Incidental Mutation 'IGL02170:Evi5'
| ID |
282883 |
| 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 # |
IGL02170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107969750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 54
(T54S)
|
| 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: T98S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: T98S
| 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: T54S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: T54S
| 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: ENSMUST00000127579
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128723
AA Change: T54S
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: T54S
| 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: T54S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: T54S
| 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
AA Change: T82S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: T82S
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,196 (GRCm39) |
P176L |
probably damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,467 (GRCm39) |
M265V |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,524,173 (GRCm39) |
E1153G |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,184,845 (GRCm39) |
T452A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,597,432 (GRCm39) |
T56A |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,103 (GRCm39) |
V674A |
possibly damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,919,994 (GRCm39) |
Y172* |
probably null |
Het |
| Chrdl2 |
A |
T |
7: 99,683,821 (GRCm39) |
T416S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,621 (GRCm39) |
L1095P |
unknown |
Het |
| Dhx16 |
T |
C |
17: 36,200,361 (GRCm39) |
C901R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,656,371 (GRCm39) |
T732A |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,495,069 (GRCm39) |
I1376L |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,217,949 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,816,278 (GRCm39) |
H192L |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,592,795 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
T |
17: 75,847,187 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
G |
A |
2: 4,570,988 (GRCm39) |
R306K |
probably damaging |
Het |
| Fxyd7 |
C |
A |
7: 30,744,432 (GRCm39) |
V28L |
possibly damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,294,073 (GRCm39) |
I449K |
probably damaging |
Het |
| Gkn3 |
G |
T |
6: 87,360,493 (GRCm39) |
D167E |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,638,144 (GRCm39) |
Y406F |
probably damaging |
Het |
| Gm8603 |
T |
A |
17: 13,737,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
T |
C |
13: 14,438,743 (GRCm39) |
N880S |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,003,548 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Hscb |
T |
A |
5: 110,987,492 (GRCm39) |
S35C |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,793,113 (GRCm39) |
K357N |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,427,588 (GRCm39) |
I302F |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,215 (GRCm39) |
C351S |
unknown |
Het |
| Mvd |
A |
G |
8: 123,164,747 (GRCm39) |
V142A |
probably benign |
Het |
| Myo1f |
A |
T |
17: 33,797,246 (GRCm39) |
I143L |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,565,849 (GRCm39) |
E599D |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,538,104 (GRCm39) |
C495* |
probably null |
Het |
| Nfx1 |
G |
A |
4: 41,018,019 (GRCm39) |
G920E |
probably damaging |
Het |
| Nlrp4g |
T |
G |
9: 124,348,980 (GRCm38) |
|
noncoding transcript |
Het |
| Nup85 |
T |
A |
11: 115,468,757 (GRCm39) |
V200E |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,906 (GRCm39) |
I290F |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,120 (GRCm39) |
M302V |
probably benign |
Het |
| Pask |
T |
C |
1: 93,238,606 (GRCm39) |
Q1293R |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,636,646 (GRCm39) |
S232T |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,612 (GRCm39) |
R1285W |
unknown |
Het |
| Rimoc1 |
C |
T |
15: 4,015,848 (GRCm39) |
V239I |
probably benign |
Het |
| Rxylt1 |
A |
T |
10: 121,930,548 (GRCm39) |
D126E |
probably damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,880,153 (GRCm39) |
F278I |
possibly damaging |
Het |
| Sos1 |
G |
T |
17: 80,705,719 (GRCm39) |
T1284N |
probably damaging |
Het |
| Sp2 |
T |
A |
11: 96,847,036 (GRCm39) |
Q475L |
probably damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,444,917 (GRCm39) |
T2134S |
possibly damaging |
Het |
| Tbx1 |
C |
A |
16: 18,401,552 (GRCm39) |
A300S |
probably benign |
Het |
| Uap1 |
A |
C |
1: 169,994,281 (GRCm39) |
V65G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,123 (GRCm39) |
T738I |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,758,297 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r116 |
T |
G |
17: 23,603,907 (GRCm39) |
I44S |
probably benign |
Het |
| Xkr8 |
A |
T |
4: 132,455,688 (GRCm39) |
Y228* |
probably null |
Het |
| Zbtb20 |
A |
G |
16: 43,430,025 (GRCm39) |
I106V |
possibly damaging |
Het |
| Zc3h7a |
C |
T |
16: 10,964,259 (GRCm39) |
S683N |
probably benign |
Het |
| Zfp146 |
A |
T |
7: 29,861,905 (GRCm39) |
C46S |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,662 (GRCm39) |
E152G |
possibly damaging |
Het |
| Zfp90 |
T |
C |
8: 107,146,156 (GRCm39) |
V57A |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,621,718 (GRCm39) |
N816K |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation