Incidental Mutation 'R9216:Elavl4'
| ID |
699178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl4
|
| Ensembl Gene |
ENSMUSG00000028546 |
| Gene Name |
ELAV like RNA binding protein 4 |
| Synonyms |
Hud |
| MMRRC Submission |
068958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.417)
|
| Stock # |
R9216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
110060919-110209106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110108546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 66
(E66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102722]
[ENSMUST00000102723]
[ENSMUST00000106597]
[ENSMUST00000106598]
[ENSMUST00000106600]
[ENSMUST00000106601]
[ENSMUST00000106603]
[ENSMUST00000138972]
[ENSMUST00000142722]
[ENSMUST00000153906]
|
| AlphaFold |
Q61701 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102722
AA Change: E66G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: E66G
| 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 damaging
Transcript: ENSMUST00000102723
AA Change: E61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: E61G
| 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: E66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: E66G
| 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 damaging
Transcript: ENSMUST00000106598
AA Change: E61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: E61G
| 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 damaging
Transcript: ENSMUST00000106600
AA Change: E78G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: E78G
| 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 damaging
Transcript: ENSMUST00000106601
AA Change: E61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: E61G
| 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 damaging
Transcript: ENSMUST00000106603
AA Change: E64G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: E64G
| 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 damaging
Transcript: ENSMUST00000138972
AA Change: E59G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546
AA Change: E59G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
RRM
|
45 |
118 |
7.57e-24 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142722
AA Change: E74G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
AA Change: E74G
| 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 |
probably damaging
Transcript: ENSMUST00000153906
AA Change: E59G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546
AA Change: E59G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 52,927,668 (GRCm39) |
T193S |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,049 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,165,423 (GRCm39) |
V273A |
probably benign |
Het |
| Bag3 |
C |
A |
7: 128,143,923 (GRCm39) |
D306E |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,177,514 (GRCm39) |
P2076S |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,563 (GRCm39) |
L541V |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,820,465 (GRCm39) |
D492V |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,615 (GRCm39) |
S563N |
possibly damaging |
Het |
| Cnn1 |
C |
G |
9: 22,019,474 (GRCm39) |
L281V |
probably benign |
Het |
| Egflam |
G |
A |
15: 7,281,942 (GRCm39) |
T398I |
probably benign |
Het |
| Eif4g2 |
T |
G |
7: 110,673,415 (GRCm39) |
D788A |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,276,887 (GRCm39) |
D87V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,820,425 (GRCm39) |
D5386V |
probably damaging |
Het |
| Ftl1 |
A |
C |
7: 45,108,959 (GRCm39) |
S33A |
probably benign |
Het |
| Gm21560 |
T |
C |
14: 6,218,338 (GRCm38) |
R47G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,429 (GRCm39) |
C162S |
probably benign |
Het |
| Katnip |
T |
A |
7: 125,471,926 (GRCm39) |
I1531N |
probably damaging |
Het |
| Kremen2 |
C |
T |
17: 23,962,781 (GRCm39) |
A102T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,972 (GRCm39) |
Q480L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,823,188 (GRCm39) |
C1387R |
probably benign |
Het |
| Nmi |
A |
G |
2: 51,846,003 (GRCm39) |
V93A |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,117,397 (GRCm39) |
K484R |
possibly damaging |
Het |
| Olig1 |
T |
C |
16: 91,066,915 (GRCm39) |
S51P |
probably benign |
Het |
| Or6c76 |
A |
T |
10: 129,611,796 (GRCm39) |
R4S |
probably benign |
Het |
| Pah |
G |
T |
10: 87,357,888 (GRCm39) |
V4F |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
A |
T |
5: 94,450,952 (GRCm39) |
N391K |
possibly damaging |
Het |
| Prox1 |
C |
A |
1: 189,892,905 (GRCm39) |
E513D |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,539 (GRCm39) |
N214S |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,108,628 (GRCm39) |
S505G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,801,277 (GRCm39) |
L829H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,304,401 (GRCm39) |
D852E |
|
Het |
| Senp2 |
T |
C |
16: 21,847,344 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
A |
G |
1: 55,051,376 (GRCm39) |
V184A |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,955 (GRCm39) |
T1226A |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,637,692 (GRCm39) |
R406H |
probably damaging |
Het |
| Slc26a4 |
C |
A |
12: 31,578,659 (GRCm39) |
V665L |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,647,611 (GRCm39) |
Y932C |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,936,814 (GRCm39) |
N97I |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,748,504 (GRCm39) |
S4182P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,534,514 (GRCm39) |
S138P |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,292,285 (GRCm39) |
A393T |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,689,229 (GRCm39) |
P19T |
probably benign |
Het |
| Vcl |
T |
G |
14: 21,033,515 (GRCm39) |
L157W |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,703 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,257 (GRCm39) |
M240K |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,112 (GRCm39) |
S154T |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,974,724 (GRCm39) |
N37D |
probably benign |
Het |
| Zfc3h1 |
C |
G |
10: 115,221,528 (GRCm39) |
D142E |
unknown |
Het |
| Zmym6 |
T |
C |
4: 127,002,500 (GRCm39) |
V577A |
probably benign |
Het |
| Zxdc |
C |
A |
6: 90,359,189 (GRCm39) |
T607K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCCTGTGATGTACATGTG -3'
(R):5'- TAATTAGCACCATGGAGCCTCAG -3'
Sequencing Primer
(F):5'- GTGTATGCACACGATCCTTATATG -3'
(R):5'- TCAGGTGTCAAATGGACCGACATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation