Incidental Mutation 'IGL01458:Evi5'
| ID |
84863 |
| 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 # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107963513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 354
(A354V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119196
(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: A398V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: A398V
| 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: A354V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: A354V
| 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 damaging
Transcript: ENSMUST00000128723
AA Change: A354V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: A354V
| 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: A354V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: A354V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation