Incidental Mutation 'R5689:Evi5l'
ID |
443573 |
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 |
043322-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R5689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 4255460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 542
(Q542*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176764]
[ENSMUST00000176825]
|
AlphaFold |
H3BKQ3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148353
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168386
|
SMART Domains |
Protein: ENSMUSP00000133114 Gene: ENSMUSG00000064125
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
internal_repeat_1
|
63 |
82 |
5.9e-10 |
PROSPERO |
internal_repeat_1
|
87 |
106 |
5.9e-10 |
PROSPERO |
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
low complexity region
|
358 |
388 |
N/A |
INTRINSIC |
low complexity region
|
390 |
425 |
N/A |
INTRINSIC |
low complexity region
|
466 |
497 |
N/A |
INTRINSIC |
low complexity region
|
543 |
567 |
N/A |
INTRINSIC |
low complexity region
|
571 |
612 |
N/A |
INTRINSIC |
low complexity region
|
647 |
726 |
N/A |
INTRINSIC |
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
low complexity region
|
755 |
780 |
N/A |
INTRINSIC |
low complexity region
|
783 |
867 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1045 |
N/A |
INTRINSIC |
Pfam:DUF4596
|
1053 |
1098 |
4.1e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175650
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176072
AA Change: Q495*
|
SMART Domains |
Protein: ENSMUSP00000134867 Gene: ENSMUSG00000011832 AA Change: Q495*
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 null
Transcript: ENSMUST00000176149
AA Change: Q553*
|
SMART Domains |
Protein: ENSMUSP00000135479 Gene: ENSMUSG00000011832 AA Change: Q553*
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: ENSMUST00000176186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176764
|
SMART Domains |
Protein: ENSMUSP00000134857 Gene: ENSMUSG00000011832
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 |
probably null
Transcript: ENSMUST00000176825
AA Change: Q542*
|
SMART Domains |
Protein: ENSMUSP00000135700 Gene: ENSMUSG00000011832 AA Change: Q542*
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 |
noncoding transcript
Transcript: ENSMUST00000177455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177309
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176645
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (63/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp11b |
G |
T |
3: 35,888,501 (GRCm39) |
V924F |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,393,115 (GRCm39) |
V517A |
probably damaging |
Het |
Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
Grin3b |
T |
C |
10: 79,810,465 (GRCm39) |
L657P |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
Ilk |
C |
A |
7: 105,390,857 (GRCm39) |
L267I |
probably benign |
Het |
Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,616,693 (GRCm39) |
H537R |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
probably 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 |
R2158:Evi5l
|
UTSW |
8 |
4,243,195 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- CTTCGCTCAGTTGCCAAAGC -3'
(R):5'- TGAGCTCGTCCTGTAACTCG -3'
Sequencing Primer
(F):5'- TGGAGATTCAGTGCTTTCCC -3'
(R):5'- TGTAACTCGCCCAGGACC -3'
|
Posted On |
2016-11-09 |