Incidental Mutation 'R9431:Evi5'
| ID |
712953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107990150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 23
(V23A)
|
| 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 damaging
Transcript: ENSMUST00000112642
AA Change: V23A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: V23A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121761
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 |
probably benign
Transcript: ENSMUST00000128723
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000155955
AA Change: V7A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: V7A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
C |
5: 88,120,325 (GRCm39) |
I361L |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,592,594 (GRCm39) |
P446L |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,170,463 (GRCm39) |
A1081D |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,545,740 (GRCm39) |
K299* |
probably null |
Het |
| Cpq |
C |
T |
15: 33,250,078 (GRCm39) |
T145I |
probably benign |
Het |
| Creb1 |
C |
A |
1: 64,615,413 (GRCm39) |
A215E |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,173,814 (GRCm39) |
A118E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,450,812 (GRCm39) |
F3873I |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,142,838 (GRCm39) |
D4337G |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,387,489 (GRCm39) |
T631I |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Focad |
A |
G |
4: 88,321,583 (GRCm39) |
M1559V |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,900,873 (GRCm39) |
I3031L |
possibly damaging |
Het |
| Gnas |
T |
C |
2: 174,139,826 (GRCm39) |
S58P |
unknown |
Het |
| Hdac9 |
G |
A |
12: 34,440,327 (GRCm39) |
Q351* |
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,167 (GRCm39) |
N92I |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,387,866 (GRCm39) |
T513N |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,101,123 (GRCm39) |
T599A |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,392,253 (GRCm39) |
L992M |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,723,889 (GRCm39) |
Y245C |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,164 (GRCm39) |
H153R |
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,667,771 (GRCm39) |
Y716* |
probably null |
Het |
| Mroh2b |
A |
T |
15: 4,963,952 (GRCm39) |
D848V |
probably damaging |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,682 (GRCm39) |
I216S |
possibly damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,336 (GRCm39) |
H244L |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,459 (GRCm39) |
I29V |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,090 (GRCm39) |
V252A |
unknown |
Het |
| Or6ae1 |
T |
A |
7: 139,741,942 (GRCm39) |
Q307L |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,898,815 (GRCm39) |
E170G |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,780,074 (GRCm39) |
V112A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,229,545 (GRCm39) |
S125P |
probably benign |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slc12a5 |
T |
C |
2: 164,832,178 (GRCm39) |
V699A |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,278,742 (GRCm39) |
V49A |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,598,596 (GRCm39) |
T218A |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,505,278 (GRCm39) |
D422G |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,324,363 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Slc39a8 |
T |
C |
3: 135,563,923 (GRCm39) |
V256A |
probably benign |
Het |
| Slc45a2 |
G |
A |
15: 11,026,005 (GRCm39) |
E452K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,546,035 (GRCm39) |
C60Y |
probably damaging |
Het |
| St8sia3 |
T |
A |
18: 64,398,640 (GRCm39) |
L33Q |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Trim37 |
T |
A |
11: 87,077,257 (GRCm39) |
V529E |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,178,225 (GRCm39) |
T431S |
probably benign |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,544,679 (GRCm39) |
V32808M |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,856 (GRCm39) |
Y758C |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,046 (GRCm39) |
P1015S |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,236,035 (GRCm39) |
R413G |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,350,781 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
A |
G |
17: 56,246,536 (GRCm39) |
S217P |
possibly 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 |
|
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 |
|
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'- TGGACTCAACTTTGATGGGG -3'
(R):5'- TAGTAGAGATAAACAGCTCCCAGC -3'
Sequencing Primer
(F):5'- CTCAACTTTGATGGGGAAGATG -3'
(R):5'- ATTTGCATGGCATCACACAGCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation