Incidental Mutation 'R6364:Evi5'
ID |
513400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evi5
|
Ensembl Gene |
ENSMUSG00000011831 |
Gene Name |
ecotropic viral integration site 5 |
Synonyms |
NB4S |
MMRRC Submission |
044514-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6364 (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 107989979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 80
(P80Q)
|
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: P80Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108261 Gene: ENSMUSG00000011831 AA Change: P80Q
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 |
noncoding transcript
Transcript: ENSMUST00000117837
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124034
AA Change: P36Q
|
SMART Domains |
Protein: ENSMUSP00000121761 Gene: ENSMUSG00000011831 AA Change: P36Q
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 |
unknown
Transcript: ENSMUST00000128723
AA Change: P36Q
|
SMART Domains |
Protein: ENSMUSP00000114845 Gene: ENSMUSG00000011831 AA Change: P36Q
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 |
unknown
Transcript: ENSMUST00000138111
AA Change: P36Q
|
SMART Domains |
Protein: ENSMUSP00000119196 Gene: ENSMUSG00000011831 AA Change: P36Q
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: ENSMUST00000155955
AA Change: P64Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119758 Gene: ENSMUSG00000011831 AA Change: P64Q
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
|
Meta Mutation Damage Score |
0.2764 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,869,673 (GRCm39) |
Y234C |
possibly damaging |
Het |
Ambra1 |
C |
A |
2: 91,603,661 (GRCm39) |
H548Q |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,546,328 (GRCm39) |
|
probably null |
Het |
Apol11b |
A |
G |
15: 77,522,258 (GRCm39) |
V13A |
possibly damaging |
Het |
Arhgdib |
C |
T |
6: 136,909,253 (GRCm39) |
|
probably null |
Het |
B3galt1 |
T |
A |
2: 67,949,016 (GRCm39) |
S244T |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,214,633 (GRCm39) |
I274V |
probably benign |
Het |
Bfsp2 |
A |
T |
9: 103,325,827 (GRCm39) |
V272D |
probably damaging |
Het |
Blm |
A |
T |
7: 80,144,274 (GRCm39) |
C782* |
probably null |
Het |
Cfi |
G |
A |
3: 129,666,495 (GRCm39) |
S406N |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
A |
7: 24,972,248 (GRCm39) |
H660N |
possibly damaging |
Het |
Cops3 |
A |
G |
11: 59,726,230 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,950,939 (GRCm39) |
V502I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,352 (GRCm39) |
D412E |
probably damaging |
Het |
Epop |
A |
G |
11: 97,519,513 (GRCm39) |
S199P |
probably benign |
Het |
Faf1 |
T |
C |
4: 109,818,997 (GRCm39) |
V623A |
possibly damaging |
Het |
Fam83c |
T |
C |
2: 155,676,443 (GRCm39) |
D109G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,179 (GRCm39) |
|
probably null |
Het |
Flacc1 |
G |
T |
1: 58,697,531 (GRCm39) |
A403D |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,952 (GRCm39) |
N71D |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,756,402 (GRCm39) |
R1016G |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,507,878 (GRCm39) |
E396G |
possibly damaging |
Het |
Htra2 |
C |
A |
6: 83,030,027 (GRCm39) |
V311F |
probably damaging |
Het |
Kif6 |
A |
T |
17: 49,927,651 (GRCm39) |
T33S |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,634 (GRCm39) |
I3070V |
probably null |
Het |
Krtap5-2 |
A |
T |
7: 141,728,800 (GRCm39) |
C293* |
probably null |
Het |
Lrp3 |
T |
A |
7: 34,903,134 (GRCm39) |
D404V |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,473,005 (GRCm39) |
D105G |
probably benign |
Het |
Mc2r |
T |
G |
18: 68,540,607 (GRCm39) |
I229L |
probably benign |
Het |
Mtnr1b |
A |
G |
9: 15,774,300 (GRCm39) |
M253T |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,094,909 (GRCm39) |
N531S |
probably benign |
Het |
Niban3 |
G |
A |
8: 72,051,733 (GRCm39) |
G23S |
probably benign |
Het |
Npr2 |
T |
A |
4: 43,643,622 (GRCm39) |
I550N |
probably damaging |
Het |
Npy6r |
T |
C |
18: 44,409,578 (GRCm39) |
I333T |
possibly damaging |
Het |
Nup88 |
C |
T |
11: 70,838,612 (GRCm39) |
R468Q |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,825,522 (GRCm39) |
T422I |
probably damaging |
Het |
Or10aa1 |
T |
A |
1: 173,869,778 (GRCm39) |
H87Q |
possibly damaging |
Het |
Otud4 |
A |
G |
8: 80,372,970 (GRCm39) |
N96S |
probably damaging |
Het |
Paqr6 |
T |
C |
3: 88,273,265 (GRCm39) |
F86L |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,138,035 (GRCm39) |
T90S |
probably benign |
Het |
Ptbp2 |
A |
T |
3: 119,534,091 (GRCm39) |
N23K |
probably damaging |
Het |
Ralgapb |
G |
T |
2: 158,304,029 (GRCm39) |
G596V |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,521,068 (GRCm39) |
R94H |
probably benign |
Het |
Rergl |
A |
T |
6: 139,477,746 (GRCm39) |
F28I |
probably damaging |
Het |
Rif1 |
G |
T |
2: 51,997,681 (GRCm39) |
S1000I |
probably damaging |
Het |
Rnf141 |
C |
T |
7: 110,420,516 (GRCm39) |
A163T |
possibly damaging |
Het |
Scaf4 |
G |
A |
16: 90,057,136 (GRCm39) |
Q72* |
probably null |
Het |
Sdk1 |
G |
T |
5: 141,948,464 (GRCm39) |
S603I |
probably benign |
Het |
Sdsl |
T |
C |
5: 120,598,674 (GRCm39) |
I147M |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,495 (GRCm39) |
N85D |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,327,315 (GRCm39) |
I204T |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,964,146 (GRCm39) |
S795G |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,413 (GRCm39) |
Q254* |
probably null |
Het |
Slc30a3 |
G |
A |
5: 31,246,083 (GRCm39) |
P216S |
possibly damaging |
Het |
Smim14 |
T |
A |
5: 65,610,639 (GRCm39) |
I53F |
probably benign |
Het |
Sp3 |
T |
C |
2: 72,801,285 (GRCm39) |
T243A |
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,745,465 (GRCm39) |
F164L |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,543,910 (GRCm39) |
F4403L |
probably damaging |
Het |
Tbc1d30 |
T |
C |
10: 121,130,630 (GRCm39) |
T267A |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmbim6 |
T |
C |
15: 99,304,066 (GRCm39) |
L113P |
probably damaging |
Het |
Tmcc1 |
G |
A |
6: 116,020,722 (GRCm39) |
|
probably benign |
Het |
Tomm7 |
A |
G |
5: 24,049,028 (GRCm39) |
L15P |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,691,875 (GRCm39) |
Y263C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,985,733 (GRCm39) |
F456S |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vmn2r108 |
A |
G |
17: 20,691,260 (GRCm39) |
I421T |
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,964,649 (GRCm39) |
E676G |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,331,598 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
C |
A |
2: 168,754,186 (GRCm39) |
G25V |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,763,079 (GRCm39) |
P326H |
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 |
|
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'- GGCAATGCATGAAGCTGTATG -3'
(R):5'- AGCAGGATCACCAAGTTTGTGG -3'
Sequencing Primer
(F):5'- GCATGAAGCTGTATGTTACATAATTC -3'
(R):5'- CCCTTAGGTGGCGACAGACAAG -3'
|
Posted On |
2018-04-27 |