Incidental Mutation 'R5688:Evl'
ID |
443521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evl
|
Ensembl Gene |
ENSMUSG00000021262 |
Gene Name |
Ena-vasodilator stimulated phosphoprotein |
Synonyms |
b2b2600Clo |
MMRRC Submission |
043321-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108520979-108654775 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 108639612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021689]
[ENSMUST00000021689]
[ENSMUST00000077735]
[ENSMUST00000109854]
[ENSMUST00000109854]
[ENSMUST00000172409]
[ENSMUST00000172409]
[ENSMUST00000223109]
|
AlphaFold |
P70429 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021689
|
SMART Domains |
Protein: ENSMUSP00000021689 Gene: ENSMUSG00000021262
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: ENSMUST00000021689
|
SMART Domains |
Protein: ENSMUSP00000021689 Gene: ENSMUSG00000021262
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
|
SMART Domains |
Protein: ENSMUSP00000076916 Gene: ENSMUSG00000021262
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
|
SMART Domains |
Protein: ENSMUSP00000105480 Gene: ENSMUSG00000021262
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: ENSMUST00000109854
|
SMART Domains |
Protein: ENSMUSP00000105480 Gene: ENSMUSG00000021262
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
|
SMART Domains |
Protein: ENSMUSP00000133072 Gene: ENSMUSG00000021262
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 null
Transcript: ENSMUST00000172409
|
SMART Domains |
Protein: ENSMUSP00000133072 Gene: ENSMUSG00000021262
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 |
noncoding transcript
Transcript: ENSMUST00000222048
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223109
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
G |
A |
7: 28,315,920 (GRCm39) |
A222V |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,979,883 (GRCm39) |
D389G |
probably benign |
Het |
Aldh1l2 |
A |
T |
10: 83,337,789 (GRCm39) |
S559T |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,576,877 (GRCm39) |
N144K |
possibly damaging |
Het |
Anp32b |
T |
A |
4: 46,469,868 (GRCm39) |
|
probably null |
Het |
Atf7 |
C |
T |
15: 102,459,944 (GRCm39) |
R57H |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,092,000 (GRCm39) |
H345L |
probably benign |
Het |
Cacna2d1 |
A |
T |
5: 16,563,950 (GRCm39) |
I859F |
probably damaging |
Het |
Calcr |
T |
A |
6: 3,714,730 (GRCm39) |
|
probably null |
Het |
Cd248 |
A |
G |
19: 5,119,963 (GRCm39) |
T604A |
probably benign |
Het |
Cemip |
C |
T |
7: 83,610,849 (GRCm39) |
V702M |
probably damaging |
Het |
Cep295 |
G |
T |
9: 15,243,282 (GRCm39) |
Q469K |
probably damaging |
Het |
Cntn5 |
A |
G |
9: 9,748,427 (GRCm39) |
W485R |
probably damaging |
Het |
Cpe |
T |
C |
8: 65,062,189 (GRCm39) |
N289S |
possibly damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,233,358 (GRCm39) |
R113C |
probably damaging |
Het |
Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
Defb7 |
T |
G |
8: 19,545,167 (GRCm39) |
L15R |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Ednrb |
T |
C |
14: 104,060,831 (GRCm39) |
D198G |
probably damaging |
Het |
Engase |
A |
C |
11: 118,378,146 (GRCm39) |
E312A |
possibly damaging |
Het |
Faf1 |
C |
A |
4: 109,652,010 (GRCm39) |
Q234K |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,953,416 (GRCm39) |
T449S |
possibly damaging |
Het |
Garre1 |
T |
G |
7: 33,984,134 (GRCm39) |
D163A |
probably damaging |
