Incidental Mutation 'IGL01120:Elavl2'
| ID |
50930 |
| 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 # |
IGL01120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
91139000-91289022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91152309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 136
(M136K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000107124]
[ENSMUST00000107120]
[ENSMUST00000177109]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008633
AA Change: M136K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: M136K
| 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 |
possibly damaging
Transcript: ENSMUST00000102799
AA Change: M150K
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: M150K
| 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: M136K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: M136K
| 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: M136K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: M136K
| 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: M136K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: M136K
| 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: M165K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: M165K
| 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: M165K
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: M165K
| 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: ENSMUST00000107124
AA Change: M136K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: M136K
| 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: ENSMUST00000107120
AA Change: M165K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: M165K
| 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: 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 |
|---|
| Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
| Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
T |
12: 17,358,294 (GRCm39) |
E88K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,039,671 (GRCm39) |
S315T |
probably damaging |
Het |
| Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
| Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
| Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
| Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
| Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
| Ptcd1 |
C |
T |
5: 145,089,053 (GRCm39) |
|
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
| Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,876,472 (GRCm39) |
L648P |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
| Slc34a1 |
T |
A |
13: 55,556,884 (GRCm39) |
L241H |
probably damaging |
Het |
| Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
| Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
| Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
| Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
| Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
probably benign |
Het |
|
| Other mutations in Elavl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02024:Elavl2
|
APN |
4 |
91,141,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2013-06-21 |
Incidental Mutation