Incidental Mutation 'R8105:Meox2'
| ID |
630693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meox2
|
| Ensembl Gene |
ENSMUSG00000036144 |
| Gene Name |
mesenchyme homeobox 2 |
| Synonyms |
Mox2, Mox-2, Gax |
| MMRRC Submission |
067536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R8105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37158539-37229533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37159061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 78
(H78Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041183]
|
| AlphaFold |
P32443 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041183
AA Change: H78Y
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043587
Gene: ENSMUSG00000036144
AA Change: H78Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
|
HOX
|
186 |
248 |
1.56e-28 |
SMART |
|
low complexity region
|
289 |
300 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0776 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Several mutations that inactivate the gene result in mild defects of rib and vertebrae development. Inactivation in conjunction with a null mutation in a related homeobox gene results in more severe defects stemming from impaired somite formation, patterning, and differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
G |
A |
17: 5,341,518 (GRCm39) |
A941T |
possibly damaging |
Het |
| Calb1 |
A |
T |
4: 15,900,767 (GRCm39) |
|
probably null |
Het |
| Cc2d1b |
T |
C |
4: 108,485,130 (GRCm39) |
S518P |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,598,438 (GRCm39) |
V975I |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,567 (GRCm39) |
W62R |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,027,505 (GRCm39) |
Y276H |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,372,548 (GRCm39) |
V2933A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,847 (GRCm39) |
T253A |
unknown |
Het |
| Fndc3b |
G |
A |
3: 27,524,374 (GRCm39) |
T462I |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,395,354 (GRCm39) |
N359K |
probably damaging |
Het |
| Gmppa |
T |
C |
1: 75,413,641 (GRCm39) |
V34A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,255,949 (GRCm39) |
T484A |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,510 (GRCm39) |
E264G |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,569,588 (GRCm39) |
F182S |
probably benign |
Het |
| Ly9 |
G |
C |
1: 171,432,890 (GRCm39) |
|
probably null |
Het |
| Mynn |
G |
A |
3: 30,665,628 (GRCm39) |
C420Y |
possibly damaging |
Het |
| Or52e18 |
C |
G |
7: 104,609,629 (GRCm39) |
M103I |
probably benign |
Het |
| Rfx1 |
C |
G |
8: 84,814,505 (GRCm39) |
A358G |
possibly damaging |
Het |
| Rnf151 |
G |
A |
17: 24,935,400 (GRCm39) |
T177I |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,682,748 (GRCm39) |
N578H |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,948,925 (GRCm39) |
I240M |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,538,231 (GRCm39) |
V1824I |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,476 (GRCm39) |
F208L |
probably benign |
Het |
| Vldlr |
C |
T |
19: 27,216,204 (GRCm39) |
Q342* |
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,245 (GRCm39) |
F274L |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,915,352 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Meox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02675:Meox2
|
APN |
12 |
37,228,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02935:Meox2
|
APN |
12 |
37,159,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1173:Meox2
|
UTSW |
12 |
37,159,151 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1306:Meox2
|
UTSW |
12 |
37,159,030 (GRCm39) |
small deletion |
probably benign |
|
|
R1705:Meox2
|
UTSW |
12 |
37,217,493 (GRCm39) |
splice site |
probably benign |
|
|
R2104:Meox2
|
UTSW |
12 |
37,217,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Meox2
|
UTSW |
12 |
37,158,935 (GRCm39) |
missense |
probably benign |
|
|
R6118:Meox2
|
UTSW |
12 |
37,159,030 (GRCm39) |
small deletion |
probably benign |
|
|
R6414:Meox2
|
UTSW |
12 |
37,158,830 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
R7016:Meox2
|
UTSW |
12 |
37,159,223 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7373:Meox2
|
UTSW |
12 |
37,158,797 (GRCm39) |
start gained |
probably benign |
|
|
X0023:Meox2
|
UTSW |
12 |
37,159,144 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAACTTGCATGCCATGGAAC -3'
(R):5'- CCAGGCTAGATGAGTTGGAAC -3'
Sequencing Primer
(F):5'- GGAACACCCCCTCTTTGG -3'
(R):5'- CTAGATGAGTTGGAACACAGGACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation