Incidental Mutation 'IGL01886:Elavl2'
| ID |
179140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elavl2
|
| Ensembl Gene |
ENSMUSG00000008489 |
| Gene Name |
ELAV like RNA binding protein 1 |
| Synonyms |
mel-N1, Hub |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
IGL01886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
91250763-91400785 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91264093 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000107120]
[ENSMUST00000107124]
[ENSMUST00000177109]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008633
AA Change: V129A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
278 |
351 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102799
AA Change: V143A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: V143A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
54 |
127 |
1.44e-24 |
SMART |
|
RRM
|
140 |
215 |
2.35e-20 |
SMART |
|
RRM
|
291 |
364 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107109
AA Change: V129A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107110
AA Change: V129A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
265 |
338 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107111
AA Change: V129A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
264 |
337 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107116
AA Change: V158A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: V158A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
307 |
380 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107118
AA Change: V158A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: V158A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
294 |
367 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107120
AA Change: V158A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: V158A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
306 |
379 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107124
AA Change: V129A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177109
|
| SMART Domains |
Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
C |
T |
12: 112,659,158 (GRCm38) |
V136M |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,730,265 (GRCm38) |
L8M |
possibly damaging |
Het |
| Anks6 |
C |
A |
4: 47,044,850 (GRCm38) |
W352L |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,027,613 (GRCm38) |
N768K |
probably damaging |
Het |
| C130026I21Rik |
A |
G |
1: 85,254,186 (GRCm38) |
|
probably benign |
Het |
| Clec7a |
A |
T |
6: 129,463,177 (GRCm38) |
|
probably benign |
Het |
| Cyp3a13 |
G |
A |
5: 137,898,820 (GRCm38) |
P411S |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,569,580 (GRCm38) |
S994T |
possibly damaging |
Het |
| Esco1 |
T |
A |
18: 10,595,262 (GRCm38) |
K8I |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,856,861 (GRCm38) |
I259K |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,571,250 (GRCm38) |
I734V |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm38) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,702,814 (GRCm38) |
I891F |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,306,133 (GRCm38) |
T27A |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,561,016 (GRCm38) |
|
probably null |
Het |
| Kifc5b |
T |
C |
17: 26,932,117 (GRCm38) |
V663A |
probably damaging |
Het |
| Lama1 |
T |
G |
17: 67,807,797 (GRCm38) |
S2314A |
probably benign |
Het |
| Lrrc69 |
C |
T |
4: 14,703,984 (GRCm38) |
V279I |
probably benign |
Het |
| Mast3 |
A |
T |
8: 70,782,139 (GRCm38) |
L774Q |
possibly damaging |
Het |
| Med27 |
C |
A |
2: 29,413,482 (GRCm38) |
P9Q |
probably damaging |
Het |
| Myo5a |
C |
A |
9: 75,169,090 (GRCm38) |
|
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,655,309 (GRCm38) |
K14E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,183,845 (GRCm38) |
|
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,123,501 (GRCm38) |
T308A |
probably benign |
Het |
| Olfr364-ps1 |
A |
G |
2: 37,146,509 (GRCm38) |
Y99C |
probably damaging |
Het |
| Olfr926 |
G |
T |
9: 38,877,548 (GRCm38) |
C124F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,603,957 (GRCm38) |
|
probably null |
Het |
| Pnkp |
G |
A |
7: 44,862,207 (GRCm38) |
A76T |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,917,390 (GRCm38) |
E95G |
probably damaging |
Het |
| Prpf40b |
T |
A |
15: 99,304,447 (GRCm38) |
M62K |
unknown |
Het |
| Prpf8 |
C |
A |
11: 75,495,744 (GRCm38) |
Q1075K |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,179,280 (GRCm38) |
K766E |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,342,042 (GRCm38) |
N778K |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,139,385 (GRCm38) |
N204K |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,531,663 (GRCm38) |
K650E |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,984,315 (GRCm38) |
S758T |
probably damaging |
Het |
| Slu7 |
T |
G |
11: 43,439,260 (GRCm38) |
N171K |
probably damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,790,126 (GRCm38) |
|
probably null |
Het |
| Taf6l |
C |
T |
19: 8,778,086 (GRCm38) |
|
probably null |
Het |
| Ubtfl1 |
G |
A |
9: 18,409,721 (GRCm38) |
V182M |
possibly damaging |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Elavl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Elavl2
|
APN |
4 |
91,264,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02016:Elavl2
|
APN |
4 |
91,260,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02024:Elavl2
|
APN |
4 |
91,253,539 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02860:Elavl2
|
APN |
4 |
91,260,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0458:Elavl2
|
UTSW |
4 |
91,308,867 (GRCm38) |
splice site |
probably benign |
|
|
R1294:Elavl2
|
UTSW |
4 |
91,311,589 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1778:Elavl2
|
UTSW |
4 |
91,253,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Elavl2
|
UTSW |
4 |
91,253,450 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2190:Elavl2
|
UTSW |
4 |
91,264,094 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3773:Elavl2
|
UTSW |
4 |
91,264,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4473:Elavl2
|
UTSW |
4 |
91,261,009 (GRCm38) |
splice site |
probably null |
|
|
R4784:Elavl2
|
UTSW |
4 |
91,254,142 (GRCm38) |
missense |
probably null |
0.97 |
|
R4911:Elavl2
|
UTSW |
4 |
91,308,678 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5396:Elavl2
|
UTSW |
4 |
91,260,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6708:Elavl2
|
UTSW |
4 |
91,253,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6882:Elavl2
|
UTSW |
4 |
91,308,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7592:Elavl2
|
UTSW |
4 |
91,311,571 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7849:Elavl2
|
UTSW |
4 |
91,372,043 (GRCm38) |
unclassified |
probably benign |
|
|
R9051:Elavl2
|
UTSW |
4 |
91,311,610 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9381:Elavl2
|
UTSW |
4 |
91,308,772 (GRCm38) |
missense |
probably benign |
|
|
R9727:Elavl2
|
UTSW |
4 |
91,281,258 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation