Incidental Mutation 'R5097:Evi5l'
| ID |
388090 |
| 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 |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4243317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 371
(E371G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176764]
[ENSMUST00000176825]
[ENSMUST00000177053]
|
| AlphaFold |
H3BKQ3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148353
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176072
AA Change: E371G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: E371G
| 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 |
possibly damaging
Transcript: ENSMUST00000176149
AA Change: E371G
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: E371G
| 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: E371G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832
AA Change: E371G
| 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: E371G
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: E371G
| 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: E371G
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832
AA Change: E371G
| 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: ENSMUST00000177309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177130
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
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 |
|
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 |
|
|
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'- CCACAGTACTTCCAGAGAGTC -3'
(R):5'- CATCCGAAGCCAGAGATTGTC -3'
Sequencing Primer
(F):5'- GAGAGTCATCCCCCACCAGTTTG -3'
(R):5'- AGAGATTGTCTGCCCAGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation