Incidental Mutation 'R0280:Evi5l'
ID |
37457 |
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 |
038502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R0280 (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 4243133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 339
(V339A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134867
(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: V339A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134867 Gene: ENSMUSG00000011832 AA Change: V339A
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: V339A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135479 Gene: ENSMUSG00000011832 AA Change: V339A
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 benign
Transcript: ENSMUST00000176764
AA Change: V339A
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134857 Gene: ENSMUSG00000011832 AA Change: V339A
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 benign
Transcript: ENSMUST00000176825
AA Change: V339A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000135700 Gene: ENSMUSG00000011832 AA Change: V339A
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 |
probably benign
Transcript: ENSMUST00000177053
AA Change: V339A
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000135159 Gene: ENSMUSG00000011832 AA Change: V339A
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 |
0.1093 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
Ankrd16 |
T |
G |
2: 11,786,312 (GRCm39) |
V187G |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
Gm973 |
GCC |
GC |
1: 59,583,839 (GRCm39) |
|
probably null |
Het |
Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
Plcl2 |
A |
G |
17: 50,914,062 (GRCm39) |
E357G |
probably damaging |
Het |
Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
probably benign |
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 |
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 |
|
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'- GGCTCATGGCACACAGTATCTCAC -3'
(R):5'- GGCACTCACTTTGATCTCGATCTGC -3'
Sequencing Primer
(F):5'- ggatgggactcaggtcagg -3'
(R):5'- TTCTCCAGCCTGTGAGGAC -3'
|
Posted On |
2013-05-23 |