Incidental Mutation 'R5500:Evi5l'
| ID |
430565 |
| 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 |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4241658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 329
(M329K)
|
| 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: M329K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: M329K
| 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: M329K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: M329K
| 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 |
possibly damaging
Transcript: ENSMUST00000176764
AA Change: M329K
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832
AA Change: M329K
| 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 |
possibly damaging
Transcript: ENSMUST00000176825
AA Change: M329K
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: M329K
| 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: M329K
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832
AA Change: M329K
| 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: ENSMUST00000177077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177130
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,948,841 (GRCm39) |
|
probably null |
Het |
| Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,462,611 (GRCm39) |
I293T |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
| Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,806,526 (GRCm39) |
V107E |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,528 (GRCm39) |
T20A |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
| Rnf111 |
C |
A |
9: 70,383,325 (GRCm39) |
G203C |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
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 |
|
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 |
|
|
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'- CACGTGGAGAGAATCACATCCC -3'
(R):5'- TTCTATTGGGAAGCCAGCCC -3'
Sequencing Primer
(F):5'- AGGAGTCCTAGCTAACAGGAC -3'
(R):5'- CCTCCTGAGTGTTGGGACTAAAGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation