Incidental Mutation 'IGL02458:Hoxc8'
ID 294523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc8
Ensembl Gene ENSMUSG00000001657
Gene Name homeobox C8
Synonyms Hox-3.1, D130011F21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # IGL02458
Quality Score
Status
Chromosome 15
Chromosomal Location 102899039-102902543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102901181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 208 (N208I)
Ref Sequence ENSEMBL: ENSMUSP00000001703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001703]
AlphaFold P09025
Predicted Effect probably damaging
Transcript: ENSMUST00000001703
AA Change: N208I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001703
Gene: ENSMUSG00000001657
AA Change: N208I

DomainStartEndE-ValueType
HOX 149 211 1.63e-26 SMART
coiled coil region 216 242 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189484
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 of genes. The homeobox genes 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 is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit abnormal growth and axial skeleton morphology. Mice homozygous for a knock-out allele exhibit postnatal lethality, axial skeletal defects, abnormal growth, and abnormal gait. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,206,844 (GRCm39) I37L probably benign Het
Alpk1 A G 3: 127,474,968 (GRCm39) probably null Het
Ankrd33 T C 15: 101,014,488 (GRCm39) F8L probably damaging Het
Avil A G 10: 126,852,222 (GRCm39) K669R probably benign Het
Bcor G T X: 11,914,749 (GRCm39) L1165I probably damaging Het
C7 A G 15: 5,088,871 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,875,896 (GRCm39) I958V probably benign Het
Cenpe A T 3: 134,935,869 (GRCm39) K435* probably null Het
Chrna7 G A 7: 62,755,842 (GRCm39) L235F probably damaging Het
Col6a3 C A 1: 90,706,919 (GRCm39) V2065L unknown Het
Copb1 A T 7: 113,846,020 (GRCm39) N183K probably benign Het
Cpn2 G A 16: 30,079,653 (GRCm39) A16V probably benign Het
Cul1 A G 6: 47,502,542 (GRCm39) K769E possibly damaging Het
Deup1 C T 9: 15,503,656 (GRCm39) V302M probably benign Het
Dnah17 T C 11: 117,927,176 (GRCm39) K3871E probably damaging Het
Dnah6 A G 6: 73,004,431 (GRCm39) V3844A probably benign Het
Dnah7a A T 1: 53,657,487 (GRCm39) L763* probably null Het
Donson A T 16: 91,478,064 (GRCm39) W461R probably damaging Het
Dpp10 T C 1: 123,269,418 (GRCm39) I664V probably benign Het
Dusp8 T A 7: 141,636,484 (GRCm39) T369S probably benign Het
Dync2h1 A T 9: 7,117,422 (GRCm39) L56Q probably damaging Het
Ecd A T 14: 20,374,545 (GRCm39) S532T probably benign Het
Frg2f1 G A 4: 119,388,154 (GRCm39) T115I probably damaging Het
Gpatch2l A G 12: 86,335,735 (GRCm39) probably benign Het
Gtf3c2 T A 5: 31,316,867 (GRCm39) probably null Het
Haghl T C 17: 26,002,470 (GRCm39) probably benign Het
Igf2 T C 7: 142,207,785 (GRCm39) D115G probably benign Het
Jag2 T A 12: 112,879,613 (GRCm39) D385V probably damaging Het
Laptm4b A G 15: 34,258,888 (GRCm39) H54R probably benign Het
Lrp2 A G 2: 69,352,117 (GRCm39) S640P probably damaging Het
Map3k8 A C 18: 4,334,660 (GRCm39) V328G probably damaging Het
Mfsd13a A G 19: 46,360,686 (GRCm39) E388G probably damaging Het
Ms4a13 G A 19: 11,149,292 (GRCm39) T168I probably benign Het
Mtg1 C A 7: 139,730,085 (GRCm39) Q294K probably benign Het
Myh3 C T 11: 66,987,766 (GRCm39) A1413V possibly damaging Het
Neo1 A T 9: 58,801,150 (GRCm39) probably benign Het
Ogfod3 T C 11: 121,091,749 (GRCm39) E119G probably benign Het
Or10ak9 A G 4: 118,726,497 (GRCm39) N173S possibly damaging Het
Or2t49 A T 11: 58,393,073 (GRCm39) M109K probably benign Het
Or4a77 A G 2: 89,487,692 (GRCm39) L31P probably damaging Het
Or5ak20 G A 2: 85,184,006 (GRCm39) T88I probably benign Het
Or6c210 A T 10: 129,496,475 (GRCm39) I267F probably benign Het
Parvb G T 15: 84,187,635 (GRCm39) D248Y probably damaging Het
Pcdh11x A T X: 119,310,315 (GRCm39) H586L possibly damaging Het
Phactr2 T C 10: 13,137,572 (GRCm39) E120G probably damaging Het
Ppfibp2 A T 7: 107,342,171 (GRCm39) Q775L probably damaging Het
Rcbtb1 A G 14: 59,467,443 (GRCm39) Y427C probably damaging Het
Rftn2 A T 1: 55,250,351 (GRCm39) C131* probably null Het
Rigi A G 4: 40,229,536 (GRCm39) S83P probably damaging Het
Rps6ka2 A G 17: 7,556,402 (GRCm39) D474G probably benign Het
Rsbn1l T C 5: 21,156,734 (GRCm39) E17G probably damaging Het
Ryr2 T C 13: 11,720,585 (GRCm39) M2688V probably benign Het
Slc22a18 C A 7: 143,046,574 (GRCm39) probably benign Het
Smarcc1 A G 9: 109,961,194 (GRCm39) probably benign Het
Soat2 T C 15: 102,070,550 (GRCm39) V451A probably damaging Het
Sptlc2 A T 12: 87,356,667 (GRCm39) probably benign Het
Tada1 C T 1: 166,220,203 (GRCm39) L308F probably damaging Het
Tango2 A T 16: 18,128,731 (GRCm39) probably null Het
Tbc1d15 A T 10: 115,065,111 (GRCm39) V158D probably damaging Het
Tmx2 A T 2: 84,503,588 (GRCm39) probably benign Het
Tpte T A 8: 22,795,874 (GRCm39) I79K probably benign Het
Trav6-1 A G 14: 52,876,199 (GRCm39) I40V probably benign Het
Trgv3 A G 13: 19,427,423 (GRCm39) Y102C probably damaging Het
Ubash3a T C 17: 31,450,455 (GRCm39) S377P possibly damaging Het
Vmn2r7 T C 3: 64,600,446 (GRCm39) D575G probably damaging Het
Vps41 A G 13: 19,037,649 (GRCm39) D704G possibly damaging Het
Vwa5a T C 9: 38,638,259 (GRCm39) S261P possibly damaging Het
Zc3hav1 A G 6: 38,317,264 (GRCm39) V112A probably damaging Het
Other mutations in Hoxc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Hoxc8 APN 15 102,901,025 (GRCm39) missense probably damaging 1.00
R6521:Hoxc8 UTSW 15 102,901,135 (GRCm39) missense probably benign 0.19
R7327:Hoxc8 UTSW 15 102,899,542 (GRCm39) missense probably damaging 1.00
R8329:Hoxc8 UTSW 15 102,899,543 (GRCm39) missense probably damaging 1.00
R8930:Hoxc8 UTSW 15 102,899,318 (GRCm39) missense possibly damaging 0.87
R8932:Hoxc8 UTSW 15 102,899,318 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16