Incidental Mutation 'R0172:Evi5'
ID |
24267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evi5
|
Ensembl Gene |
ENSMUSG00000011831 |
Gene Name |
ecotropic viral integration site 5 |
Synonyms |
NB4S |
MMRRC Submission |
038444-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107938328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 625
(N625S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112642]
[ENSMUST00000128723]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112642
AA Change: N609S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108261 Gene: ENSMUSG00000011831 AA Change: N609S
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: ENSMUST00000128723
AA Change: N625S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114845 Gene: ENSMUSG00000011831 AA Change: N625S
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: ENSMUST00000136677
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155897
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
Validation Efficiency |
82% (40/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
Dmwd |
C |
T |
7: 18,814,267 (GRCm39) |
R306C |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
Hip1r |
T |
A |
5: 124,135,003 (GRCm39) |
Y380N |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
Map1s |
T |
A |
8: 71,367,612 (GRCm39) |
M839K |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
Sclt1 |
A |
T |
3: 41,672,222 (GRCm39) |
I123N |
possibly damaging |
Het |
Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
Ufl1 |
T |
C |
4: 25,280,685 (GRCm39) |
K54R |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
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 |
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 |
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 |
|
Posted On |
2013-04-16 |