Incidental Mutation 'R0526:Evi5'
| ID |
48914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| MMRRC Submission |
038719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0526 (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 107969614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 143
(N143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108261
(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: N143S
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: N143S
| 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: N99S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: N99S
| 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 |
noncoding transcript
Transcript: ENSMUST00000127579
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128723
AA Change: N99S
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: N99S
| 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: N99S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: N99S
| 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 |
probably benign
Transcript: ENSMUST00000155955
AA Change: N127S
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: N127S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
18 |
133 |
3e-20 |
BLAST |
|
Pfam:RabGAP-TBC
|
150 |
222 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141673
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,535 (GRCm39) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,060,609 (GRCm39) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,751,869 (GRCm39) |
L89P |
probably damaging |
Het |
| Adamts1 |
A |
C |
16: 85,599,260 (GRCm39) |
S113R |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,373,948 (GRCm39) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,266 (GRCm39) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 72,176,748 (GRCm39) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,536,803 (GRCm39) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,558 (GRCm39) |
C131R |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,269,283 (GRCm39) |
L168P |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,155,641 (GRCm39) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,727,182 (GRCm39) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,050,504 (GRCm39) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,735,410 (GRCm39) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,282,078 (GRCm39) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,729 (GRCm39) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,556,812 (GRCm39) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,562,494 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,270,043 (GRCm39) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,963,742 (GRCm39) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,075,688 (GRCm39) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,262 (GRCm39) |
M671T |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,051 (GRCm39) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 170,856,760 (GRCm39) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,000 (GRCm39) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,349,215 (GRCm39) |
M664K |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,766,128 (GRCm39) |
S219T |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,487,690 (GRCm39) |
D591G |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,826,862 (GRCm39) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,996 (GRCm39) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,678,295 (GRCm39) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,893,934 (GRCm39) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,680,310 (GRCm39) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,296,379 (GRCm39) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,866,346 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,343,398 (GRCm39) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,229,680 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,190,823 (GRCm39) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,075,597 (GRCm39) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,087,074 (GRCm39) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,880 (GRCm39) |
I43F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,837 (GRCm39) |
V164E |
possibly damaging |
Het |
| Or5t5 |
A |
T |
2: 86,616,691 (GRCm39) |
T206S |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,999 (GRCm39) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,136,033 (GRCm39) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,874 (GRCm39) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,583,127 (GRCm39) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,951,804 (GRCm39) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,454 (GRCm39) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,338,392 (GRCm39) |
I336T |
probably damaging |
Het |
| Strip1 |
C |
T |
3: 107,527,355 (GRCm39) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,576,799 (GRCm39) |
E185G |
possibly damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,299,439 (GRCm39) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,879,129 (GRCm39) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,233,161 (GRCm39) |
V134I |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,320,457 (GRCm39) |
V738E |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,770,240 (GRCm39) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,711 (GRCm39) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,953 (GRCm39) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,812,584 (GRCm39) |
C285S |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,586,472 (GRCm39) |
I288M |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,371,263 (GRCm39) |
N206S |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GGCAACCTGTTCCTTACACAGCAC -3'
(R):5'- CAAGACAGGGTTTCCTGGCTGTTC -3'
Sequencing Primer
(F):5'- TTACACAGCACACAGGTTACTAGG -3'
(R):5'- aggacagccagggctac -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation