Incidental Mutation 'IGL02655:Evi5'
ID |
302300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02655
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107961446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 375
(K375R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112642]
[ENSMUST00000124034]
[ENSMUST00000128723]
[ENSMUST00000138111]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112642
AA Change: K419R
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108261 Gene: ENSMUSG00000011831 AA Change: K419R
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: K375R
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121761 Gene: ENSMUSG00000011831 AA Change: K375R
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: K375R
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114845 Gene: ENSMUSG00000011831 AA Change: K375R
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
|
SMART Domains |
Protein: ENSMUSP00000119196 Gene: ENSMUSG00000011831
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: ENSMUST00000155897
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
T |
2: 35,270,498 (GRCm39) |
S68T |
possibly damaging |
Het |
4930544G11Rik |
T |
G |
6: 65,930,074 (GRCm39) |
V103G |
probably damaging |
Het |
Adam7 |
A |
T |
14: 68,754,060 (GRCm39) |
D346E |
probably damaging |
Het |
Adamts1 |
A |
G |
16: 85,599,505 (GRCm39) |
S32P |
probably benign |
Het |
Adamtsl2 |
T |
C |
2: 26,972,542 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
C |
A |
4: 129,885,972 (GRCm39) |
Y37* |
probably null |
Het |
Apba3 |
A |
G |
10: 81,108,788 (GRCm39) |
R547G |
probably benign |
Het |
Ccnd2 |
C |
T |
6: 127,125,733 (GRCm39) |
G101D |
probably damaging |
Het |
Cpm |
A |
G |
10: 117,519,186 (GRCm39) |
T365A |
probably benign |
Het |
Cpt2 |
A |
G |
4: 107,764,624 (GRCm39) |
V380A |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,155,461 (GRCm39) |
|
probably benign |
Het |
Enpp1 |
A |
C |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
Ermp1 |
C |
A |
19: 29,623,610 (GRCm39) |
E127* |
probably null |
Het |
Gm11564 |
A |
T |
11: 99,705,982 (GRCm39) |
C149* |
probably null |
Het |
Golgb1 |
A |
T |
16: 36,738,442 (GRCm39) |
E2260D |
probably damaging |
Het |
Gpc2 |
T |
C |
5: 138,277,187 (GRCm39) |
D80G |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,248,960 (GRCm39) |
I151V |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,901,473 (GRCm39) |
I1058T |
possibly damaging |
Het |
Krtap4-8 |
A |
T |
11: 99,671,454 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
G |
9: 86,536,780 (GRCm39) |
|
probably benign |
Het |
Mki67 |
C |
T |
7: 135,315,748 (GRCm39) |
R38H |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,424,933 (GRCm39) |
F272L |
possibly damaging |
Het |
Pcyox1 |
A |
T |
6: 86,366,326 (GRCm39) |
V78E |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,817,511 (GRCm39) |
T208N |
probably benign |
Het |
Plagl2 |
T |
C |
2: 153,074,337 (GRCm39) |
E188G |
probably damaging |
Het |
Pramel15 |
A |
G |
4: 144,099,416 (GRCm39) |
F450L |
probably benign |
Het |
Relch |
G |
A |
1: 105,605,971 (GRCm39) |
V204M |
probably damaging |
Het |
Ric1 |
T |
A |
19: 29,572,851 (GRCm39) |
S764T |
probably damaging |
Het |
Sec24a |
G |
A |
11: 51,625,482 (GRCm39) |
T247M |
probably benign |
Het |
Slc25a17 |
C |
T |
15: 81,207,844 (GRCm39) |
R248Q |
probably benign |
Het |
Stk36 |
C |
T |
1: 74,673,694 (GRCm39) |
P1068S |
probably damaging |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Tfec |
C |
T |
6: 16,834,308 (GRCm39) |
A200T |
possibly damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,305,886 (GRCm39) |
I512T |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |