Incidental Mutation 'IGL02675:Meox2'
ID 303097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meox2
Ensembl Gene ENSMUSG00000036144
Gene Name mesenchyme homeobox 2
Synonyms Mox2, Mox-2, Gax
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # IGL02675
Quality Score
Status
Chromosome 12
Chromosomal Location 37158539-37229533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37228333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 290 (D290G)
Ref Sequence ENSEMBL: ENSMUSP00000043587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041183]
AlphaFold P32443
Predicted Effect probably damaging
Transcript: ENSMUST00000041183
AA Change: D290G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043587
Gene: ENSMUSG00000036144
AA Change: D290G

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,936,184 (GRCm39) I204T probably damaging Het
Anxa8 A G 14: 33,815,371 (GRCm39) D150G probably damaging Het
Arel1 T C 12: 84,977,002 (GRCm39) T438A probably damaging Het
Asphd1 T C 7: 126,546,006 (GRCm39) probably benign Het
Bcl2l12 A T 7: 44,640,824 (GRCm39) probably benign Het
Cand1 A G 10: 119,055,602 (GRCm39) I87T probably damaging Het
Ccdc80 A C 16: 44,936,695 (GRCm39) T707P probably damaging Het
Ccn6 A G 10: 39,027,236 (GRCm39) V332A possibly damaging Het
Cdh9 T A 15: 16,849,162 (GRCm39) probably null Het
Chrd T C 16: 20,558,699 (GRCm39) probably benign Het
Cpn1 T C 19: 43,969,369 (GRCm39) Q98R probably benign Het
D630045J12Rik A G 6: 38,172,420 (GRCm39) S583P possibly damaging Het
Dnah7a A G 1: 53,543,183 (GRCm39) I2329T possibly damaging Het
Egln3 A G 12: 54,249,996 (GRCm39) S118P probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Hapln3 C T 7: 78,767,596 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,185 (GRCm39) F180L possibly damaging Het
Herc2 T A 7: 55,813,849 (GRCm39) S2661T probably damaging Het
Hook3 A T 8: 26,551,462 (GRCm39) L126Q possibly damaging Het
Hoxd8 T G 2: 74,536,930 (GRCm39) L214R probably damaging Het
Ifna1 T G 4: 88,768,670 (GRCm39) L116R probably damaging Het
Il31ra T A 13: 112,660,886 (GRCm39) T487S probably benign Het
Kifc2 C T 15: 76,547,179 (GRCm39) R252W probably damaging Het
Micu2 A G 14: 58,182,834 (GRCm39) probably benign Het
Myh9 T C 15: 77,673,130 (GRCm39) T406A possibly damaging Het
Naip1 T A 13: 100,545,626 (GRCm39) M1301L probably benign Het
Pbrm1 T C 14: 30,828,244 (GRCm39) L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,261,323 (GRCm39) A194E probably benign Het
Pdcd10 G A 3: 75,434,901 (GRCm39) T130I probably damaging Het
Pprc1 G A 19: 46,051,946 (GRCm39) G491D probably damaging Het
Prss57 A G 10: 79,623,309 (GRCm39) V46A probably benign Het
Ptcd3 A G 6: 71,860,426 (GRCm39) probably null Het
Riok1 C T 13: 38,234,219 (GRCm39) P262S probably damaging Het
Rnf13 A G 3: 57,686,817 (GRCm39) N70S probably benign Het
Skint7 T A 4: 111,839,178 (GRCm39) D157E probably benign Het
Sri T C 5: 8,117,534 (GRCm39) F191S probably damaging Het
Stat5b T C 11: 100,678,200 (GRCm39) R638G probably benign Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Tmem19 A G 10: 115,178,478 (GRCm39) L281P probably damaging Het
Tmf1 A G 6: 97,141,003 (GRCm39) probably benign Het
Trio A G 15: 27,768,125 (GRCm39) probably benign Het
Usp28 T C 9: 48,950,391 (GRCm39) I940T possibly damaging Het
Zfp280d T A 9: 72,219,504 (GRCm39) I227K probably benign Het
Zfp335 A G 2: 164,752,609 (GRCm39) V45A probably benign Het
Other mutations in Meox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16