Incidental Mutation 'R3862:Evi2'
| ID |
276407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evi2
|
| Ensembl Gene |
ENSMUSG00000070354 |
| Gene Name |
ecotropic viral integration site 2 |
| Synonyms |
Gm21975 |
| MMRRC Submission |
040903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R3862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79404211-79421415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79406472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 368
(I368F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071325]
[ENSMUST00000093983]
[ENSMUST00000108251]
[ENSMUST00000170422]
[ENSMUST00000179322]
|
| AlphaFold |
Q8VD58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071325
|
| SMART Domains |
Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
1189 |
1559 |
2.56e-151 |
SMART |
|
SEC14
|
1585 |
1737 |
2.36e-11 |
SMART |
|
low complexity region
|
2619 |
2629 |
N/A |
INTRINSIC |
|
low complexity region
|
2750 |
2763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093983
|
| SMART Domains |
Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EVI2A
|
1 |
75 |
1.2e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108251
|
| SMART Domains |
Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
1189 |
1538 |
1.23e-153 |
SMART |
|
SEC14
|
1564 |
1716 |
2.36e-11 |
SMART |
|
low complexity region
|
2598 |
2608 |
N/A |
INTRINSIC |
|
low complexity region
|
2729 |
2742 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170422
AA Change: I368F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: I368F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
204 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179322
AA Change: I368F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: I368F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
204 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
444 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Evi2a (ecotropic viral integration site 2a) and Evi2b (ecotropic viral integration site 2b) genes on chromosome 11. The readthrough transcript encodes a protein identical to that of the downstream gene product. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
| Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
| Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
| Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Evi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1540:Evi2
|
UTSW |
11 |
79,406,412 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1570:Evi2
|
UTSW |
11 |
79,407,076 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3863:Evi2
|
UTSW |
11 |
79,406,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3864:Evi2
|
UTSW |
11 |
79,406,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4427:Evi2
|
UTSW |
11 |
79,407,182 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4796:Evi2
|
UTSW |
11 |
79,406,273 (GRCm39) |
intron |
probably benign |
|
|
R6342:Evi2
|
UTSW |
11 |
79,406,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7391:Evi2
|
UTSW |
11 |
79,406,493 (GRCm39) |
missense |
probably benign |
|
|
R8477:Evi2
|
UTSW |
11 |
79,406,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8481:Evi2
|
UTSW |
11 |
79,406,288 (GRCm39) |
intron |
probably benign |
|
|
R9711:Evi2
|
UTSW |
11 |
79,406,971 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9718:Evi2
|
UTSW |
11 |
79,406,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAACTCCTGGCATTGAGC -3'
(R):5'- GCACACTGCTAGCAGATGATTTAG -3'
Sequencing Primer
(F):5'- GCATTGAGCCTCGTGGG -3'
(R):5'- GCAACCTCAAGACTGATAATGTAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation