Incidental Mutation 'IGL01777:Elavl4'
| ID |
154130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elavl4
|
| Ensembl Gene |
ENSMUSG00000028546 |
| Gene Name |
ELAV like RNA binding protein 4 |
| Synonyms |
Hud |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.417)
|
| Stock # |
IGL01777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
110060919-110209106 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 110063858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102722]
[ENSMUST00000102723]
[ENSMUST00000106597]
[ENSMUST00000106598]
[ENSMUST00000106600]
[ENSMUST00000106601]
[ENSMUST00000106603]
|
| AlphaFold |
Q61701 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102722
|
| SMART Domains |
Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
33 |
N/A |
INTRINSIC |
|
RRM
|
52 |
125 |
7.57e-24 |
SMART |
|
RRM
|
138 |
213 |
1.35e-20 |
SMART |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
RRM
|
289 |
362 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102723
AA Change: R272W
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: R272W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
RRM
|
47 |
120 |
7.57e-24 |
SMART |
|
RRM
|
133 |
208 |
1.35e-20 |
SMART |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
RRM
|
298 |
371 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106597
AA Change: R277W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: R277W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
33 |
N/A |
INTRINSIC |
|
RRM
|
52 |
125 |
7.57e-24 |
SMART |
|
RRM
|
138 |
213 |
1.35e-20 |
SMART |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
RRM
|
303 |
376 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106598
|
| SMART Domains |
Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
RRM
|
47 |
120 |
7.57e-24 |
SMART |
|
RRM
|
133 |
208 |
1.35e-20 |
SMART |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
RRM
|
284 |
357 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106600
|
| SMART Domains |
Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
RRM
|
64 |
137 |
7.57e-24 |
SMART |
|
RRM
|
150 |
225 |
1.35e-20 |
SMART |
|
low complexity region
|
231 |
245 |
N/A |
INTRINSIC |
|
RRM
|
301 |
374 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106601
|
| SMART Domains |
Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
RRM
|
47 |
120 |
7.57e-24 |
SMART |
|
RRM
|
133 |
208 |
1.35e-20 |
SMART |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
RRM
|
284 |
357 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106603
|
| SMART Domains |
Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
RRM
|
50 |
123 |
7.57e-24 |
SMART |
|
RRM
|
136 |
211 |
1.35e-20 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
RRM
|
274 |
347 |
2.37e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153200
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display increased neural progenitor self-renewal and impaired neuronal differentiation, partial penetrance of hind limb clasping, and impaired coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
| Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
| Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
| Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
| Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
| Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
| Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
| Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
Het |
|
| Other mutations in Elavl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Elavl4
|
APN |
4 |
110,063,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02212:Elavl4
|
APN |
4 |
110,063,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Elavl4
|
APN |
4 |
110,108,691 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0386:Elavl4
|
UTSW |
4 |
110,063,902 (GRCm39) |
intron |
probably benign |
|
|
R1141:Elavl4
|
UTSW |
4 |
110,108,565 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Elavl4
|
UTSW |
4 |
110,108,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Elavl4
|
UTSW |
4 |
110,149,833 (GRCm39) |
missense |
probably null |
0.22 |
|
R5294:Elavl4
|
UTSW |
4 |
110,068,627 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5507:Elavl4
|
UTSW |
4 |
110,070,403 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5558:Elavl4
|
UTSW |
4 |
110,063,800 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5927:Elavl4
|
UTSW |
4 |
110,147,440 (GRCm39) |
unclassified |
probably benign |
|
|
R5987:Elavl4
|
UTSW |
4 |
110,147,841 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6376:Elavl4
|
UTSW |
4 |
110,112,651 (GRCm39) |
start gained |
probably benign |
|
|
R6504:Elavl4
|
UTSW |
4 |
110,112,579 (GRCm39) |
splice site |
probably null |
|
|
R6987:Elavl4
|
UTSW |
4 |
110,108,602 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7278:Elavl4
|
UTSW |
4 |
110,068,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7431:Elavl4
|
UTSW |
4 |
110,083,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7717:Elavl4
|
UTSW |
4 |
110,063,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7979:Elavl4
|
UTSW |
4 |
110,068,845 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8516:Elavl4
|
UTSW |
4 |
110,108,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Elavl4
|
UTSW |
4 |
110,063,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Elavl4
|
UTSW |
4 |
110,108,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation