Incidental Mutation 'R6390:Evx1'
| ID |
515723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evx1
|
| Ensembl Gene |
ENSMUSG00000005503 |
| Gene Name |
even-skipped homeobox 1 |
| Synonyms |
Evx-1 |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.523)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52290483-52295363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52292842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 183
(M183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031787]
[ENSMUST00000129243]
|
| AlphaFold |
P23683 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031787
AA Change: M183V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000031787
Gene: ENSMUSG00000005503
AA Change: M183V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
HOX
|
183 |
245 |
1.07e-26 |
SMART |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125305
|
| Predicted Effect |
silent
Transcript: ENSMUST00000129243
|
| SMART Domains |
Protein: ENSMUSP00000119111
Gene: ENSMUSG00000005503
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137258
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a particular targeted mutation are embryonic lethal. Another heritable cre-generated allele exhibits defects of the interneurons of the ventral spinal cord, and rarely, a kinked tail. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Evx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03048:Evx1
|
UTSW |
6 |
52,292,739 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4802001:Evx1
|
UTSW |
6 |
52,291,175 (GRCm39) |
nonsense |
probably null |
|
|
R1352:Evx1
|
UTSW |
6 |
52,293,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Evx1
|
UTSW |
6 |
52,293,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3880:Evx1
|
UTSW |
6 |
52,290,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Evx1
|
UTSW |
6 |
52,290,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Evx1
|
UTSW |
6 |
52,291,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Evx1
|
UTSW |
6 |
52,293,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5637:Evx1
|
UTSW |
6 |
52,292,751 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5834:Evx1
|
UTSW |
6 |
52,292,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Evx1
|
UTSW |
6 |
52,291,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6221:Evx1
|
UTSW |
6 |
52,293,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7085:Evx1
|
UTSW |
6 |
52,293,677 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8127:Evx1
|
UTSW |
6 |
52,290,902 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8907:Evx1
|
UTSW |
6 |
52,293,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Evx1
|
UTSW |
6 |
52,293,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Evx1
|
UTSW |
6 |
52,292,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Evx1
|
UTSW |
6 |
52,293,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGGTTCTCCTTCTAATGCC -3'
(R):5'- TACATAGCCACCTCGAGGATC -3'
Sequencing Primer
(F):5'- CAGCCTGAAGTCAGCATTTG -3'
(R):5'- TAGCCACCTCGAGGATCCTAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation