Incidental Mutation 'R0585:Evi5'
| ID |
55707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi5
|
| Ensembl Gene |
ENSMUSG00000011831 |
| Gene Name |
ecotropic viral integration site 5 |
| Synonyms |
NB4S |
| MMRRC Submission |
038775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0585 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
107892661-108022973 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 107961402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112642]
[ENSMUST00000124034]
[ENSMUST00000128723]
[ENSMUST00000138111]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112642
|
| SMART Domains |
Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
80 |
N/A |
INTRINSIC |
|
Blast:TBC
|
81 |
157 |
2e-16 |
BLAST |
|
TBC
|
160 |
371 |
7.92e-91 |
SMART |
|
internal_repeat_1
|
450 |
477 |
8.83e-6 |
PROSPERO |
|
internal_repeat_1
|
494 |
521 |
8.83e-6 |
PROSPERO |
|
coiled coil region
|
555 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124034
|
| SMART Domains |
Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
3e-17 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128723
|
| SMART Domains |
Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
2e-16 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
internal_repeat_1
|
466 |
493 |
2.66e-6 |
PROSPERO |
|
internal_repeat_1
|
510 |
537 |
2.66e-6 |
PROSPERO |
|
coiled coil region
|
571 |
660 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138111
|
| SMART Domains |
Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Blast:TBC
|
37 |
113 |
3e-17 |
BLAST |
|
TBC
|
116 |
327 |
7.92e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155897
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
| Ces2e |
T |
C |
8: 105,656,453 (GRCm39) |
S228P |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
| Eps8l3 |
G |
C |
3: 107,788,513 (GRCm39) |
D33H |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,721 (GRCm39) |
V267A |
probably benign |
Het |
| Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
| Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
| Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,583,346 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
| Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
G |
A |
9: 36,821,056 (GRCm39) |
|
probably benign |
Het |
| Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
| Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
| Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
| Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
| Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
probably damaging |
Het |
|
| Other mutations in Evi5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Evi5
|
APN |
5 |
107,963,477 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01458:Evi5
|
APN |
5 |
107,963,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Evi5
|
APN |
5 |
107,912,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Evi5
|
APN |
5 |
107,964,790 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02170:Evi5
|
APN |
5 |
107,969,750 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02539:Evi5
|
APN |
5 |
107,963,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02655:Evi5
|
APN |
5 |
107,961,446 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03040:Evi5
|
APN |
5 |
107,969,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Evi5
|
APN |
5 |
107,896,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0125:Evi5
|
UTSW |
5 |
107,943,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0172:Evi5
|
UTSW |
5 |
107,938,328 (GRCm39) |
missense |
probably benign |
|
|
R0334:Evi5
|
UTSW |
5 |
107,968,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0335:Evi5
|
UTSW |
5 |
107,960,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0526:Evi5
|
UTSW |
5 |
107,969,614 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0579:Evi5
|
UTSW |
5 |
107,969,575 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1123:Evi5
|
UTSW |
5 |
107,968,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1618:Evi5
|
UTSW |
5 |
107,946,984 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Evi5
|
UTSW |
5 |
107,966,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Evi5
|
UTSW |
5 |
107,943,707 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1969:Evi5
|
UTSW |
5 |
107,896,230 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1977:Evi5
|
UTSW |
5 |
107,947,005 (GRCm39) |
nonsense |
probably null |
|
|
R2010:Evi5
|
UTSW |
5 |
107,961,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3736:Evi5
|
UTSW |
5 |
107,966,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5047:Evi5
|
UTSW |
5 |
107,969,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Evi5
|
UTSW |
5 |
107,943,618 (GRCm39) |
missense |
probably benign |
|
|
R5350:Evi5
|
UTSW |
5 |
107,963,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5552:Evi5
|
UTSW |
5 |
107,966,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Evi5
|
UTSW |
5 |
107,968,317 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5895:Evi5
|
UTSW |
5 |
107,968,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Evi5
|
UTSW |
5 |
107,968,387 (GRCm39) |
nonsense |
probably null |
|
|
R6364:Evi5
|
UTSW |
5 |
107,989,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Evi5
|
UTSW |
5 |
107,990,027 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6861:Evi5
|
UTSW |
5 |
107,896,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Evi5
|
UTSW |
5 |
107,936,147 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7386:Evi5
|
UTSW |
5 |
107,957,689 (GRCm39) |
splice site |
probably null |
|
|
R7844:Evi5
|
UTSW |
5 |
108,022,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Evi5
|
UTSW |
5 |
107,966,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8298:Evi5
|
UTSW |
5 |
107,964,731 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9081:Evi5
|
UTSW |
5 |
107,963,571 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9431:Evi5
|
UTSW |
5 |
107,990,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Evi5
|
UTSW |
5 |
107,957,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Evi5
|
UTSW |
5 |
107,943,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9634:Evi5
|
UTSW |
5 |
107,964,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9765:Evi5
|
UTSW |
5 |
107,947,120 (GRCm39) |
missense |
probably benign |
|
|
X0018:Evi5
|
UTSW |
5 |
107,966,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0027:Evi5
|
UTSW |
5 |
107,912,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Evi5
|
UTSW |
5 |
107,896,245 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAGACGGAGAGCAACTTCAGTC -3'
(R):5'- GCATCAGGTGTTGTTGCCATGAAC -3'
Sequencing Primer
(F):5'- tgtatagccctggctgtcc -3'
(R):5'- gcctcagaatcagagatatgcc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation