Incidental Mutation 'IGL02024:Elavl2'
| ID |
184101 |
| 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: 0.412)
|
| Stock # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
91139000-91289022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91141776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 291
(T291A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000107124]
[ENSMUST00000107120]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008633
AA Change: T262A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: T262A
| 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 benign
Transcript: ENSMUST00000102799
AA Change: T275A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: T275A
| 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 benign
Transcript: ENSMUST00000107109
AA Change: T261A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: T261A
| 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 benign
Transcript: ENSMUST00000107110
AA Change: T249A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: T249A
| 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 benign
Transcript: ENSMUST00000107111
AA Change: T248A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: T248A
| 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 benign
Transcript: ENSMUST00000107116
AA Change: T291A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: T291A
| 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 benign
Transcript: ENSMUST00000107118
AA Change: T278A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: T278A
| 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 benign
Transcript: ENSMUST00000107124
AA Change: T261A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: T261A
| 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 benign
Transcript: ENSMUST00000107120
AA Change: T290A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: T290A
| 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 |
noncoding transcript
Transcript: ENSMUST00000128599
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
Het |
|
| Other mutations in Elavl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Elavl2
|
APN |
4 |
91,152,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Elavl2
|
APN |
4 |
91,152,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Elavl2
|
APN |
4 |
91,149,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Elavl2
|
APN |
4 |
91,149,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Elavl2
|
UTSW |
4 |
91,197,104 (GRCm39) |
splice site |
probably benign |
|
|
R1294:Elavl2
|
UTSW |
4 |
91,199,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1778:Elavl2
|
UTSW |
4 |
91,141,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Elavl2
|
UTSW |
4 |
91,141,687 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2190:Elavl2
|
UTSW |
4 |
91,152,331 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3773:Elavl2
|
UTSW |
4 |
91,152,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Elavl2
|
UTSW |
4 |
91,149,246 (GRCm39) |
splice site |
probably null |
|
|
R4784:Elavl2
|
UTSW |
4 |
91,142,379 (GRCm39) |
missense |
probably null |
0.97 |
|
R4911:Elavl2
|
UTSW |
4 |
91,196,915 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5396:Elavl2
|
UTSW |
4 |
91,149,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Elavl2
|
UTSW |
4 |
91,141,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Elavl2
|
UTSW |
4 |
91,196,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7592:Elavl2
|
UTSW |
4 |
91,199,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7849:Elavl2
|
UTSW |
4 |
91,260,280 (GRCm39) |
unclassified |
probably benign |
|
|
R9051:Elavl2
|
UTSW |
4 |
91,199,847 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9381:Elavl2
|
UTSW |
4 |
91,197,009 (GRCm39) |
missense |
probably benign |
|
|
R9727:Elavl2
|
UTSW |
4 |
91,169,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation