Incidental Mutation 'R1195:Msx1'
ID500180
Institutional Source Beutler Lab
Gene Symbol Msx1
Ensembl Gene ENSMUSG00000048450
Gene Namemsh homeobox 1
SynonymsHox7.1, Hox7, Hox-7, msh, muscle-segment homeobox
MMRRC Submission 039267-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1195 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location37820485-37824583 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37821281 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 297 (Y297H)
Ref Sequence ENSEMBL: ENSMUSP00000058354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063116]
PDB Structure
Msx-1 Homeodomain/DNA Complex Structure [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000063116
AA Change: Y297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058354
Gene: ENSMUSG00000048450
AA Change: Y297H

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
Meta Mutation Damage Score 0.5140 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 81.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a C A 13: 30,381,918 P322Q probably damaging Het
Amh AGCGCCTTGG AG 10: 80,805,585 probably null Het
Brd1 T C 15: 88,700,811 E940G probably benign Het
Cd28 C T 1: 60,763,144 T74I possibly damaging Het
Cntnap2 T A 6: 46,483,968 M646K probably benign Het
Cyb5d1 C T 11: 69,394,971 probably null Het
D430042O09Rik A G 7: 125,866,482 R1343G probably damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dst A G 1: 34,211,154 D4063G probably damaging Het
Elmod1 T C 9: 53,935,768 Y42C probably damaging Het
Fam129b T C 2: 32,919,803 V304A probably benign Het
Hdac5 T C 11: 102,205,506 I310V probably damaging Het
Ighv10-1 A T 12: 114,479,395 probably benign Het
Igsf3 A G 3: 101,458,103 D1130G probably benign Het
Kdm4d A G 9: 14,463,099 S488P probably benign Het
Lingo2 A G 4: 35,708,538 Y481H probably damaging Het
Ltbp1 A G 17: 75,225,285 Q118R possibly damaging Het
Map3k20 C T 2: 72,438,218 P523L probably damaging Het
Myo9a A G 9: 59,895,200 D1990G probably damaging Het
Perp C A 10: 18,855,735 Y147* probably null Het
Prr16 A T 18: 51,302,683 D78V probably damaging Het
Rfx7 C T 9: 72,617,946 T806M probably damaging Het
Robo2 T C 16: 73,916,128 probably null Het
Sema5b A T 16: 35,651,660 E496V probably null Het
Shf G A 2: 122,368,682 P51S probably damaging Het
Spdl1 T C 11: 34,819,817 Y368C probably damaging Het
Sptbn2 G C 19: 4,745,893 R1700P possibly damaging Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Tln2 T G 9: 67,258,566 K1000Q probably damaging Het
Tmbim7 A G 5: 3,661,943 T63A probably benign Het
Tmed11 T C 5: 108,779,019 D129G possibly damaging Het
Ttc28 G A 5: 111,225,677 S962N probably damaging Het
Ttll6 T C 11: 96,135,729 I113T probably damaging Het
Uso1 T A 5: 92,170,747 F210L probably damaging Het
Uspl1 T A 5: 149,194,321 V224E probably benign Het
Zfp639 G A 3: 32,519,196 V86I possibly damaging Het
Other mutations in Msx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02877:Msx1 APN 5 37824000 missense possibly damaging 0.69
R1195:Msx1 UTSW 5 37821281 missense probably damaging 1.00
R4063:Msx1 UTSW 5 37824021 missense probably benign 0.01
R8056:Msx1 UTSW 5 37824200 missense probably benign
Z1177:Msx1 UTSW 5 37824015 missense possibly damaging 0.55
Predicted Primers
Posted On2017-12-01