Incidental Mutation 'R7985:Evi5l'
| ID |
651431 |
| 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 |
046026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4253536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 471
(D471G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176764]
[ENSMUST00000176825]
|
| AlphaFold |
H3BKQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176072
AA Change: D413G
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: D413G
| 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 benign
Transcript: ENSMUST00000176149
AA Change: D471G
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: D471G
| 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 |
probably benign
Transcript: ENSMUST00000176645
|
| 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 benign
Transcript: ENSMUST00000176825
AA Change: D460G
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: D460G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,494,693 (GRCm39) |
S77R |
unknown |
Het |
| Adamts1 |
T |
C |
16: 85,595,002 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,398 (GRCm39) |
V683E |
|
Het |
| Allc |
T |
G |
12: 28,603,971 (GRCm39) |
T371P |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,191 (GRCm39) |
I1414T |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,717 (GRCm39) |
K672E |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,826,964 (GRCm39) |
S418T |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,413 (GRCm39) |
V12A |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,734,409 (GRCm39) |
E410G |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,036,564 (GRCm39) |
F680S |
probably damaging |
Het |
| Cracd |
T |
C |
5: 76,805,897 (GRCm39) |
V123A |
unknown |
Het |
| Csf3 |
G |
A |
11: 98,593,273 (GRCm39) |
G130D |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,073,342 (GRCm39) |
Q169L |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,102,430 (GRCm39) |
W20R |
probably null |
Het |
| Dguok |
C |
T |
6: 83,457,914 (GRCm39) |
E240K |
probably damaging |
Het |
| Dlg1 |
T |
G |
16: 31,606,923 (GRCm39) |
Y220* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,630,055 (GRCm39) |
I488T |
probably benign |
Het |
| Dock1 |
G |
T |
7: 134,348,683 (GRCm39) |
C299F |
possibly damaging |
Het |
| Ebi3 |
C |
T |
17: 56,260,997 (GRCm39) |
T59M |
probably benign |
Het |
| Esrp1 |
G |
A |
4: 11,367,153 (GRCm39) |
S160F |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,504,246 (GRCm39) |
F341S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,143,798 (GRCm39) |
V2777A |
probably benign |
Het |
| Glcci1 |
T |
C |
6: 8,573,186 (GRCm39) |
I225T |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,176 (GRCm39) |
T63A |
unknown |
Het |
| Gm9767 |
A |
G |
10: 25,954,681 (GRCm39) |
T78A |
unknown |
Het |
| H2-T5 |
T |
G |
17: 36,478,445 (GRCm39) |
T168P |
probably damaging |
Het |
| Habp4 |
T |
A |
13: 64,323,860 (GRCm39) |
M261K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,992 (GRCm39) |
T2744A |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,464,223 (GRCm39) |
V39A |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,772 (GRCm39) |
T129I |
possibly damaging |
Het |
| Itfg1 |
A |
G |
8: 86,452,197 (GRCm39) |
I534T |
probably damaging |
Het |
| Klhl33 |
A |
T |
14: 51,128,962 (GRCm39) |
C496S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,350,214 (GRCm39) |
V713D |
possibly damaging |
Het |
| Mon2 |
G |
T |
10: 122,852,213 (GRCm39) |
H1052Q |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,778,478 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
A |
T |
2: 127,587,829 (GRCm39) |
M582K |
probably damaging |
Het |
| Nt5el |
C |
T |
13: 105,256,482 (GRCm39) |
T517I |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or2w3b |
A |
G |
11: 58,623,532 (GRCm39) |
V153A |
possibly damaging |
Het |
| Or8b47 |
T |
A |
9: 38,435,239 (GRCm39) |
D70E |
probably damaging |
Het |
| Padi2 |
A |
T |
4: 140,659,403 (GRCm39) |
H236L |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,503 (GRCm39) |
I75V |
probably benign |
Het |
| Pycr1 |
A |
T |
11: 120,533,746 (GRCm39) |
M37K |
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,085,212 (GRCm39) |
N317K |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,806 (GRCm39) |
D732E |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,914,843 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
A |
G |
5: 142,113,602 (GRCm39) |
T1550A |
probably damaging |
Het |
| Shisa6 |
G |
T |
11: 66,265,990 (GRCm39) |
T246K |
|
Het |
| Sis |
A |
T |
3: 72,844,294 (GRCm39) |
|
probably null |
Het |
| Slc22a14 |
A |
C |
9: 118,999,704 (GRCm39) |
S496A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,767 (GRCm39) |
R351C |
probably damaging |
Het |
| Surf2 |
A |
G |
2: 26,809,288 (GRCm39) |
K202R |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,935,984 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,983 (GRCm39) |
N134I |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,245,687 (GRCm39) |
V1308A |
|
Het |
| Xpr1 |
G |
A |
1: 155,188,641 (GRCm39) |
A333V |
possibly damaging |
Het |
| Zfp408 |
A |
T |
2: 91,476,776 (GRCm39) |
M126K |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,116,263 (GRCm39) |
Q259R |
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 |
|
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 |
|
|
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 |
|
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'- GGCCTTCTAGTGCCATGAAC -3'
(R):5'- ATCTGACAGACATGCAGGTG -3'
Sequencing Primer
(F):5'- GAACTTAGCATGGGTTCAACC -3'
(R):5'- GAAGATGATGTCAAGTGTCCTACCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation