Incidental Mutation 'R7327:Hoxc8'
ID 569017
Institutional Source Beutler Lab
Gene Symbol Hoxc8
Ensembl Gene ENSMUSG00000001657
Gene Name homeobox C8
Synonyms Hox-3.1, D130011F21Rik
MMRRC Submission 045420-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.742) question?
Stock # R7327 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102899039-102902543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102899542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 111 (Y111N)
Ref Sequence ENSEMBL: ENSMUSP00000001703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001703]
AlphaFold P09025
Predicted Effect probably damaging
Transcript: ENSMUST00000001703
AA Change: Y111N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001703
Gene: ENSMUSG00000001657
AA Change: Y111N

DomainStartEndE-ValueType
HOX 149 211 1.63e-26 SMART
coiled coil region 216 242 N/A INTRINSIC
Meta Mutation Damage Score 0.2534 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,367,430 (GRCm39) T3I probably benign Het
Ahi1 T A 10: 20,862,976 (GRCm39) V717E probably damaging Het
Anapc4 A G 5: 53,002,672 (GRCm39) T238A probably damaging Het
Arhgap27 A T 11: 103,251,367 (GRCm39) C120* probably null Het
Bdp1 A T 13: 100,178,040 (GRCm39) V1943D probably damaging Het
Cdc14b A G 13: 64,373,461 (GRCm39) V141A probably damaging Het
Cfap46 G T 7: 139,215,062 (GRCm39) probably null Het
Cgnl1 C A 9: 71,633,165 (GRCm39) R62L possibly damaging Het
Chaf1a A G 17: 56,369,573 (GRCm39) S522G probably benign Het
Cox19 A G 5: 139,328,402 (GRCm39) F37S probably damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Cyp4a12a A T 4: 115,184,756 (GRCm39) R346W probably damaging Het
Dip2a A C 10: 76,108,396 (GRCm39) C1315G probably benign Het
Dmxl2 A C 9: 54,308,869 (GRCm39) W1961G probably damaging Het
Dst T C 1: 34,240,486 (GRCm39) L1945P probably damaging Het
Efr3a A G 15: 65,691,627 (GRCm39) S92G probably damaging Het
Ep300 C T 15: 81,511,515 (GRCm39) T865I unknown Het
Ercc6 A G 14: 32,248,361 (GRCm39) E304G probably benign Het
Filip1l A C 16: 57,391,300 (GRCm39) E629D probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glb1 T C 9: 114,246,126 (GRCm39) F59S probably benign Het
Gli3 T C 13: 15,900,144 (GRCm39) L1177P probably benign Het
Gpatch2l A G 12: 86,303,646 (GRCm39) T223A probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hmcn1 A T 1: 150,479,565 (GRCm39) M4633K probably benign Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Iqcn T A 8: 71,169,453 (GRCm39) M1181K possibly damaging Het
Iqgap2 T A 13: 95,772,163 (GRCm39) M1339L probably benign Het
Kif21b A G 1: 136,087,387 (GRCm39) Q901R possibly damaging Het
Krtap4-8 C A 11: 99,671,234 (GRCm39) C79F unknown Het
Ldb3 T C 14: 34,293,759 (GRCm39) N155S probably damaging Het
Mad2l1 T A 6: 66,516,794 (GRCm39) V162E probably benign Het
Map7 T A 10: 20,109,208 (GRCm39) V87E unknown Het
Mndal A T 1: 173,703,185 (GRCm39) D73E unknown Het
Msantd1 T C 5: 35,075,039 (GRCm39) S34P probably damaging Het
Myh14 T C 7: 44,260,977 (GRCm39) Q1838R possibly damaging Het
Myh15 G T 16: 48,993,369 (GRCm39) R1668L possibly damaging Het
Ncoa7 A G 10: 30,565,796 (GRCm39) M666T probably damaging Het
Nol6 A T 4: 41,116,686 (GRCm39) L944Q probably benign Het
Or5h27 A T 16: 59,006,376 (GRCm39) F157I unknown Het
Orc1 A G 4: 108,445,911 (GRCm39) T10A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pglyrp2 C T 17: 32,634,893 (GRCm39) A490T probably benign Het
Pirb A T 7: 3,720,187 (GRCm39) C395* probably null Het
Ppp1r11 T C 17: 37,261,900 (GRCm39) R12G possibly damaging Het
Prlr A G 15: 10,346,524 (GRCm39) D290G probably benign Het
Ptpn21 G T 12: 98,646,360 (GRCm39) R1033S probably damaging Het
Rad54l2 A G 9: 106,570,660 (GRCm39) L1220P possibly damaging Het
Rufy3 G A 5: 88,790,811 (GRCm39) R504H probably damaging Het
Scgb2b21 C T 7: 33,219,330 (GRCm39) V25I probably benign Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slain2 A T 5: 73,132,002 (GRCm39) T498S probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc30a9 A T 5: 67,499,462 (GRCm39) I307F probably damaging Het
Snap91 C T 9: 86,655,598 (GRCm39) G800R unknown Het
Tnc G T 4: 63,882,999 (GRCm39) probably null Het
Trav21-dv12 T C 14: 54,113,514 (GRCm39) probably benign Het
Txk A T 5: 72,873,226 (GRCm39) I228N probably damaging Het
Vac14 T C 8: 111,438,252 (GRCm39) Y622H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr35 T G 12: 9,037,312 (GRCm39) M306R probably benign Het
Zan A T 5: 137,463,494 (GRCm39) S562T probably benign 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
R6521:Hoxc8 UTSW 15 102,901,135 (GRCm39) missense probably benign 0.19
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'- ACCACGTCCAAGACTTCTTC -3'
(R):5'- TTTCAATCTCCCAGGAACCC -3'

Sequencing Primer
(F):5'- AGACTTCTTCCACCACGGC -3'
(R):5'- GGAGAGACCCCCAAAGCCAG -3'
Posted On 2019-09-13