Incidental Mutation 'R6838:Evi5'
| ID |
537943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| MMRRC Submission |
044946-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6838 (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 T
at 107990027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 64
(T64K)
|
| 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: T64K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: T64K
| 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 |
unknown
Transcript: ENSMUST00000124034
AA Change: T20K
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: T20K
| 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 |
unknown
Transcript: ENSMUST00000128723
AA Change: T20K
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: T20K
| 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 |
unknown
Transcript: ENSMUST00000138111
AA Change: T20K
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: T20K
| 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: T48K
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: T48K
| 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: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Aqp9 |
T |
A |
9: 71,019,498 (GRCm39) |
M321L |
probably benign |
Het |
| Avil |
G |
A |
10: 126,849,431 (GRCm39) |
D576N |
probably benign |
Het |
| Bbs1 |
C |
T |
19: 4,953,880 (GRCm39) |
M94I |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,393,455 (GRCm39) |
V139A |
probably benign |
Het |
| Bscl2 |
A |
T |
19: 8,818,745 (GRCm39) |
M57L |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,975,364 (GRCm39) |
I794T |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,012,175 (GRCm39) |
T539I |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,045,935 (GRCm39) |
K990R |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,076,130 (GRCm39) |
I311V |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,839,239 (GRCm39) |
N41D |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,471 (GRCm39) |
F275L |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,823,395 (GRCm39) |
T1671I |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,780,062 (GRCm39) |
Q798L |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,971,180 (GRCm39) |
D46G |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,006,056 (GRCm39) |
T806S |
unknown |
Het |
| Ddx46 |
G |
T |
13: 55,787,748 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,230,948 (GRCm39) |
L1402P |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,929,525 (GRCm39) |
E1402G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,784,008 (GRCm39) |
Y1989H |
possibly damaging |
Het |
| Ereg |
A |
G |
5: 91,236,323 (GRCm39) |
D50G |
probably benign |
Het |
| Frem3 |
A |
C |
8: 81,338,660 (GRCm39) |
T318P |
probably damaging |
Het |
| Gpx1 |
A |
G |
9: 108,217,139 (GRCm39) |
D81G |
possibly damaging |
Het |
| Gramd1a |
T |
C |
7: 30,833,929 (GRCm39) |
I499V |
probably benign |
Het |
| H4c12 |
A |
T |
13: 21,934,375 (GRCm39) |
F101I |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,758,526 (GRCm39) |
D804E |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,107,437 (GRCm39) |
E846G |
probably damaging |
Het |
| Iars2 |
G |
A |
1: 185,061,342 (GRCm39) |
A48V |
probably damaging |
Het |
| Invs |
C |
T |
4: 48,283,278 (GRCm39) |
T10M |
possibly damaging |
Het |
| Ism2 |
A |
T |
12: 87,326,975 (GRCm39) |
D321E |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,448,152 (GRCm39) |
S231P |
possibly damaging |
Het |
| Kif17 |
A |
T |
4: 138,005,710 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
G |
18: 47,023,947 (GRCm39) |
I765V |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,015,882 (GRCm39) |
C108S |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,996,535 (GRCm39) |
|
probably null |
Het |
| Mapkapk2 |
T |
A |
1: 130,985,740 (GRCm39) |
K95* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,491,947 (GRCm39) |
|
probably null |
Het |
| Mex3a |
A |
G |
3: 88,444,084 (GRCm39) |
T387A |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,061,165 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
A |
T |
11: 72,964,300 (GRCm39) |
M417L |
possibly damaging |
Het |
| Nod2 |
A |
C |
8: 89,397,086 (GRCm39) |
E810A |
possibly damaging |
Het |
| Nol3 |
A |
T |
8: 106,006,207 (GRCm39) |
E152V |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,664 (GRCm39) |
E261G |
possibly damaging |
Het |
| Or2h1 |
A |
T |
17: 37,404,058 (GRCm39) |
L236* |
probably null |
Het |
| Or8b12b |
A |
C |
9: 37,684,348 (GRCm39) |
Y131S |
possibly damaging |
Het |
| P3h2 |
T |
C |
16: 25,924,034 (GRCm39) |
S134G |
possibly damaging |
Het |
| Plxna2 |
A |
T |
1: 194,487,222 (GRCm39) |
R1592S |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,137 (GRCm39) |
S250L |
possibly damaging |
Het |
| Rab38 |
A |
G |
7: 88,099,917 (GRCm39) |
D144G |
possibly damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,894 (GRCm39) |
M176V |
probably benign |
Het |
| Spata22 |
C |
T |
11: 73,236,759 (GRCm39) |
T355M |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,468,706 (GRCm39) |
N734S |
probably benign |
Het |
| Tbc1d17 |
C |
A |
7: 44,493,738 (GRCm39) |
R295L |
probably damaging |
Het |
| Thsd7a |
G |
T |
6: 12,504,074 (GRCm39) |
P360Q |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,510,406 (GRCm39) |
N239S |
possibly damaging |
Het |
| Tpst1 |
A |
T |
5: 130,131,279 (GRCm39) |
M250L |
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,578,994 (GRCm39) |
D689V |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,730 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
A |
19: 27,225,370 (GRCm39) |
D816N |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,142 (GRCm39) |
M201L |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,687,374 (GRCm39) |
V219A |
probably damaging |
Het |
| Xndc1 |
T |
C |
7: 101,722,476 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zfp366 |
C |
T |
13: 99,365,015 (GRCm39) |
P59S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,382,685 (GRCm39) |
E616G |
possibly damaging |
Het |
| Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
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 |
|
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 |
|
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'- GGCAATGCATGAAGCTGTATG -3'
(R):5'- GCAGGATCACCAAGTTTGTG -3'
Sequencing Primer
(F):5'- GCATGAAGCTGTATGTTACATAATTC -3'
(R):5'- CTGAGTTCTACTCTCTCATGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation