Incidental Mutation 'IGL03053:Elavl4'
| ID | 409143 |
|---|
| 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 | |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.415)
|
|---|
| Stock # | IGL03053
|
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| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 4 |
|---|
| Chromosomal Location | 110203722-110351909 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 110251494 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Serine to Threonine
at position 16
(S16T)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102214
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102722]
[ENSMUST00000102723]
[ENSMUST00000106597]
[ENSMUST00000106598]
[ENSMUST00000106600]
[ENSMUST00000106601]
[ENSMUST00000106603]
[ENSMUST00000138972]
[ENSMUST00000142722]
[ENSMUST00000153906]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102722
AA Change: S18T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: S18T
| 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: S13T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: S13T
| 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 benign
Transcript: ENSMUST00000106597
AA Change: S18T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: S18T
| 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 benign
Transcript: ENSMUST00000106598
AA Change: S13T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: S13T
| 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 benign
Transcript: ENSMUST00000106600
AA Change: S30T
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: S30T
| 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 benign
Transcript: ENSMUST00000106601
AA Change: S13T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: S13T
| 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 |
possibly damaging
Transcript: ENSMUST00000106603
AA Change: S16T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
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| SMART Domains |
Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: S16T
| 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 benign
Transcript: ENSMUST00000138972
AA Change: S11T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546
AA Change: S11T
| 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: ENSMUST00000142722
AA Change: S26T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
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| SMART Domains |
Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
AA Change: S26T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
61 |
92 |
1.8e-7 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144554
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000153906
AA Change: S11T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546
AA Change: S11T
| 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 |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
A |
4: 106,755,853 |
Q342* |
probably null |
Het |
| Arglu1 |
T |
A |
8: 8,683,960 |
I119L |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,278,356 |
T914I |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,565,972 |
R409C |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 96,017,677 |
S1318R |
possibly damaging |
Het |
| C1qtnf12 |
A |
T |
4: 155,966,464 |
N297Y |
probably damaging |
Het |
| Cbwd1 |
T |
A |
19: 24,955,377 |
E97D |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,313,550 |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,230,037 |
M106I |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,098,734 |
V112A |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 73,805,442 |
Y67C |
probably damaging |
Het |
| F2rl1 |
A |
C |
13: 95,513,618 |
V252G |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,926,809 |
|
probably benign |
Het |
| Hc |
G |
T |
2: 35,024,198 |
N832K |
probably benign |
Het |
| Hnf1a |
T |
A |
5: 114,970,733 |
M38L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,752,088 |
N793S |
probably benign |
Het |
| Kit |
A |
G |
5: 75,610,914 |
N244D |
probably benign |
Het |
| Mb21d1 |
A |
T |
9: 78,437,437 |
F234Y |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,923,450 |
E60G |
possibly damaging |
Het |
| Obsl1 |
T |
C |
1: 75,493,079 |
H1098R |
probably benign |
Het |
| Olfr1094 |
A |
G |
2: 86,829,263 |
I170M |
possibly damaging |
Het |
| Olfr1178 |
A |
G |
2: 88,391,594 |
M116V |
probably damaging |
Het |
| Olfr1230 |
A |
C |
2: 89,296,445 |
I275S |
probably damaging |
Het |
| Olfr138 |
A |
C |
17: 38,274,791 |
S7R |
probably damaging |
Het |
| Olfr166 |
A |
T |
16: 19,487,219 |
H127L |
probably benign |
Het |
| Olfr198 |
A |
G |
16: 59,202,247 |
Y60H |
probably damaging |
Het |
| Olfr215 |
T |
C |
6: 116,582,245 |
R234G |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,143,601 |
I42T |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,850,263 |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,834,166 |
I3806V |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,407,332 |
|
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,955,817 |
D734E |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 181,351,944 |
K619E |
probably benign |
Het |
| Tnfrsf26 |
T |
C |
7: 143,614,860 |
D147G |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,275,833 |
I110T |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,092,074 |
S151P |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,823,118 |
Y755C |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 108,946,500 |
V1394A |
probably damaging |
Het |
| Zzef1 |
G |
T |
11: 72,831,539 |
|
probably benign |
Het |
|
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| Other mutations in Elavl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Elavl4
|
APN |
4 |
110206612 |
missense |
probably benign |
0.03 |
|
IGL01777:Elavl4
|
APN |
4 |
110206661 |
critical splice acceptor site |
probably null |
|
|
IGL02212:Elavl4
|
APN |
4 |
110206412 |
missense |
probably damaging |
1.00 |
|
R0386:Elavl4
|
UTSW |
4 |
110206705 |
intron |
probably benign |
|
|
R1141:Elavl4
|
UTSW |
4 |
110251368 |
nonsense |
probably null |
|
|
R1826:Elavl4
|
UTSW |
4 |
110251292 |
missense |
probably damaging |
1.00 |
|
R5155:Elavl4
|
UTSW |
4 |
110292636 |
missense |
probably null |
0.22 |
|
R5294:Elavl4
|
UTSW |
4 |
110211430 |
missense |
possibly damaging |
0.90 |
|
R5507:Elavl4
|
UTSW |
4 |
110213206 |
missense |
probably benign |
0.17 |
|
R5558:Elavl4
|
UTSW |
4 |
110206603 |
missense |
probably benign |
0.37 |
|
R5927:Elavl4
|
UTSW |
4 |
110290243 |
unclassified |
probably benign |
|
|
R5987:Elavl4
|
UTSW |
4 |
110290644 |
missense |
probably benign |
0.40 |
|
R6376:Elavl4
|
UTSW |
4 |
110255454 |
start gained |
probably benign |
|
|
R6504:Elavl4
|
UTSW |
4 |
110255382 |
splice site |
probably null |
|
|
R6987:Elavl4
|
UTSW |
4 |
110251405 |
missense |
possibly damaging |
0.70 |
|
R7278:Elavl4
|
UTSW |
4 |
110211425 |
critical splice donor site |
probably null |
|
|
R7431:Elavl4
|
UTSW |
4 |
110226633 |
missense |
probably damaging |
1.00 |
|
R7717:Elavl4
|
UTSW |
4 |
110206466 |
missense |
probably damaging |
1.00 |
|
R7979:Elavl4
|
UTSW |
4 |
110211648 |
missense |
probably benign |
0.12 |
|
R8516:Elavl4
|
UTSW |
4 |
110251379 |
missense |
probably damaging |
1.00 |
|
|---|
| Posted On | 2016-08-02 |
|---|
