Incidental Mutation 'R1155:Hoxc6'
ID 101684
Institutional Source Beutler Lab
Gene Symbol Hoxc6
Ensembl Gene ENSMUSG00000001661
Gene Name homeobox C6
Synonyms Hox-6.1, Hox-3.3
MMRRC Submission 039228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1155 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 102906689-102920313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102919279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 172 (I172V)
Ref Sequence ENSEMBL: ENSMUSP00000001711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001709] [ENSMUST00000001711]
AlphaFold P10629
Predicted Effect probably benign
Transcript: ENSMUST00000001709
SMART Domains Protein: ENSMUSP00000001709
Gene: ENSMUSG00000022485

DomainStartEndE-ValueType
low complexity region 69 85 N/A INTRINSIC
HOX 155 217 3.03e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000001711
AA Change: I172V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001711
Gene: ENSMUSG00000001661
AA Change: I172V

DomainStartEndE-ValueType
HOX 141 203 2.39e-24 SMART
low complexity region 221 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174869
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a transformation of thoracic vertebra 2 to a form similar to that of T1. Mammary glands do not develop normally resulting in poor lactation and poor survival of pups. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,270 (GRCm39) E121G possibly damaging Het
Abtb3 A T 10: 85,465,155 (GRCm39) H665L probably damaging Het
Adgrg1 G A 8: 95,733,468 (GRCm39) V307I possibly damaging Het
Cilp A G 9: 65,176,869 (GRCm39) T42A probably benign Het
Col6a3 T A 1: 90,722,047 (GRCm39) K1493M probably null Het
Col6a6 A G 9: 105,659,289 (GRCm39) V552A possibly damaging Het
Cradd T C 10: 95,158,586 (GRCm39) T54A probably benign Het
Elfn2 A G 15: 78,557,344 (GRCm39) I401T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Knl1 T C 2: 118,901,635 (GRCm39) L1112P possibly damaging Het
Lipo4 T A 19: 33,480,595 (GRCm39) I258F probably benign Het
Morf4l1 A G 9: 89,976,557 (GRCm39) V257A probably benign Het
Or51a8 A T 7: 102,549,819 (GRCm39) M82L probably benign Het
Rnpepl1 T A 1: 92,844,609 (GRCm39) M367K probably damaging Het
Robo2 A G 16: 73,831,996 (GRCm39) L228P probably damaging Het
Samd9l T A 6: 3,376,939 (GRCm39) E107D probably benign Het
Shc1 A G 3: 89,332,126 (GRCm39) I194V probably benign Het
Slc25a46 A G 18: 31,716,668 (GRCm39) I278T probably benign Het
Tmem178 T A 17: 81,308,429 (GRCm39) C275S possibly damaging Het
Tpsg1 A T 17: 25,592,768 (GRCm39) Q40L possibly damaging Het
Trank1 A G 9: 111,196,038 (GRCm39) E1354G possibly damaging Het
Vit T C 17: 78,873,456 (GRCm39) I44T probably damaging Het
Vstm5 T C 9: 15,168,849 (GRCm39) S138P probably damaging Het
Other mutations in Hoxc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02233:Hoxc6 APN 15 102,918,308 (GRCm39) missense probably benign
R1613:Hoxc6 UTSW 15 102,918,017 (GRCm39) start gained probably benign
R1978:Hoxc6 UTSW 15 102,918,439 (GRCm39) critical splice donor site probably null
R3420:Hoxc6 UTSW 15 102,919,327 (GRCm39) missense probably damaging 1.00
R3421:Hoxc6 UTSW 15 102,919,327 (GRCm39) missense probably damaging 1.00
R4578:Hoxc6 UTSW 15 102,918,093 (GRCm39) missense probably benign 0.04
R7543:Hoxc6 UTSW 15 102,918,186 (GRCm39) missense probably damaging 1.00
R8075:Hoxc6 UTSW 15 102,919,325 (GRCm39) missense probably damaging 1.00
R8170:Hoxc6 UTSW 15 102,918,293 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-01-15