Incidental Mutation 'R5350:Evi5'
| ID |
423747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107963544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 344
(D344N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112642]
[ENSMUST00000124034]
[ENSMUST00000128723]
[ENSMUST00000138111]
[ENSMUST00000155955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112642
AA Change: D388N
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: D388N
| 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 benign
Transcript: ENSMUST00000124034
AA Change: D344N
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: D344N
| 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 |
probably benign
Transcript: ENSMUST00000128723
AA Change: D344N
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: D344N
| 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 benign
Transcript: ENSMUST00000138111
AA Change: D344N
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: D344N
| 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: ENSMUST00000141673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155955
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
18 |
133 |
3e-20 |
BLAST |
|
Pfam:RabGAP-TBC
|
150 |
222 |
1.6e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
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 |
|
|
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 |
|
R5895:Evi5
|
UTSW |
5 |
107,968,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTGTTGTACAGAAGCTAATACTACC -3'
(R):5'- CGAGTAGGATTAGCGCTTCTTC -3'
Sequencing Primer
(F):5'- GAAGTGCCTACATGCTTC -3'
(R):5'- CGCTTCTTCAGATGAATCAGGCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation