Incidental Mutation 'R7973:Evl'
| ID |
650732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evl
|
| Ensembl Gene |
ENSMUSG00000021262 |
| Gene Name |
Ena-vasodilator stimulated phosphoprotein |
| Synonyms |
b2b2600Clo |
| MMRRC Submission |
046016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7973 (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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
A |
G |
5: 115,084,112 (GRCm39) |
D76G |
probably benign |
Het |
| Abcg1 |
T |
C |
17: 31,323,132 (GRCm39) |
V237A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,506 (GRCm39) |
H122Q |
|
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,763,518 (GRCm39) |
R925W |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,480,381 (GRCm39) |
G181D |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,960,164 (GRCm39) |
S2299T |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,538,062 (GRCm39) |
Q432* |
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,483 (GRCm39) |
S10T |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,539 (GRCm39) |
I221V |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,057 (GRCm39) |
Y688C |
probably damaging |
Het |
| Caml |
C |
T |
13: 55,779,784 (GRCm39) |
L286F |
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,806,331 (GRCm39) |
|
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,477 (GRCm39) |
V116E |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,929,011 (GRCm39) |
I305N |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,680,130 (GRCm39) |
G33S |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,181,148 (GRCm39) |
I178L |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,909,377 (GRCm39) |
L1330Q |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,061,984 (GRCm39) |
|
probably benign |
Het |
| Galk1 |
A |
G |
11: 115,903,435 (GRCm39) |
F24L |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,785 (GRCm39) |
M1K |
probably null |
Het |
| Ighe |
T |
C |
12: 113,236,677 (GRCm39) |
T64A |
|
Het |
| Iqch |
A |
G |
9: 63,432,228 (GRCm39) |
I389T |
possibly damaging |
Het |
| Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,230,922 (GRCm39) |
S650P |
probably benign |
Het |
| Mapkapk5 |
T |
G |
5: 121,663,776 (GRCm39) |
N426T |
possibly damaging |
Het |
| Mroh5 |
G |
T |
15: 73,664,614 (GRCm39) |
Y90* |
probably null |
Het |
| Ncan |
T |
G |
8: 70,550,225 (GRCm39) |
I1184L |
probably benign |
Het |
| Nectin3 |
T |
C |
16: 46,216,484 (GRCm39) |
T439A |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,897,476 (GRCm39) |
A160E |
probably damaging |
Het |
| Nosip |
T |
C |
7: 44,726,784 (GRCm39) |
S295P |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,222,274 (GRCm39) |
F1979L |
probably benign |
Het |
| Nxpe2 |
A |
T |
9: 48,231,168 (GRCm39) |
D400E |
probably damaging |
Het |
| Or4a73 |
T |
A |
2: 89,421,331 (GRCm39) |
I43F |
probably damaging |
Het |
| Pfkfb4 |
G |
A |
9: 108,854,179 (GRCm39) |
R351Q |
probably damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,462 (GRCm39) |
I324T |
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,583,887 (GRCm39) |
T235N |
possibly damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,230,481 (GRCm39) |
N981I |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,036,651 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sgk1 |
G |
T |
10: 21,870,054 (GRCm39) |
S31I |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,857,419 (GRCm39) |
Y390D |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,112,779 (GRCm39) |
Y271* |
probably null |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,590 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
A |
T |
10: 62,285,202 (GRCm39) |
L88Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,668,570 (GRCm39) |
|
probably null |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,913,634 (GRCm39) |
I899T |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,413,762 (GRCm39) |
R96M |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,961 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,872 (GRCm39) |
E249G |
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,531 (GRCm39) |
G337R |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,441,882 (GRCm39) |
H231L |
probably benign |
Het |
| Zfp715 |
C |
T |
7: 42,949,321 (GRCm39) |
G213D |
possibly damaging |
Het |
| Zfp760 |
T |
G |
17: 21,941,084 (GRCm39) |
H86Q |
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 |
|
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 |
|
|
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'- TCCAGCCTAGTGATGTAAGGATTG -3'
(R):5'- TAGCTGGACCAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGTGCTCTTGACTGAGAGACATAGAC -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation