Incidental Mutation 'R8020:Evl'
ID |
617321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evl
|
Ensembl Gene |
ENSMUSG00000021262 |
Gene Name |
Ena-vasodilator stimulated phosphoprotein |
Synonyms |
b2b2600Clo |
MMRRC Submission |
067459-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8020 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
108520979-108654775 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 108647783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 295
(R295*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021689]
[ENSMUST00000077735]
[ENSMUST00000109854]
[ENSMUST00000172409]
[ENSMUST00000223109]
|
AlphaFold |
P70429 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021689
AA Change: R308*
|
SMART Domains |
Protein: ENSMUSP00000021689 Gene: ENSMUSG00000021262 AA Change: R308*
Domain | Start | End | E-Value | Type |
WH1
|
1 |
109 |
7.72e-53 |
SMART |
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
Pfam:VASP_tetra
|
375 |
411 |
2.6e-21 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077735
AA Change: R308*
|
SMART Domains |
Protein: ENSMUSP00000076916 Gene: ENSMUSG00000021262 AA Change: R308*
Domain | Start | End | E-Value | Type |
WH1
|
1 |
109 |
7.72e-53 |
SMART |
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
Pfam:VASP_tetra
|
353 |
392 |
2e-26 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109854
AA Change: R314*
|
SMART Domains |
Protein: ENSMUSP00000105480 Gene: ENSMUSG00000021262 AA Change: R314*
Domain | Start | End | E-Value | Type |
WH1
|
7 |
115 |
1.87e-51 |
SMART |
low complexity region
|
178 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
low complexity region
|
246 |
257 |
N/A |
INTRINSIC |
Pfam:VASP_tetra
|
359 |
398 |
7.1e-27 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172409
AA Change: R295*
|
SMART Domains |
Protein: ENSMUSP00000133072 Gene: ENSMUSG00000021262 AA Change: R295*
Domain | Start | End | E-Value | Type |
WH1
|
1 |
96 |
5.82e-39 |
SMART |
low complexity region
|
159 |
191 |
N/A |
INTRINSIC |
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
Pfam:VASP_tetra
|
361 |
400 |
1.6e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222255
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223109
AA Change: R295*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223548
|
Meta Mutation Damage Score |
0.9757 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent defects in gross morphology or histology. Mice homozygous for a different knock-out allele are viable and fertile but display defects in monocyte migration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,870,594 (GRCm39) |
V32A |
probably benign |
Het |
Atp8b1 |
A |
G |
18: 64,679,084 (GRCm39) |
L799S |
probably damaging |
Het |
Atxn7l1 |
C |
T |
12: 33,375,952 (GRCm39) |
A82V |
probably benign |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,483,989 (GRCm39) |
D201E |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
Gng11 |
C |
T |
6: 4,008,077 (GRCm39) |
R47C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,755,995 (GRCm39) |
V71A |
probably benign |
Het |
Ighd |
A |
T |
12: 113,378,168 (GRCm39) |
S144T |
probably benign |
Het |
Il2rb |
T |
C |
15: 78,369,204 (GRCm39) |
Y249C |
probably benign |
Het |
Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lrrc27 |
C |
T |
7: 138,816,793 (GRCm39) |
S397L |
probably damaging |
Het |
Ms4a6d |
T |
C |
19: 11,567,472 (GRCm39) |
E143G |
probably benign |
Het |
Mtif3 |
A |
G |
5: 146,895,713 (GRCm39) |
Y125H |
probably damaging |
Het |
Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
Prkcd |
G |
A |
14: 30,331,201 (GRCm39) |
T58M |
possibly damaging |
Het |
Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,287,363 (GRCm39) |
F583L |
probably benign |
Het |
Prrx1 |
T |
C |
1: 163,075,831 (GRCm39) |
N245S |
probably damaging |
Het |
Rfc1 |
A |
T |
5: 65,429,521 (GRCm39) |
I922N |
probably damaging |
Het |
Rplp0 |
T |
C |
5: 115,698,903 (GRCm39) |
V53A |
probably benign |
Het |
Sis |
A |
G |
3: 72,816,298 (GRCm39) |
|
probably null |
Het |
Slc12a1 |
T |
C |
2: 125,020,022 (GRCm39) |
F411S |
possibly damaging |
Het |
Slc30a9 |
G |
T |
5: 67,464,376 (GRCm39) |
|
probably benign |
Het |
Slc35d2 |
A |
G |
13: 64,254,857 (GRCm39) |
I207T |
probably benign |
Het |
Tbc1d14 |
G |
T |
5: 36,729,187 (GRCm39) |
H60N |
probably benign |
Het |
Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
Zfp981 |
A |
G |
4: 146,621,825 (GRCm39) |
D250G |
possibly damaging |
Het |
|
Other mutations in Evl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02546:Evl
|
APN |
12 |
108,614,678 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03391:Evl
|
APN |
12 |
108,642,358 (GRCm39) |
splice site |
probably null |
|
Graphite
|
UTSW |
12 |
108,647,814 (GRCm39) |
critical splice donor site |
probably null |
|
Husk
|
UTSW |
12 |
108,614,719 (GRCm39) |
missense |
probably damaging |
1.00 |
Pencil
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
Shaving
|
UTSW |
12 |
108,614,567 (GRCm39) |
splice site |
probably benign |
|
R0366:Evl
|
UTSW |
12 |
108,652,307 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0603:Evl
|
UTSW |
12 |
108,614,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Evl
|
UTSW |
12 |
108,619,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R3431:Evl
|
UTSW |
12 |
108,614,567 (GRCm39) |
splice site |
probably benign |
|
R3432:Evl
|
UTSW |
12 |
108,614,567 (GRCm39) |
splice site |
probably benign |
|
R4915:Evl
|
UTSW |
12 |
108,652,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5137:Evl
|
UTSW |
12 |
108,647,781 (GRCm39) |
missense |
probably benign |
0.00 |
R5688:Evl
|
UTSW |
12 |
108,639,612 (GRCm39) |
critical splice donor site |
probably null |
|
R5933:Evl
|
UTSW |
12 |
108,649,516 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5950:Evl
|
UTSW |
12 |
108,641,812 (GRCm39) |
missense |
probably benign |
0.16 |
R6144:Evl
|
UTSW |
12 |
108,619,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Evl
|
UTSW |
12 |
108,614,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Evl
|
UTSW |
12 |
108,652,824 (GRCm39) |
missense |
unknown |
|
R7639:Evl
|
UTSW |
12 |
108,652,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Evl
|
UTSW |
12 |
108,614,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R7968:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R7970:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R7972:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R7973:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8017:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8019:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8046:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8105:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8122:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8123:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8124:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8125:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8126:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
R8298:Evl
|
UTSW |
12 |
108,619,232 (GRCm39) |
missense |
probably benign |
0.21 |
R9199:Evl
|
UTSW |
12 |
108,647,814 (GRCm39) |
critical splice donor site |
probably null |
|
R9484:Evl
|
UTSW |
12 |
108,652,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9650:Evl
|
UTSW |
12 |
108,641,698 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGCCTAGTGATGTAAGGATTG -3'
(R):5'- CTTAGCTGGACCAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGTGCTCTTGACTGAGAGACATAGAC -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'
|
Posted On |
2020-01-23 |