Incidental Mutation 'R6521:Hoxc8'
ID 521318
Institutional Source Beutler Lab
Gene Symbol Hoxc8
Ensembl Gene ENSMUSG00000001657
Gene Name homeobox C8
Synonyms Hox-3.1, D130011F21Rik
MMRRC Submission 044647-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.742) question?
Stock # R6521 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102899039-102902543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102901135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 193 (V193M)
Ref Sequence ENSEMBL: ENSMUSP00000001703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001703]
AlphaFold P09025
Predicted Effect probably benign
Transcript: ENSMUST00000001703
AA Change: V193M

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000001703
Gene: ENSMUSG00000001657
AA Change: V193M

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
Meta Mutation Damage Score 0.5311 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,968 (GRCm39) S356T probably benign Het
Acsbg2 T C 17: 57,168,565 (GRCm39) M185V probably benign Het
Adgrv1 A T 13: 81,581,771 (GRCm39) F4758I probably damaging Het
Ank3 A G 10: 69,828,596 (GRCm39) probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ano4 A G 10: 88,819,640 (GRCm39) V537A probably damaging Het
Catsper2 A G 2: 121,237,288 (GRCm39) L204P probably damaging Het
Cdh20 A C 1: 104,869,859 (GRCm39) D193A probably damaging Het
Ceacam5 T C 7: 17,484,756 (GRCm39) probably null Het
Celf4 T A 18: 25,612,531 (GRCm39) probably null Het
Cfap91 A G 16: 38,127,121 (GRCm39) V545A probably benign Het
Crebbp A T 16: 3,936,992 (GRCm39) F754I probably damaging Het
Cyfip2 A T 11: 46,145,415 (GRCm39) I635N probably damaging Het
Erbb4 T A 1: 68,081,689 (GRCm39) D1131V probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Klhdc3 A G 17: 46,988,687 (GRCm39) V124A probably benign Het
Klhl18 A G 9: 110,257,703 (GRCm39) I509T possibly damaging Het
Mdfic T A 6: 15,729,027 (GRCm39) probably benign Het
Mkln1 T A 6: 31,467,479 (GRCm39) D64E probably damaging Het
Mmd2 A G 5: 142,560,585 (GRCm39) I112T probably damaging Het
Mpl C T 4: 118,312,314 (GRCm39) probably null Het
Mtmr4 A G 11: 87,504,353 (GRCm39) T1044A possibly damaging Het
Muc5b C A 7: 141,412,908 (GRCm39) Y1951* probably null Het
Myo15a C T 11: 60,393,195 (GRCm39) H2240Y probably damaging Het
Nckap5 A T 1: 126,309,909 (GRCm39) I74K probably damaging Het
Nfxl1 A T 5: 72,697,651 (GRCm39) probably null Het
Or11j4 T C 14: 50,631,005 (GRCm39) V264A possibly damaging Het
Or2ah1 A T 2: 85,653,794 (GRCm39) I160F probably benign Het
Or4c11c A G 2: 88,661,700 (GRCm39) I80V probably benign Het
Or8d2 C T 9: 38,759,893 (GRCm39) T161I probably benign Het
Piezo2 T C 18: 63,154,399 (GRCm39) Y2460C probably damaging Het
Pigx A G 16: 31,906,129 (GRCm39) L64P probably damaging Het
Prss1 C T 6: 41,440,615 (GRCm39) T230I probably damaging Het
Ptma A G 1: 86,455,569 (GRCm39) probably null Het
Rab39 T C 9: 53,617,331 (GRCm39) T29A probably benign Het
Rem2 C T 14: 54,715,144 (GRCm39) A107V possibly damaging Het
Senp1 A G 15: 97,946,152 (GRCm39) V531A probably damaging Het
Serhl A G 15: 82,985,843 (GRCm39) probably null Het
Sirpa T G 2: 129,472,075 (GRCm39) Y164D probably damaging Het
Slc12a3 T C 8: 95,069,741 (GRCm39) I550T possibly damaging Het
Slc22a14 T C 9: 119,049,835 (GRCm39) probably null Het
Slfn5 A G 11: 82,851,241 (GRCm39) N513D probably damaging Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Swap70 T C 7: 109,855,027 (GRCm39) L109P probably benign Het
Tas2r119 G A 15: 32,178,319 (GRCm39) C295Y probably damaging Het
Tcaf3 T A 6: 42,570,172 (GRCm39) I527L probably damaging Het
Traj31 A G 14: 54,425,387 (GRCm39) probably benign Het
Unc5a T A 13: 55,152,748 (GRCm39) D887E probably benign Het
Zfp407 T A 18: 84,450,536 (GRCm39) H1600L probably damaging Het
Other mutations in Hoxc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Hoxc8 APN 15 102,901,025 (GRCm39) missense probably damaging 1.00
IGL02458:Hoxc8 APN 15 102,901,181 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AACCAGACTGGGGTTCTGTTC -3'
(R):5'- GCAAATGACAGTCGTAAACTTCTC -3'

Sequencing Primer
(F):5'- TCTGTTCAGCTCCTGGGCG -3'
(R):5'- CCCAGGCAGTTTATCCT -3'
Posted On 2018-06-06