Incidental Mutation 'R7979:Elavl4'
| ID |
651067 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
110060919-110209106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110068845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 176
(V176D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102722]
[ENSMUST00000102723]
[ENSMUST00000106597]
[ENSMUST00000106598]
[ENSMUST00000106600]
[ENSMUST00000106601]
[ENSMUST00000106603]
[ENSMUST00000138972]
|
| AlphaFold |
Q61701 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102722
AA Change: V176D
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: V176D
| 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: V171D
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: V171D
| 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: V176D
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: V176D
| 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: V171D
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: V171D
| 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: V188D
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: V188D
| 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: V171D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: V171D
| 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: ENSMUST00000106603
AA Change: V174D
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: V174D
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
| Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
| Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
| Chpf |
A |
T |
1: 75,453,904 (GRCm39) |
C291* |
probably null |
Het |
| Cr1l |
T |
C |
1: 194,800,030 (GRCm39) |
T215A |
probably damaging |
Het |
| Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
| Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
| Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
| Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
| Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
| Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
G |
A |
15: 98,026,117 (GRCm39) |
E571K |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
| Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
| Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
| Zfp451 |
G |
A |
1: 33,821,219 (GRCm39) |
S211L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
| Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
| Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
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 |
|
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 |
PCR Primer
(F):5'- CCTGAATCTTTGAGCCTGGTG -3'
(R):5'- TTGGAGACATCTGCCCAGAG -3'
Sequencing Primer
(F):5'- CCAGGGTATCGCCTGTTG -3'
(R):5'- CAGAGCAATGCCGGCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation