Incidental Mutation 'R4351:Evx1'
| ID |
328505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evx1
|
| Ensembl Gene |
ENSMUSG00000005503 |
| Gene Name |
even-skipped homeobox 1 |
| Synonyms |
Evx-1 |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.523)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52290483-52295363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52290846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 6
(D6G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031787]
[ENSMUST00000129243]
|
| AlphaFold |
P23683 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031787
AA Change: D6G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031787
Gene: ENSMUSG00000005503
AA Change: D6G
| 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 |
probably damaging
Transcript: ENSMUST00000129243
AA Change: D6G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119111
Gene: ENSMUSG00000005503
AA Change: D6G
| 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 |
0.0885 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
probably damaging |
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 |
|
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 |
|
R6390:Evx1
|
UTSW |
6 |
52,292,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CATCACAAGGTGACCCTAGC -3'
(R):5'- GAGCTACTAGGTTGCCCTTG -3'
Sequencing Primer
(F):5'- AAGGTGACCCTAGCTCCCC -3'
(R):5'- TGCTAGTCCATCGACCGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation