Incidental Mutation 'R2175:Evi5l'
ID |
236827 |
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 |
040177-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2175 (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 4237269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 124
(H124R)
|
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 |
probably damaging
Transcript: ENSMUST00000176072
AA Change: H124R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134867 Gene: ENSMUSG00000011832 AA Change: H124R
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: H124R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135479 Gene: ENSMUSG00000011832 AA Change: H124R
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: H124R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134857 Gene: ENSMUSG00000011832 AA Change: H124R
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: H124R
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135700 Gene: ENSMUSG00000011832 AA Change: H124R
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 damaging
Transcript: ENSMUST00000177053
AA Change: H124R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135159 Gene: ENSMUSG00000011832 AA Change: H124R
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: ENSMUST00000177499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177077
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
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 |
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'- CAGATGTCCTCTGTACCACG -3'
(R):5'- ATACTGGAGGGCCTTACCTTC -3'
Sequencing Primer
(F):5'- AGATGTCCTCTGTACCACGTGTAAC -3'
(R):5'- GAGGGCCTTACCTTCATGACATTG -3'
|
Posted On |
2014-10-02 |