Incidental Mutation 'R4205:Elavl1'
| ID |
318875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl1
|
| Ensembl Gene |
ENSMUSG00000040028 |
| Gene Name |
ELAV like RNA binding protein 1 |
| Synonyms |
HuR, Hua, ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R), 2410055N02Rik, W91709 |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4335382-4375413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4339851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 244
(W244R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098950]
[ENSMUST00000209010]
|
| AlphaFold |
P70372 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098950
AA Change: W244R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: W244R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
21 |
94 |
1.3e-22 |
SMART |
|
RRM
|
107 |
182 |
1.91e-20 |
SMART |
|
RRM
|
245 |
318 |
6.15e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209010
AA Change: W244R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.8594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to placental failure resulting from extraembryonic trophoblast defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
Het |
|
| Other mutations in Elavl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Elavl1
|
APN |
8 |
4,351,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02409:Elavl1
|
APN |
8 |
4,339,838 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0759:Elavl1
|
UTSW |
8 |
4,339,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:Elavl1
|
UTSW |
8 |
4,339,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Elavl1
|
UTSW |
8 |
4,351,752 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5009:Elavl1
|
UTSW |
8 |
4,351,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5073:Elavl1
|
UTSW |
8 |
4,351,741 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6614:Elavl1
|
UTSW |
8 |
4,339,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Elavl1
|
UTSW |
8 |
4,361,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7204:Elavl1
|
UTSW |
8 |
4,361,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7305:Elavl1
|
UTSW |
8 |
4,375,199 (GRCm39) |
unclassified |
probably benign |
|
|
R7881:Elavl1
|
UTSW |
8 |
4,361,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Elavl1
|
UTSW |
8 |
4,351,756 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8310:Elavl1
|
UTSW |
8 |
4,351,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8372:Elavl1
|
UTSW |
8 |
4,339,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8390:Elavl1
|
UTSW |
8 |
4,339,623 (GRCm39) |
nonsense |
probably null |
|
|
R8534:Elavl1
|
UTSW |
8 |
4,339,864 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8556:Elavl1
|
UTSW |
8 |
4,345,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATGGCCATTGCAGCTTC -3'
(R):5'- CTTGAGCATCTCCAGCTCAG -3'
Sequencing Primer
(F):5'- ATGGCCATTGCAGCTTCTTCATAG -3'
(R):5'- ATGAGAGGCCCAAGTGTCCTTAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation