Incidental Mutation 'R8105:Evl'
| ID |
630694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evl
|
| Ensembl Gene |
ENSMUSG00000021262 |
| Gene Name |
Ena-vasodilator stimulated phosphoprotein |
| Synonyms |
b2b2600Clo |
| MMRRC Submission |
067536-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8105 (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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (29/29) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
G |
A |
17: 5,341,518 (GRCm39) |
A941T |
possibly damaging |
Het |
| Calb1 |
A |
T |
4: 15,900,767 (GRCm39) |
|
probably null |
Het |
| Cc2d1b |
T |
C |
4: 108,485,130 (GRCm39) |
S518P |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,598,438 (GRCm39) |
V975I |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,567 (GRCm39) |
W62R |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,027,505 (GRCm39) |
Y276H |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,372,548 (GRCm39) |
V2933A |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,847 (GRCm39) |
T253A |
unknown |
Het |
| Fndc3b |
G |
A |
3: 27,524,374 (GRCm39) |
T462I |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,395,354 (GRCm39) |
N359K |
probably damaging |
Het |
| Gmppa |
T |
C |
1: 75,413,641 (GRCm39) |
V34A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,255,949 (GRCm39) |
T484A |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,510 (GRCm39) |
E264G |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,569,588 (GRCm39) |
F182S |
probably benign |
Het |
| Ly9 |
G |
C |
1: 171,432,890 (GRCm39) |
|
probably null |
Het |
| Meox2 |
C |
T |
12: 37,159,061 (GRCm39) |
H78Y |
possibly damaging |
Het |
| Mynn |
G |
A |
3: 30,665,628 (GRCm39) |
C420Y |
possibly damaging |
Het |
| Or52e18 |
C |
G |
7: 104,609,629 (GRCm39) |
M103I |
probably benign |
Het |
| Rfx1 |
C |
G |
8: 84,814,505 (GRCm39) |
A358G |
possibly damaging |
Het |
| Rnf151 |
G |
A |
17: 24,935,400 (GRCm39) |
T177I |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,682,748 (GRCm39) |
N578H |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,948,925 (GRCm39) |
I240M |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,538,231 (GRCm39) |
V1824I |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,476 (GRCm39) |
F208L |
probably benign |
Het |
| Vldlr |
C |
T |
19: 27,216,204 (GRCm39) |
Q342* |
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,245 (GRCm39) |
F274L |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,915,352 (GRCm39) |
L435P |
probably 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 |
|
|
R8020:Evl
|
UTSW |
12 |
108,647,783 (GRCm39) |
nonsense |
probably null |
|
|
R8046: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'- CAGCCTAGTGATGTAAGGATTGTG -3'
(R):5'- TTAGCTGGACCAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGCTCTTGACTGAGAGACATAGACTG -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation