Incidental Mutation 'R6504:Elavl4'
| ID |
526370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl4
|
| Ensembl Gene |
ENSMUSG00000028546 |
| Gene Name |
ELAV like RNA binding protein 4 |
| Synonyms |
Hud |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.438)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
110060919-110209106 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 110112579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102722]
[ENSMUST00000102723]
[ENSMUST00000106597]
[ENSMUST00000106598]
[ENSMUST00000106600]
[ENSMUST00000106601]
[ENSMUST00000106603]
[ENSMUST00000142722]
[ENSMUST00000138972]
[ENSMUST00000153906]
|
| 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 null
Transcript: ENSMUST00000102723
|
| SMART Domains |
Protein: ENSMUSP00000099784
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
|
298 |
371 |
2.37e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106597
|
| SMART Domains |
Protein: ENSMUSP00000102207
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
|
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 |
probably null
Transcript: ENSMUST00000142722
|
| SMART Domains |
Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
61 |
92 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138972
|
| SMART Domains |
Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
RRM
|
45 |
118 |
7.57e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153906
|
| SMART Domains |
Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
46 |
95 |
1.3e-14 |
PFAM |
|
Pfam:RRM_6
|
46 |
95 |
1.5e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
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 |
|
IGL01777:Elavl4
|
APN |
4 |
110,063,858 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2018-06-25 |
Incidental Mutation