Incidental Mutation 'R8474:Evi5l'
| ID |
657167 |
| 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 |
067918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4216523-4258089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4260784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1011
(H1011R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176764]
[ENSMUST00000176825]
[ENSMUST00000177491]
|
| AlphaFold |
H3BKQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168386
AA Change: H1011R
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: H1011R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
63 |
82 |
5.9e-10 |
PROSPERO |
|
internal_repeat_1
|
87 |
106 |
5.9e-10 |
PROSPERO |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1045 |
N/A |
INTRINSIC |
|
Pfam:DUF4596
|
1053 |
1098 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176072
|
| SMART Domains |
Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
| 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 |
unknown
Transcript: ENSMUST00000176645
AA Change: C180R
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
| 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 benign
Transcript: ENSMUST00000177491
|
| SMART Domains |
Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
63 |
82 |
1.65e-6 |
PROSPERO |
|
internal_repeat_1
|
87 |
106 |
1.65e-6 |
PROSPERO |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,576,638 (GRCm39) |
S975T |
probably damaging |
Het |
| Adgrg1 |
C |
G |
8: 95,729,936 (GRCm39) |
T46S |
probably damaging |
Het |
| Akip1 |
T |
A |
7: 109,306,697 (GRCm39) |
D131E |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,015 (GRCm39) |
V163A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,301,433 (GRCm39) |
|
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,325 (GRCm39) |
L357* |
probably null |
Het |
| Bcat2 |
A |
G |
7: 45,237,075 (GRCm39) |
N194S |
probably damaging |
Het |
| Bcl2l14 |
T |
C |
6: 134,400,720 (GRCm39) |
L47P |
probably benign |
Het |
| Cbln1 |
C |
T |
8: 88,198,673 (GRCm39) |
A66T |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,710,262 (GRCm39) |
|
probably benign |
Het |
| Cd70 |
C |
T |
17: 57,456,468 (GRCm39) |
S45N |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,886,363 (GRCm39) |
A84V |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,710,792 (GRCm39) |
N804Y |
possibly damaging |
Het |
| Cmah |
A |
T |
13: 24,601,350 (GRCm39) |
N52I |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,043,518 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,487 (GRCm39) |
P344T |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,247,978 (GRCm39) |
E705G |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,377,016 (GRCm39) |
Y125C |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,266 (GRCm39) |
Y739C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,767,929 (GRCm39) |
M203K |
possibly damaging |
Het |
| Enpep |
C |
T |
3: 129,113,076 (GRCm39) |
V283M |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,108,170 (GRCm39) |
F677I |
probably benign |
Het |
| Gramd1b |
A |
G |
9: 40,287,207 (GRCm39) |
|
probably null |
Het |
| Gse1 |
C |
T |
8: 121,295,123 (GRCm39) |
|
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,506 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,752,566 (GRCm39) |
S1173R |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,556,605 (GRCm39) |
T718I |
possibly damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,262 (GRCm39) |
L65P |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,107,798 (GRCm39) |
I22T |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,572 (GRCm39) |
C4409R |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,783 (GRCm39) |
W131R |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,404,839 (GRCm39) |
T190A |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,563 (GRCm39) |
D721G |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,561,745 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,903,411 (GRCm39) |
D1809A |
probably damaging |
Het |
| Nudcd2 |
C |
T |
11: 40,624,850 (GRCm39) |
Q20* |
probably null |
Het |
| Or4f62 |
T |
C |
2: 111,986,320 (GRCm39) |
M8T |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,357 (GRCm39) |
L112P |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,048 (GRCm39) |
L106H |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,272 (GRCm39) |
D335V |
probably damaging |
Het |
| Pebp4 |
T |
A |
14: 70,085,136 (GRCm39) |
C65S |
possibly damaging |
Het |
| Ptger1 |
C |
T |
8: 84,395,267 (GRCm39) |
A248V |
probably benign |
Het |
| Qki |
A |
T |
17: 10,537,747 (GRCm39) |
M19K |
probably benign |
Het |
| Ralgapa2 |
C |
G |
2: 146,266,750 (GRCm39) |
A609P |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,150 (GRCm39) |
G875D |
probably damaging |
Het |
| Runx2 |
A |
G |
17: 44,919,147 (GRCm39) |
V375A |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,836,730 (GRCm39) |
F841I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,757,552 (GRCm39) |
D514G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,934,586 (GRCm39) |
T623S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,078,963 (GRCm39) |
S588G |
probably benign |
Het |
| Stxbp6 |
A |
C |
12: 44,949,704 (GRCm39) |
V75G |
possibly damaging |
Het |
| Tmc3 |
G |
A |
7: 83,259,122 (GRCm39) |
R531Q |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,550 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tsks |
A |
T |
7: 44,600,263 (GRCm39) |
T91S |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,599 (GRCm39) |
V169A |
probably benign |
Het |
| Wdr54 |
T |
C |
6: 83,129,985 (GRCm39) |
N282S |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,052,584 (GRCm39) |
N79K |
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 |
|
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 |
|
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'- CACATCATCTGGGGAGAAGC -3'
(R):5'- CTACGAATCTGAAGGACCAGAG -3'
Sequencing Primer
(F):5'- AGTGATGCTGGCACGAGACTC -3'
(R):5'- TCTGAAGGACCAGAGTCGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation