Incidental Mutation 'R5895:Evi5'
| ID |
457442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107968302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 215
(M215K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112642]
[ENSMUST00000124034]
[ENSMUST00000128723]
[ENSMUST00000138111]
[ENSMUST00000155955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112642
AA Change: M231K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
80 |
N/A |
INTRINSIC |
|
Blast:TBC
|
81 |
157 |
2e-16 |
BLAST |
|
TBC
|
160 |
371 |
7.92e-91 |
SMART |
|
internal_repeat_1
|
450 |
477 |
8.83e-6 |
PROSPERO |
|
internal_repeat_1
|
494 |
521 |
8.83e-6 |
PROSPERO |
|
coiled coil region
|
555 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124034
AA Change: M187K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
3e-17 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127579
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128723
AA Change: M187K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
2e-16 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
internal_repeat_1
|
466 |
493 |
2.66e-6 |
PROSPERO |
|
internal_repeat_1
|
510 |
537 |
2.66e-6 |
PROSPERO |
|
coiled coil region
|
571 |
660 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132482
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138111
AA Change: M187K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
3e-17 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155955
AA Change: M215K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: M215K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
18 |
133 |
3e-20 |
BLAST |
|
Pfam:RabGAP-TBC
|
150 |
222 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141673
|
| Meta Mutation Damage Score |
0.7697 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.7%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,752,216 (GRCm39) |
G426S |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,328,573 (GRCm39) |
|
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,144,229 (GRCm39) |
F988Y |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,098 (GRCm39) |
T249A |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,464,389 (GRCm39) |
V1516E |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,123,389 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,683,738 (GRCm39) |
G1506V |
unknown |
Het |
| Csgalnact2 |
A |
T |
6: 118,106,215 (GRCm39) |
C34* |
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,549,832 (GRCm39) |
K195E |
probably benign |
Het |
| Dhps |
T |
G |
8: 85,800,880 (GRCm39) |
S240A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,234,599 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,514,676 (GRCm39) |
T1414A |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,805,812 (GRCm39) |
D928G |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,285,658 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,601 (GRCm39) |
I830F |
probably damaging |
Het |
| Elmod1 |
C |
T |
9: 53,843,091 (GRCm39) |
R29Q |
probably damaging |
Het |
| Ephx4 |
T |
A |
5: 107,577,518 (GRCm39) |
|
probably null |
Het |
| Fbxl4 |
T |
C |
4: 22,390,678 (GRCm39) |
L287P |
probably damaging |
Het |
| Gbp9 |
G |
A |
5: 105,230,724 (GRCm39) |
S400L |
probably damaging |
Het |
| Gm6291 |
T |
C |
18: 6,371,365 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,688,596 (GRCm39) |
D301E |
probably benign |
Het |
| Gna14 |
C |
T |
19: 16,580,692 (GRCm39) |
R177C |
possibly damaging |
Het |
| Golph3 |
C |
T |
15: 12,339,756 (GRCm39) |
R90C |
probably damaging |
Het |
| Gpr142 |
T |
A |
11: 114,689,785 (GRCm39) |
C12* |
probably null |
Het |
| Hat1 |
T |
A |
2: 71,239,357 (GRCm39) |
N43K |
possibly damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,694 (GRCm39) |
E978V |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,467,044 (GRCm39) |
|
probably null |
Het |
| Kalrn |
C |
T |
16: 33,795,805 (GRCm39) |
|
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,132,418 (GRCm39) |
T860A |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,695,400 (GRCm39) |
L1146F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,531,581 (GRCm39) |
T620A |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,358,834 (GRCm39) |
E378G |
probably benign |
Het |
| Mybpc3 |
T |
A |
2: 90,955,010 (GRCm39) |
V481D |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,256,133 (GRCm39) |
L1924Q |
probably damaging |
Het |
| Mylip |
G |
T |
13: 45,562,178 (GRCm39) |
E327* |
probably null |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,452,500 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ncam1 |
T |
A |
9: 49,418,343 (GRCm39) |
T986S |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,314 (GRCm39) |
I112V |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,800 (GRCm39) |
I265T |
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,121,261 (GRCm39) |
G480S |
probably damaging |
Het |
| Por |
A |
G |
5: 135,744,838 (GRCm39) |
I34V |
probably benign |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,764 (GRCm39) |
R33H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,570,693 (GRCm39) |
Y2325* |
probably null |
Het |
| Prx |
A |
G |
7: 27,214,709 (GRCm39) |
E73G |
probably damaging |
Het |
| Rbms2 |
C |
A |
10: 127,981,556 (GRCm39) |
A126S |
possibly damaging |
Het |
| Rhoq |
C |
T |
17: 87,302,117 (GRCm39) |
A111V |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,403,240 (GRCm39) |
|
probably benign |
Het |
| Serbp1 |
A |
G |
6: 67,249,870 (GRCm39) |
*75W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,073,978 (GRCm39) |
V1351F |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,401,979 (GRCm39) |
V897A |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,407,038 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,780,487 (GRCm39) |
Y1088F |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,448,929 (GRCm39) |
Q83K |
probably benign |
Het |
| Wdr76 |
A |
T |
2: 121,359,323 (GRCm39) |
S221C |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,303,348 (GRCm39) |
F1545L |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,709,959 (GRCm39) |
I561V |
probably damaging |
Het |
|
| Other mutations in Evi5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Evi5
|
APN |
5 |
107,963,477 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01458:Evi5
|
APN |
5 |
107,963,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Evi5
|
APN |
5 |
107,912,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Evi5
|
APN |
5 |
107,964,790 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02170:Evi5
|
APN |
5 |
107,969,750 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02539:Evi5
|
APN |
5 |
107,963,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02655:Evi5
|
APN |
5 |
107,961,446 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03040:Evi5
|
APN |
5 |
107,969,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Evi5
|
APN |
5 |
107,896,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0125:Evi5
|
UTSW |
5 |
107,943,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0172:Evi5
|
UTSW |
5 |
107,938,328 (GRCm39) |
missense |
probably benign |
|
|
R0334:Evi5
|
UTSW |
5 |
107,968,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0335:Evi5
|
UTSW |
5 |
107,960,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0526:Evi5
|
UTSW |
5 |
107,969,614 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0579:Evi5
|
UTSW |
5 |
107,969,575 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0585:Evi5
|
UTSW |
5 |
107,961,402 (GRCm39) |
unclassified |
probably benign |
|
|
R1123:Evi5
|
UTSW |
5 |
107,968,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1618:Evi5
|
UTSW |
5 |
107,946,984 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Evi5
|
UTSW |
5 |
107,966,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Evi5
|
UTSW |
5 |
107,943,707 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1969:Evi5
|
UTSW |
5 |
107,896,230 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1977:Evi5
|
UTSW |
5 |
107,947,005 (GRCm39) |
nonsense |
probably null |
|
|
R2010:Evi5
|
UTSW |
5 |
107,961,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3736:Evi5
|
UTSW |
5 |
107,966,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5047:Evi5
|
UTSW |
5 |
107,969,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Evi5
|
UTSW |
5 |
107,943,618 (GRCm39) |
missense |
probably benign |
|
|
R5350:Evi5
|
UTSW |
5 |
107,963,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5552:Evi5
|
UTSW |
5 |
107,966,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Evi5
|
UTSW |
5 |
107,968,317 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6334:Evi5
|
UTSW |
5 |
107,968,387 (GRCm39) |
nonsense |
probably null |
|
|
R6364:Evi5
|
UTSW |
5 |
107,989,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Evi5
|
UTSW |
5 |
107,990,027 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6861:Evi5
|
UTSW |
5 |
107,896,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Evi5
|
UTSW |
5 |
107,936,147 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7386:Evi5
|
UTSW |
5 |
107,957,689 (GRCm39) |
splice site |
probably null |
|
|
R7844:Evi5
|
UTSW |
5 |
108,022,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Evi5
|
UTSW |
5 |
107,966,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8298:Evi5
|
UTSW |
5 |
107,964,731 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9081:Evi5
|
UTSW |
5 |
107,963,571 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9431:Evi5
|
UTSW |
5 |
107,990,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Evi5
|
UTSW |
5 |
107,957,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Evi5
|
UTSW |
5 |
107,943,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9634:Evi5
|
UTSW |
5 |
107,964,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9765:Evi5
|
UTSW |
5 |
107,947,120 (GRCm39) |
missense |
probably benign |
|
|
X0018:Evi5
|
UTSW |
5 |
107,966,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0027:Evi5
|
UTSW |
5 |
107,912,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Evi5
|
UTSW |
5 |
107,896,245 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAAACTACATGTTGATGAAGCG -3'
(R):5'- GGAGCTTGTTCGTAAAGGGATAC -3'
Sequencing Primer
(F):5'- TGTTGATGAAGCGTCAGAATTAAAGC -3'
(R):5'- CCATCACTTCAGAGCAATAGTGTGG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation