Incidental Mutation 'R2383:Evx2'
| ID |
247591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evx2
|
| Ensembl Gene |
ENSMUSG00000001815 |
| Gene Name |
even-skipped homeobox 2 |
| Synonyms |
Evx-2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R2383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
74483335-74489901 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 74488393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001867]
[ENSMUST00000173623]
|
| AlphaFold |
P49749 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001867
|
| SMART Domains |
Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
187 |
N/A |
INTRINSIC |
|
HOX
|
190 |
252 |
5.66e-26 |
SMART |
|
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173623
|
| SMART Domains |
Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
188 |
N/A |
INTRINSIC |
|
HOX
|
191 |
253 |
5.66e-26 |
SMART |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
434 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is located at the 5' end of the Hoxd gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. The encoded protein plays a role in limb morphogenesis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, male infertility, short limbs, and abnormalities in phalanx, carpal bone and metacarpal bone morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
| Kics2 |
A |
G |
10: 121,586,554 (GRCm39) |
T290A |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,329,272 (GRCm39) |
D295E |
probably damaging |
Het |
| Or2f1b |
A |
T |
6: 42,739,393 (GRCm39) |
M136L |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
| Sla |
T |
A |
15: 66,654,525 (GRCm39) |
I254F |
probably damaging |
Het |
| Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,111,407 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Evx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0133:Evx2
|
UTSW |
2 |
74,489,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0195:Evx2
|
UTSW |
2 |
74,489,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Evx2
|
UTSW |
2 |
74,489,478 (GRCm39) |
missense |
probably benign |
|
|
R0610:Evx2
|
UTSW |
2 |
74,486,331 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0645:Evx2
|
UTSW |
2 |
74,488,238 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1608:Evx2
|
UTSW |
2 |
74,488,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Evx2
|
UTSW |
2 |
74,489,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2156:Evx2
|
UTSW |
2 |
74,486,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Evx2
|
UTSW |
2 |
74,489,675 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5407:Evx2
|
UTSW |
2 |
74,488,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Evx2
|
UTSW |
2 |
74,489,606 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6704:Evx2
|
UTSW |
2 |
74,486,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Evx2
|
UTSW |
2 |
74,489,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8394:Evx2
|
UTSW |
2 |
74,486,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8757:Evx2
|
UTSW |
2 |
74,486,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9217:Evx2
|
UTSW |
2 |
74,488,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0017:Evx2
|
UTSW |
2 |
74,488,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGTAGTTCTCCCTGTAGAAC -3'
(R):5'- TTTGGTTAGGAAGGGCTCCC -3'
Sequencing Primer
(F):5'- GTAGAACTCTTTCTCCAGGCG -3'
(R):5'- GGGCTCCCCAAACTTCATTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation