Incidental Mutation 'R8298:Evi5'
ID |
639070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evi5
|
Ensembl Gene |
ENSMUSG00000011831 |
Gene Name |
ecotropic viral integration site 5 |
Synonyms |
NB4S |
MMRRC Submission |
067786-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8298 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107964731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 317
(S317L)
|
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 |
possibly damaging
Transcript: ENSMUST00000112642
AA Change: S317L
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108261 Gene: ENSMUSG00000011831 AA Change: S317L
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: S273L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121761 Gene: ENSMUSG00000011831 AA Change: S273L
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 damaging
Transcript: ENSMUST00000128723
AA Change: S273L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114845 Gene: ENSMUSG00000011831 AA Change: S273L
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 damaging
Transcript: ENSMUST00000138111
AA Change: S273L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119196 Gene: ENSMUSG00000011831 AA Change: S273L
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
|
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,695 (GRCm39) |
L343P |
probably benign |
Het |
Aak1 |
T |
A |
6: 86,902,061 (GRCm39) |
F77I |
possibly damaging |
Het |
Abca3 |
T |
C |
17: 24,604,375 (GRCm39) |
L582P |
probably damaging |
Het |
Acat1 |
A |
T |
9: 53,505,724 (GRCm39) |
S136R |
probably damaging |
Het |
Adamts2 |
T |
C |
11: 50,667,958 (GRCm39) |
F507L |
possibly damaging |
Het |
Adcy3 |
G |
A |
12: 4,256,482 (GRCm39) |
A763T |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,534,033 (GRCm39) |
C5849* |
probably null |
Het |
Adrb2 |
A |
T |
18: 62,311,753 (GRCm39) |
N357K |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,265,054 (GRCm39) |
E404G |
|
Het |
Akap13 |
T |
C |
7: 75,397,552 (GRCm39) |
L2576P |
probably damaging |
Het |
Armcx5 |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
X: 134,646,453 (GRCm39) |
|
probably benign |
Het |
Arv1 |
A |
G |
8: 125,455,111 (GRCm39) |
Y108C |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,640,429 (GRCm39) |
H494Q |
probably benign |
Het |
Ccdc88b |
A |
G |
19: 6,827,649 (GRCm39) |
L951P |
probably damaging |
Het |
D830039M14Rik |
A |
T |
10: 61,311,362 (GRCm39) |
M160K |
noncoding transcript |
Het |
Dbf4 |
A |
G |
5: 8,462,115 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,814,157 (GRCm39) |
D1458G |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,514,654 (GRCm39) |
K1422R |
probably benign |
Het |
Dyrk3 |
C |
T |
1: 131,057,112 (GRCm39) |
D354N |
probably damaging |
Het |
Epha3 |
T |
A |
16: 63,386,961 (GRCm39) |
I892F |
probably benign |
Het |
Evl |
C |
T |
12: 108,619,232 (GRCm39) |
P76S |
probably benign |
Het |
Fyb2 |
A |
C |
4: 104,806,028 (GRCm39) |
E369D |
probably damaging |
Het |
Gm10000 |
T |
C |
12: 104,442,436 (GRCm39) |
|
probably benign |
Het |
Gm1979 |
T |
C |
5: 26,206,148 (GRCm39) |
N190S |
probably damaging |
Het |
Gm3633 |
T |
C |
14: 42,462,675 (GRCm39) |
E72G |
|
Het |
Gm5414 |
T |
C |
15: 101,532,605 (GRCm39) |
Y506C |
unknown |
Het |
Gm572 |
T |
A |
4: 148,742,550 (GRCm39) |
H96Q |
possibly damaging |
Het |
Gml |
T |
C |
15: 74,685,541 (GRCm39) |
E148G |
probably damaging |
Het |
Got1l1 |
T |
C |
8: 27,688,586 (GRCm39) |
D255G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,327,015 (GRCm39) |
N4785D |
probably damaging |
Het |
Kcnk12 |
A |
T |
17: 88,104,713 (GRCm39) |
F57Y |
probably damaging |
Het |
Klhdc9 |
C |
A |
1: 171,186,429 (GRCm39) |
G336C |
probably damaging |
Het |
Kprp |
T |
C |
3: 92,732,607 (GRCm39) |
T148A |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
Lelp1 |
A |
T |
3: 92,042,927 (GRCm39) |
S41T |
unknown |
Het |
Lnx2 |
A |
T |
5: 146,961,327 (GRCm39) |
M535K |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,792,279 (GRCm39) |
F294L |
probably null |
Het |
Myo7a |
T |
C |
7: 97,747,541 (GRCm39) |
Y97C |
probably damaging |
Het |
Nav2 |
T |
C |
7: 49,204,009 (GRCm39) |
|
probably null |
Het |
Ndufaf3 |
T |
C |
9: 108,444,120 (GRCm39) |
T3A |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,011,597 (GRCm39) |
I344T |
probably damaging |
Het |
Or1j1 |
T |
C |
2: 36,703,038 (GRCm39) |
E22G |
probably benign |
Het |
Or5ap2 |
T |
C |
2: 85,680,533 (GRCm39) |
S246P |
probably damaging |
Het |
Or5w14 |
A |
T |
2: 87,541,376 (GRCm39) |
S291R |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,867,885 (GRCm39) |
D384G |
probably damaging |
Het |
Plekhg3 |
C |
T |
12: 76,623,852 (GRCm39) |
H1032Y |
probably damaging |
Het |
Ppfia3 |
A |
G |
7: 45,009,618 (GRCm39) |
S125P |
probably damaging |
Het |
Prl7a2 |
T |
C |
13: 27,844,994 (GRCm39) |
M131V |
probably benign |
Het |
Prmt3 |
A |
G |
7: 49,507,186 (GRCm39) |
T517A |
probably benign |
Het |
Prpf4b |
A |
G |
13: 35,072,166 (GRCm39) |
H491R |
unknown |
Het |
Rhot1 |
T |
A |
11: 80,137,502 (GRCm39) |
C335S |
probably benign |
Het |
Robo1 |
C |
T |
16: 72,769,020 (GRCm39) |
|
probably benign |
Het |
Samd3 |
A |
T |
10: 26,121,468 (GRCm39) |
D195V |
probably damaging |
Het |
Sh3gl2 |
T |
A |
4: 85,297,647 (GRCm39) |
D208E |
possibly damaging |
Het |
Spta1 |
A |
T |
1: 174,074,953 (GRCm39) |
D2393V |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,605,840 (GRCm39) |
L785P |
probably damaging |
Het |
Tmem25 |
C |
T |
9: 44,710,116 (GRCm39) |
|
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,038,753 (GRCm39) |
Y780H |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,557,511 (GRCm39) |
W29861L |
probably damaging |
Het |
Usp1 |
T |
A |
4: 98,819,136 (GRCm39) |
D199E |
probably damaging |
Het |
Vmn2r40 |
A |
G |
7: 8,911,148 (GRCm39) |
I715T |
|
Het |
Zfp169 |
G |
A |
13: 48,651,853 (GRCm39) |
Q68* |
probably null |
Het |
Zfp418 |
T |
A |
7: 7,185,814 (GRCm39) |
Y592* |
probably null |
Het |
Zfp712 |
A |
G |
13: 67,188,976 (GRCm39) |
V517A |
probably benign |
Het |
Zfp934 |
A |
T |
13: 62,666,295 (GRCm39) |
H146Q |
|
Het |
Zgrf1 |
T |
C |
3: 127,408,878 (GRCm39) |
S1662P |
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 |
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 |
|
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'- GTCCTGCTCCAATTAAACCATG -3'
(R):5'- CAGCTGAAGTTCGGTTTCCTG -3'
Sequencing Primer
(F):5'- AAACCATGACTCCTTTACTCTGCTG -3'
(R):5'- GCCCTTCCTAGATTGTAGCTGTTAAC -3'
|
Posted On |
2020-07-28 |