Incidental Mutation 'R8126:Evl'
| ID |
631774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evl
|
| Ensembl Gene |
ENSMUSG00000021262 |
| Gene Name |
Ena-vasodilator stimulated phosphoprotein |
| Synonyms |
b2b2600Clo |
| MMRRC Submission |
067555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8126 (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: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
| Validation Efficiency |
95% (42/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aplp1 |
T |
A |
7: 30,141,164 (GRCm39) |
D299V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,968,987 (GRCm39) |
I841M |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,192,790 (GRCm39) |
E1348G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,359,881 (GRCm39) |
T1948A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,558,393 (GRCm39) |
Y431H |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,511,831 (GRCm39) |
D446E |
|
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,007 (GRCm39) |
T1632A |
unknown |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cspg4b |
T |
A |
13: 113,504,697 (GRCm39) |
I1942N |
|
Het |
| Cstl1 |
A |
G |
2: 148,596,591 (GRCm39) |
E98G |
probably benign |
Het |
| Ddx49 |
A |
T |
8: 70,748,246 (GRCm39) |
I303N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Gm14295 |
A |
G |
2: 176,502,658 (GRCm39) |
D716G |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,475,010 (GRCm39) |
H556Q |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,530,246 (GRCm39) |
I538V |
probably damaging |
Het |
| Ighv1-49 |
C |
T |
12: 115,019,230 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,942,063 (GRCm39) |
N725S |
probably damaging |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,984 (GRCm39) |
S124P |
probably benign |
Het |
| Ncoa1 |
A |
T |
12: 4,340,951 (GRCm39) |
L827Q |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,183,268 (GRCm39) |
N59D |
unknown |
Het |
| Nfkbid |
T |
A |
7: 30,123,799 (GRCm39) |
S120T |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,575,514 (GRCm39) |
Y341H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,463,634 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,114 (GRCm39) |
N42K |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,506 (GRCm39) |
D721G |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,608,952 (GRCm39) |
D348E |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,343,635 (GRCm39) |
C312S |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,372 (GRCm39) |
I171M |
probably damaging |
Het |
| Snrpa |
G |
T |
7: 26,892,373 (GRCm39) |
F62L |
possibly damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,369 (GRCm39) |
H591R |
probably benign |
Het |
| Tnfsf8 |
T |
G |
4: 63,752,423 (GRCm39) |
D214A |
possibly damaging |
Het |
| Trdmt1 |
C |
T |
2: 13,524,816 (GRCm39) |
R213H |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,151,430 (GRCm39) |
L877F |
probably damaging |
Het |
| Vmn1r22 |
C |
A |
6: 57,877,669 (GRCm39) |
V103F |
possibly damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,880,712 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,042,814 (GRCm39) |
Y74F |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,067,951 (GRCm39) |
F1429S |
possibly damaging |
Het |
| Zdhhc20 |
C |
A |
14: 58,084,402 (GRCm39) |
V238F |
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 |
|
|
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 |
|
|
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'- TTAGCTGGACCAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGTGCTCTTGACTGAGAGACATAGAC -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation