Incidental Mutation 'IGL02877:Msx1'
ID 362669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msx1
Ensembl Gene ENSMUSG00000048450
Gene Name msh homeobox 1
Synonyms Hox7.1, Hox7, Hox-7, msh, muscle-segment homeobox
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02877
Quality Score
Status
Chromosome 5
Chromosomal Location 37977835-37981929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37981344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 112 (P112S)
Ref Sequence ENSEMBL: ENSMUSP00000058354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063116]
AlphaFold P13297
PDB Structure Msx-1 Homeodomain/DNA Complex Structure [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063116
AA Change: P112S

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058354
Gene: ENSMUSG00000048450
AA Change: P112S

DomainStartEndE-ValueType
low complexity region 22 50 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
HOX 172 234 1.37e-24 SMART
low complexity region 237 250 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183013
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 the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants affect craniofacial neural crest-derived mesenchyme by controlling cell cycle progression. Homozygous null mutants die at birth with multiple craniofacial defects including cleft palate, reduced mandible and maxilla, and retarded tooth development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,078,875 (GRCm39) Y712* probably null Het
Adcy5 A G 16: 35,118,970 (GRCm39) D1107G probably damaging Het
Ankhd1 C A 18: 36,727,876 (GRCm39) T504K probably damaging Het
Asb18 C T 1: 89,880,533 (GRCm39) C160Y possibly damaging Het
Capn13 A G 17: 73,629,050 (GRCm39) S586P probably damaging Het
Cdhr2 A T 13: 54,882,550 (GRCm39) T1199S probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cnot8 A G 11: 58,002,228 (GRCm39) E87G probably benign Het
Crnkl1 C A 2: 145,762,591 (GRCm39) E525* probably null Het
Eif2d T C 1: 131,092,854 (GRCm39) probably benign Het
Flywch1 A G 17: 23,979,388 (GRCm39) S416P probably damaging Het
Glcci1 T C 6: 8,582,757 (GRCm39) S373P probably damaging Het
Gli3 A G 13: 15,899,327 (GRCm39) R905G probably damaging Het
Hcn4 T C 9: 58,766,450 (GRCm39) V706A unknown Het
Ift74 T C 4: 94,513,018 (GRCm39) probably null Het
Ighv8-6 A T 12: 115,129,700 (GRCm39) S19T probably damaging Het
Knl1 T A 2: 118,919,312 (GRCm39) N1821K probably benign Het
Nes A G 3: 87,882,968 (GRCm39) D409G probably benign Het
Nsmf A T 2: 24,945,968 (GRCm39) I152F possibly damaging Het
Nt5c1a T A 4: 123,109,867 (GRCm39) I322N probably damaging Het
Or7g27 T C 9: 19,250,497 (GRCm39) V247A possibly damaging Het
Pnpla8 A G 12: 44,330,248 (GRCm39) T49A probably benign Het
Ptx3 A G 3: 66,132,196 (GRCm39) Y239C probably damaging Het
Rarg G T 15: 102,150,374 (GRCm39) probably null Het
Slc33a1 G A 3: 63,850,806 (GRCm39) T506I probably benign Het
Spem2 T G 11: 69,708,521 (GRCm39) H148P probably benign Het
Trim24 A G 6: 37,942,581 (GRCm39) D961G probably damaging Het
Vmn2r14 G A 5: 109,368,054 (GRCm39) H313Y probably damaging Het
Other mutations in Msx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1195:Msx1 UTSW 5 37,978,625 (GRCm39) missense probably damaging 1.00
R1195:Msx1 UTSW 5 37,978,625 (GRCm39) missense probably damaging 1.00
R4063:Msx1 UTSW 5 37,981,365 (GRCm39) missense probably benign 0.01
R8056:Msx1 UTSW 5 37,981,544 (GRCm39) missense probably benign
R9287:Msx1 UTSW 5 37,978,795 (GRCm39) missense probably damaging 1.00
R9297:Msx1 UTSW 5 37,981,756 (GRCm39) start gained probably benign
Z1177:Msx1 UTSW 5 37,981,359 (GRCm39) missense possibly damaging 0.55
Posted On 2015-12-18