Incidental Mutation 'IGL02233:Hoxc6'
ID 285796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc6
Ensembl Gene ENSMUSG00000001661
Gene Name homeobox C6
Synonyms Hox-6.1, Hox-3.3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02233
Quality Score
Status
Chromosome 15
Chromosomal Location 102906689-102920313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102918308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 91 (T91A)
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 benign
Transcript: ENSMUST00000001711
AA Change: T91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001711
Gene: ENSMUSG00000001661
AA Change: T91A

DomainStartEndE-ValueType
HOX 141 203 2.39e-24 SMART
low complexity region 221 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174869
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,165,170 (GRCm39) Q1581* probably null Het
Abcc10 A T 17: 46,635,085 (GRCm39) probably null Het
Adam25 A G 8: 41,208,423 (GRCm39) Y563C probably damaging Het
Cnr2 T A 4: 135,644,522 (GRCm39) I200N possibly damaging Het
Col5a2 T C 1: 45,422,747 (GRCm39) probably null Het
Cpa2 T C 6: 30,557,666 (GRCm39) probably benign Het
Dis3l2 T C 1: 86,917,953 (GRCm39) V534A probably damaging Het
Dlg2 A T 7: 92,093,746 (GRCm39) D845V probably damaging Het
Dnah8 T C 17: 30,925,487 (GRCm39) probably null Het
Ephb4 T A 5: 137,352,763 (GRCm39) Y115* probably null Het
Evc2 A G 5: 37,535,681 (GRCm39) Y452C probably damaging Het
Fbn1 A G 2: 125,163,530 (GRCm39) probably benign Het
Gm5134 A T 10: 75,844,334 (GRCm39) probably null Het
Gpr157 A G 4: 150,186,184 (GRCm39) T249A possibly damaging Het
Lin9 C A 1: 180,516,865 (GRCm39) A535E probably damaging Het
Muc1 G A 3: 89,138,935 (GRCm39) V515I probably benign Het
Mup3 A G 4: 62,003,016 (GRCm39) I170T probably damaging Het
Myo1e T C 9: 70,291,081 (GRCm39) probably benign Het
Or3a1d A G 11: 74,238,254 (GRCm39) V52A possibly damaging Het
Or8b50 A G 9: 38,518,538 (GRCm39) Y259C probably damaging Het
Pde4d T C 13: 109,877,084 (GRCm39) S202P probably damaging Het
Pomt2 A G 12: 87,158,185 (GRCm39) V676A probably benign Het
Rasl10a C A 11: 5,008,333 (GRCm39) L10M probably damaging Het
Rilp T C 11: 75,403,538 (GRCm39) Y327H probably damaging Het
Sec23ip A G 7: 128,380,903 (GRCm39) S957G probably damaging Het
Srbd1 T C 17: 86,406,050 (GRCm39) probably null Het
Thsd7a T C 6: 12,555,257 (GRCm39) H209R probably benign Het
Trav14-3 T C 14: 54,000,643 (GRCm39) probably benign Het
Vipr2 A G 12: 116,058,356 (GRCm39) N91S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Hoxc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1155:Hoxc6 UTSW 15 102,919,279 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16