Het |
Gm5460 |
C |
A |
14: 33,767,752 (GRCm39) |
N453K |
possibly damaging |
Het |
Gm7356 |
T |
A |
17: 14,220,869 (GRCm39) |
I387F |
possibly damaging |
Het |
H1f2 |
A |
G |
13: 23,923,148 (GRCm39) |
K106R |
probably damaging |
Het |
Hagh |
T |
C |
17: 25,069,568 (GRCm39) |
M1T |
probably null |
Het |
Hars1 |
A |
T |
18: 36,905,369 (GRCm39) |
V155E |
probably damaging |
Het |
Lca5 |
C |
A |
9: 83,280,619 (GRCm39) |
D394Y |
probably benign |
Het |
Lmtk3 |
T |
C |
7: 45,440,834 (GRCm39) |
L280P |
probably damaging |
Het |
Lrit1 |
C |
T |
14: 36,784,385 (GRCm39) |
A571V |
possibly damaging |
Het |
Map4k2 |
C |
A |
19: 6,396,836 (GRCm39) |
P584H |
probably damaging |
Het |
Mgst1 |
T |
C |
6: 138,118,798 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
T |
13: 113,009,590 (GRCm39) |
C936* |
probably null |
Het |
Neb |
C |
T |
2: 52,086,339 (GRCm39) |
V5245I |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,896,867 (GRCm39) |
N918S |
probably benign |
Het |
Or4c106 |
C |
T |
2: 88,683,023 (GRCm39) |
T243I |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,552 (GRCm39) |
Q140L |
probably benign |
Het |
Or8b8 |
A |
C |
9: 37,809,359 (GRCm39) |
I220L |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,393,201 (GRCm39) |
L224P |
probably damaging |
Het |
Patj |
A |
T |
4: 98,409,047 (GRCm39) |
K34* |
probably null |
Het |
Pcf11 |
T |
A |
7: 92,308,016 (GRCm39) |
R717S |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,177,400 (GRCm39) |
E577D |
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,042,899 (GRCm39) |
K1497E |
probably damaging |
Het |
Pyroxd1 |
C |
A |
6: 142,299,266 (GRCm39) |
L141I |
probably damaging |
Het |
Rhobtb3 |
G |
T |
13: 76,020,537 (GRCm39) |
N588K |
probably benign |
Het |
Rnasel |
G |
A |
1: 153,629,452 (GRCm39) |
|
probably benign |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shank1 |
A |
T |
7: 44,003,911 (GRCm39) |
I1868F |
possibly damaging |
Het |
Slc28a3 |
A |
T |
13: 58,706,463 (GRCm39) |
S593T |
probably damaging |
Het |
Slc29a4 |
T |
C |
5: 142,699,853 (GRCm39) |
I168T |
possibly damaging |
Het |
Slc35f5 |
C |
T |
1: 125,518,775 (GRCm39) |
P502L |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,408,493 (GRCm39) |
I463T |
probably damaging |
Het |
Slk |
A |
G |
19: 47,608,451 (GRCm39) |
D468G |
probably benign |
Het |
Spata31d1d |
G |
T |
13: 59,874,322 (GRCm39) |
P1071Q |
probably damaging |
Het |
Tert |
G |
A |
13: 73,787,275 (GRCm39) |
V754I |
probably damaging |
Het |
Thada |
T |
C |
17: 84,759,155 (GRCm39) |
T235A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,564,472 (GRCm39) |
D28555G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,328 (GRCm39) |
|
probably null |
Het |
Ubqln4 |
T |
C |
3: 88,472,575 (GRCm39) |
L464P |
probably damaging |
Het |
Unc45b |
A |
T |
11: 82,813,643 (GRCm39) |
N350I |
possibly damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,589,900 (GRCm39) |
D672G |
probably benign |
Het |
Zfp947 |
T |
A |
17: 22,365,066 (GRCm39) |
I203L |
probably benign |
Het |
Zfp964 |
T |
A |
8: 70,116,766 (GRCm39) |
H454Q |
probably benign |
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 |
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 |
|
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'- GATAAAGGTGTGCAGGTGCTTC -3'
(R):5'- CAGGGTTACTAGGCAAGCTTCAG -3'
Sequencing Primer
(F):5'- TTAGAGGCAGGCAGGATCTCTC -3'
(R):5'- CTAGGCAAGCTTCAGAAGGAGTTTAG -3'
|
Posted On |
2016-11-09 |