Incidental Mutation 'R8019:Evl'
| ID |
617282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evl
|
| Ensembl Gene |
ENSMUSG00000021262 |
| Gene Name |
Ena-vasodilator stimulated phosphoprotein |
| Synonyms |
b2b2600Clo |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.8%
- 20x: 99.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,846,412 (GRCm39) |
A41V |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
| Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
| Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
| Cdh24 |
G |
T |
14: 54,876,089 (GRCm39) |
N184K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
| Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
| Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
| Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
| Kif17 |
G |
A |
4: 138,023,536 (GRCm39) |
R927Q |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
| Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
| Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,762,107 (GRCm39) |
W249R |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
| Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
| Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
| Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
| Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
| Srf |
G |
T |
17: 46,866,748 (GRCm39) |
P3T |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,651,925 (GRCm39) |
V406A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
| Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
| Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,248 (GRCm39) |
H261Q |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
probably null |
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 |
|
|
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'- CCAGCCTAGTGATGTAAGGATTG -3'
(R):5'- CTTAGCTGGACCAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGTGCTCTTGACTGAGAGACATAGAC -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation