probably damaging |
Het |
| Or2h2c |
A |
G |
17: 37,422,227 (GRCm39) |
Y216H |
probably damaging |
Het |
| Or4a68 |
G |
A |
2: 89,269,727 (GRCm39) |
L299F |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,777,623 (GRCm39) |
K154* |
probably null |
Het |
| Prkch |
C |
T |
12: 73,822,290 (GRCm39) |
P630S |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,411 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
A |
14: 55,840,851 (GRCm39) |
D884E |
probably damaging |
Het |
| Semp2l2a |
T |
G |
8: 13,886,736 (GRCm39) |
I452L |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,903,815 (GRCm39) |
N107K |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,540,597 (GRCm39) |
A1468D |
probably damaging |
Het |
| Tmem185b |
T |
A |
1: 119,454,781 (GRCm39) |
F181I |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,958,351 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
| Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
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 |
|
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'- ACCCTGTGGTGTTTATGCAG -3'
(R):5'- AAAGTAGTCCCCTGTCGCTC -3'
Sequencing Primer
(F):5'- TCGAGATTGCGCACACTC -3'
(R):5'- CCATCGATGGCATGAGTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation