Incidental Mutation 'R1306:Meox2'
| ID |
157808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meox2
|
| Ensembl Gene |
ENSMUSG00000036144 |
| Gene Name |
mesenchyme homeobox 2 |
| Synonyms |
Mox2, Mox-2, Gax |
| MMRRC Submission |
039372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.860)
|
| Stock # |
R1306 (G1)
|
| Quality Score |
105 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
37158539-37229533 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCACCACCACCACCACCACCA to GCACCACCACCACCACCA
at 37159030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041183]
|
| AlphaFold |
P32443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041183
|
| SMART Domains |
Protein: ENSMUSP00000043587
Gene: ENSMUSG00000036144
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222665
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
| Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
| Bend5 |
C |
T |
4: 111,316,970 (GRCm39) |
Q127* |
probably null |
Het |
| Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
| Dok3 |
C |
A |
13: 55,675,261 (GRCm39) |
E86* |
probably null |
Het |
| Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
| Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
| Pnma8a |
A |
G |
7: 16,695,950 (GRCm39) |
R428G |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,598,388 (GRCm39) |
S195P |
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
| Tm4sf19 |
G |
A |
16: 32,226,720 (GRCm39) |
V170M |
probably damaging |
Het |
| Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly 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 |
|
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 |
|
|
R8105:Meox2
|
UTSW |
12 |
37,159,061 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
X0023:Meox2
|
UTSW |
12 |
37,159,144 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTGGAAGCCGAAACTTGC -3'
(R):5'- GCTAGATGAGTTGGAACACAGGACC -3'
Sequencing Primer
(F):5'- ATGGAACACCCCCTCTTTGG -3'
(R):5'- ACAGGACCGGAGGGCTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation