Incidental Mutation 'IGL02675:Meox2'
ID303097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meox2
Ensembl Gene ENSMUSG00000036144
Gene Namemesenchyme homeobox 2
SynonymsGax, Mox2, Mox-2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.879) question?
Stock #IGL02675
Quality Score
Status
Chromosome12
Chromosomal Location37108540-37179534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37178334 bp
ZygosityHeterozygous
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]
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: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Meox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02935:Meox2 APN 12 37109105 missense probably damaging 0.99
R1173:Meox2 UTSW 12 37109152 missense possibly damaging 0.95
R1306:Meox2 UTSW 12 37109031 small deletion probably benign
R1705:Meox2 UTSW 12 37167494 splice site probably benign
R2104:Meox2 UTSW 12 37167477 missense probably damaging 1.00
R5028:Meox2 UTSW 12 37108936 missense probably benign
R6118:Meox2 UTSW 12 37109031 small deletion probably benign
R6414:Meox2 UTSW 12 37108831 start codon destroyed probably benign 0.33
R7016:Meox2 UTSW 12 37109224 missense probably benign 0.07
R7373:Meox2 UTSW 12 37108798 start gained probably benign
R8105:Meox2 UTSW 12 37109062 missense possibly damaging 0.72
X0023:Meox2 UTSW 12 37109145 missense possibly damaging 0.85
Posted On2015-04-16