Incidental Mutation 'IGL02674:Meox1'
ID 303040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meox1
Ensembl Gene ENSMUSG00000001493
Gene Name mesenchyme homeobox 1
Synonyms Mox1, Mox-1, squig, D330041M02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02674
Quality Score
Status
Chromosome 11
Chromosomal Location 101768336-101785200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101784767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 22 (L22H)
Ref Sequence ENSEMBL: ENSMUSP00000051158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057054]
AlphaFold P32442
Predicted Effect probably damaging
Transcript: ENSMUST00000057054
AA Change: L22H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051158
Gene: ENSMUSG00000001493
AA Change: L22H

DomainStartEndE-ValueType
Blast:HOX 59 140 2e-34 BLAST
low complexity region 141 154 N/A INTRINSIC
HOX 170 232 3.59e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147438
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 molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hemi-vertebrae, and rib, vertebral, and cranial-vertebral fusions, but are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 72,983,643 (GRCm39) R689G probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Akna A T 4: 63,289,181 (GRCm39) C1247* probably null Het
Appl1 T G 14: 26,671,418 (GRCm39) T345P possibly damaging Het
Chga A G 12: 102,529,160 (GRCm39) D379G probably damaging Het
Chrna6 C T 8: 27,896,879 (GRCm39) A333T probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnhd1 A G 7: 105,370,688 (GRCm39) Q4656R probably benign Het
Dock9 A C 14: 121,833,023 (GRCm39) probably null Het
Fat4 A G 3: 39,037,486 (GRCm39) N3713D probably benign Het
Fsd1 A T 17: 56,303,483 (GRCm39) T452S probably benign Het
G6pc2 A G 2: 69,056,910 (GRCm39) probably null Het
Gfus T C 15: 75,798,238 (GRCm39) D178G probably damaging Het
Itprid1 A G 6: 55,874,913 (GRCm39) T288A probably benign Het
Kcnh4 C A 11: 100,637,720 (GRCm39) V646L possibly damaging Het
Kcnk1 T C 8: 126,751,753 (GRCm39) Y120H probably damaging Het
L3mbtl3 C T 10: 26,158,711 (GRCm39) E646K unknown Het
Lrrc4c T C 2: 97,460,120 (GRCm39) W249R probably damaging Het
Mrgpra4 C T 7: 47,630,690 (GRCm39) V304M probably benign Het
Ncaph T C 2: 126,955,496 (GRCm39) Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 (GRCm39) probably null Het
Or10p1 A C 10: 129,443,939 (GRCm39) M137R possibly damaging Het
Or8g37 A G 9: 39,730,934 (GRCm39) probably null Het
Otol1 C T 3: 69,926,077 (GRCm39) P84L probably benign Het
Pcdhb11 T C 18: 37,556,667 (GRCm39) S666P probably damaging Het
Pou2f3 T C 9: 43,050,628 (GRCm39) K244R probably damaging Het
Ppp6r1 T C 7: 4,649,812 (GRCm39) N51S probably damaging Het
Prdm4 A T 10: 85,729,263 (GRCm39) L715M probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rsc1a1 G T 4: 141,411,406 (GRCm39) P502Q probably damaging Het
Senp1 T C 15: 97,954,840 (GRCm39) E448G probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Skint5 A C 4: 113,487,582 (GRCm39) probably benign Het
Tmprss15 T G 16: 78,798,682 (GRCm39) T667P possibly damaging Het
Vps13b A T 15: 35,640,104 (GRCm39) M1325L probably benign Het
Zfp263 T C 16: 3,564,629 (GRCm39) probably benign Het
Zfp786 A G 6: 47,797,427 (GRCm39) F504L probably benign Het
Other mutations in Meox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Meox1 APN 11 101,784,599 (GRCm39) missense probably benign 0.00
R0325:Meox1 UTSW 11 101,770,227 (GRCm39) missense probably damaging 1.00
R5595:Meox1 UTSW 11 101,770,169 (GRCm39) missense probably damaging 1.00
R6404:Meox1 UTSW 11 101,769,482 (GRCm39) missense probably benign 0.01
R6768:Meox1 UTSW 11 101,770,161 (GRCm39) missense probably damaging 1.00
R7075:Meox1 UTSW 11 101,784,569 (GRCm39) missense probably damaging 0.98
R9644:Meox1 UTSW 11 101,769,482 (GRCm39) missense probably benign 0.16
R9779:Meox1 UTSW 11 101,769,470 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16