Incidental Mutation 'R3880:Evx1'
| ID |
312779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evx1
|
| Ensembl Gene |
ENSMUSG00000005503 |
| Gene Name |
even-skipped homeobox 1 |
| Synonyms |
Evx-1 |
| MMRRC Submission |
040794-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.523)
|
| Stock # |
R3880 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52290483-52295363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52290846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 6
(D6V)
|
| 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: D6V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031787
Gene: ENSMUSG00000005503
AA Change: D6V
| 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: D6V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119111
Gene: ENSMUSG00000005503
AA Change: D6V
| 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 |
0.2775 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
92% (35/38) |
| 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 |
|---|
| Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
| Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
| Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
| Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
possibly 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 |
|
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 |
|
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'- TCACAAGGTGACCCTAGCTC -3'
(R):5'- GAGCTACTAGGTTGCCCTTG -3'
Sequencing Primer
(F):5'- GTGACCCTAGCTCCCCACTG -3'
(R):5'- TGCTAGTCCATCGACCGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation