Incidental Mutation 'R2158:Evi5l'
ID |
234985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evi5l
|
Ensembl Gene |
ENSMUSG00000011832 |
Gene Name |
ecotropic viral integration site 5 like |
Synonyms |
B130050I23Rik, 2310039H16Rik, 1700084G18Rik, 3110007G05Rik |
MMRRC Submission |
040161-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4243195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 360
(Y360H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176764]
[ENSMUST00000176825]
[ENSMUST00000177053]
|
AlphaFold |
H3BKQ3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148353
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176072
AA Change: Y360H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134867 Gene: ENSMUSG00000011832 AA Change: Y360H
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
415 |
451 |
4.14e-7 |
PROSPERO |
coiled coil region
|
455 |
478 |
N/A |
INTRINSIC |
internal_repeat_1
|
513 |
549 |
4.14e-7 |
PROSPERO |
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
low complexity region
|
732 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176149
AA Change: Y360H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135479 Gene: ENSMUSG00000011832 AA Change: Y360H
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
463 |
509 |
1.56e-7 |
PROSPERO |
coiled coil region
|
513 |
536 |
N/A |
INTRINSIC |
internal_repeat_1
|
563 |
607 |
1.56e-7 |
PROSPERO |
low complexity region
|
755 |
766 |
N/A |
INTRINSIC |
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176462
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176764
AA Change: Y360H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134857 Gene: ENSMUSG00000011832 AA Change: Y360H
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
4e-8 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
coiled coil region
|
363 |
452 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176825
AA Change: Y360H
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135700 Gene: ENSMUSG00000011832 AA Change: Y360H
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
452 |
498 |
1.86e-7 |
PROSPERO |
coiled coil region
|
502 |
525 |
N/A |
INTRINSIC |
internal_repeat_1
|
552 |
596 |
1.86e-7 |
PROSPERO |
low complexity region
|
744 |
755 |
N/A |
INTRINSIC |
low complexity region
|
779 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177053
AA Change: Y360H
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135159 Gene: ENSMUSG00000011832 AA Change: Y360H
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
3e-8 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177309
|
Meta Mutation Damage Score |
0.2020 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
possibly damaging |
Het |
|
Other mutations in Evi5l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01812:Evi5l
|
APN |
8 |
4,243,219 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02143:Evi5l
|
APN |
8 |
4,241,293 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02322:Evi5l
|
APN |
8 |
4,237,236 (GRCm39) |
splice site |
probably benign |
|
IGL02528:Evi5l
|
APN |
8 |
4,243,172 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02822:Evi5l
|
APN |
8 |
4,237,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R0280:Evi5l
|
UTSW |
8 |
4,243,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Evi5l
|
UTSW |
8 |
4,253,560 (GRCm39) |
missense |
probably damaging |
0.98 |
R2032:Evi5l
|
UTSW |
8 |
4,260,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R2175:Evi5l
|
UTSW |
8 |
4,237,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R2357:Evi5l
|
UTSW |
8 |
4,243,113 (GRCm39) |
splice site |
probably benign |
|
R3055:Evi5l
|
UTSW |
8 |
4,241,603 (GRCm39) |
nonsense |
probably null |
|
R3724:Evi5l
|
UTSW |
8 |
4,228,080 (GRCm39) |
intron |
probably benign |
|
R3956:Evi5l
|
UTSW |
8 |
4,241,358 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4342:Evi5l
|
UTSW |
8 |
4,233,492 (GRCm39) |
utr 5 prime |
probably benign |
|
R4621:Evi5l
|
UTSW |
8 |
4,252,909 (GRCm39) |
intron |
probably benign |
|
R4622:Evi5l
|
UTSW |
8 |
4,252,909 (GRCm39) |
intron |
probably benign |
|
R4959:Evi5l
|
UTSW |
8 |
4,255,406 (GRCm39) |
missense |
probably benign |
0.00 |
R4973:Evi5l
|
UTSW |
8 |
4,255,406 (GRCm39) |
missense |
probably benign |
0.00 |
R5052:Evi5l
|
UTSW |
8 |
4,256,019 (GRCm39) |
intron |
probably benign |
|
R5097:Evi5l
|
UTSW |
8 |
4,243,317 (GRCm39) |
missense |
probably damaging |
0.97 |
R5344:Evi5l
|
UTSW |
8 |
4,235,990 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5357:Evi5l
|
UTSW |
8 |
4,253,623 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5376:Evi5l
|
UTSW |
8 |
4,260,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R5382:Evi5l
|
UTSW |
8 |
4,228,653 (GRCm39) |
intron |
probably benign |
|
R5500:Evi5l
|
UTSW |
8 |
4,241,658 (GRCm39) |
missense |
probably damaging |
0.96 |
R5554:Evi5l
|
UTSW |
8 |
4,256,491 (GRCm39) |
splice site |
probably benign |
|
R5689:Evi5l
|
UTSW |
8 |
4,255,460 (GRCm39) |
nonsense |
probably null |
|
R5788:Evi5l
|
UTSW |
8 |
4,256,800 (GRCm39) |
utr 3 prime |
probably benign |
|
R6321:Evi5l
|
UTSW |
8 |
4,253,080 (GRCm39) |
missense |
probably benign |
|
R6520:Evi5l
|
UTSW |
8 |
4,255,906 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6620:Evi5l
|
UTSW |
8 |
4,256,674 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6707:Evi5l
|
UTSW |
8 |
4,256,322 (GRCm39) |
missense |
probably benign |
|
R7232:Evi5l
|
UTSW |
8 |
4,255,906 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7692:Evi5l
|
UTSW |
8 |
4,250,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R7985:Evi5l
|
UTSW |
8 |
4,253,536 (GRCm39) |
missense |
probably benign |
0.27 |
R8162:Evi5l
|
UTSW |
8 |
4,241,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8474:Evi5l
|
UTSW |
8 |
4,260,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8512:Evi5l
|
UTSW |
8 |
4,243,121 (GRCm39) |
missense |
probably benign |
0.01 |
R8758:Evi5l
|
UTSW |
8 |
4,255,860 (GRCm39) |
missense |
probably benign |
0.13 |
R8970:Evi5l
|
UTSW |
8 |
4,236,154 (GRCm39) |
splice site |
probably benign |
|
R9138:Evi5l
|
UTSW |
8 |
4,233,582 (GRCm39) |
missense |
probably benign |
0.03 |
X0062:Evi5l
|
UTSW |
8 |
4,241,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGCCTGAGTGCTGAGAC -3'
(R):5'- ATTTGTAAGGGAAAGCCTCAGG -3'
Sequencing Primer
(F):5'- TGCTGAGACAAAGAGAAGCCTC -3'
(R):5'- AGGCACTCACTTTGATCTCG -3'
|
Posted On |
2014-10-01 |