Incidental Mutation 'R6784:Hoxc5'
ID 531580
Institutional Source Beutler Lab
Gene Symbol Hoxc5
Ensembl Gene ENSMUSG00000022485
Gene Name homeobox C5
Synonyms Hox-6.2, Hox-3.4
MMRRC Submission 044898-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R6784 (G1)
Quality Score 80.0075
Status Validated
Chromosome 15
Chromosomal Location 102922440-102925861 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 102922322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001709] [ENSMUST00000001711]
AlphaFold P32043
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
SMART Domains Protein: ENSMUSP00000001711
Gene: ENSMUSG00000001661

DomainStartEndE-ValueType
HOX 141 203 2.39e-24 SMART
low complexity region 221 235 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.2%
Validation Efficiency 98% (46/47)
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, HOXC5, is one of several homeobox 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. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,093,895 (GRCm39) S142N probably null Het
Aida A G 1: 183,103,346 (GRCm39) Y275C probably damaging Het
Arrdc4 A G 7: 68,398,594 (GRCm39) I74T probably benign Het
C1ql4 A G 15: 98,985,290 (GRCm39) V107A probably benign Het
Ccnh T C 13: 85,360,884 (GRCm39) V284A probably benign Het
Cd180 A G 13: 102,839,213 (GRCm39) E32G probably damaging Het
Chd6 T C 2: 160,808,174 (GRCm39) D1680G probably damaging Het
Cog7 A T 7: 121,563,516 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,423,741 (GRCm39) Q209L possibly damaging Het
Dars1 A T 1: 128,319,084 (GRCm39) V116E probably damaging Het
Dnah10 A G 5: 124,854,890 (GRCm39) K1932E probably damaging Het
Dock9 A G 14: 121,780,926 (GRCm39) S2086P probably damaging Het
Espl1 C G 15: 102,207,660 (GRCm39) R375G probably benign Het
Fer1l6 C T 15: 58,443,275 (GRCm39) S526L possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gigyf2 G T 1: 87,371,396 (GRCm39) V1170L probably damaging Het
Gm14412 G T 2: 177,009,133 (GRCm39) T41K probably benign Het
Gm45861 A G 8: 27,990,086 (GRCm39) probably null Het
H2bc4 T C 13: 23,868,483 (GRCm39) I90T probably damaging Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Klra1 T C 6: 130,349,817 (GRCm39) D207G probably benign Het
Lancl2 A G 6: 57,680,240 (GRCm39) N57D probably benign Het
Map2k4 T C 11: 65,582,577 (GRCm39) probably benign Het
Mgat3 G T 15: 80,096,401 (GRCm39) Q409H probably damaging Het
Mpp3 T A 11: 101,892,974 (GRCm39) probably null Het
Myh1 T A 11: 67,105,396 (GRCm39) L1062Q probably damaging Het
Nebl T A 2: 17,439,725 (GRCm39) K183* probably null Het
Npat G C 9: 53,469,458 (GRCm39) D315H probably damaging Het
Nt5c2 A G 19: 46,912,766 (GRCm39) V63A probably damaging Het
Opn1sw T A 6: 29,379,846 (GRCm39) E129D probably damaging Het
Or10ag2 C T 2: 87,248,796 (GRCm39) R135C probably benign Het
Or1e29 T G 11: 73,667,676 (GRCm39) H159P probably damaging Het
Or51t4 A T 7: 102,597,722 (GRCm39) T17S possibly damaging Het
Or5p1 A T 7: 107,916,989 (GRCm39) D296V probably damaging Het
Prdm16 T C 4: 154,407,764 (GRCm39) Y1153C probably damaging Het
Prdm6 T A 18: 53,669,698 (GRCm39) D105E probably benign Het
Pwwp4c C T X: 73,684,021 (GRCm39) R355H probably damaging Homo
Rbm27 T C 18: 42,434,929 (GRCm39) M331T probably benign Het
S1pr1 A G 3: 115,505,710 (GRCm39) Y295H probably damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Sla2 C T 2: 156,725,589 (GRCm39) S3N unknown Het
Slc10a6 A G 5: 103,776,896 (GRCm39) I68T probably damaging Het
Slc5a1 T C 5: 33,315,460 (GRCm39) F493S probably benign Het
Snx14 A T 9: 88,263,845 (GRCm39) Y847N probably benign Het
Tmc1 A G 19: 20,805,015 (GRCm39) probably null Het
Vps8 C A 16: 21,381,957 (GRCm39) Q1130K probably benign Het
Other mutations in Hoxc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03339:Hoxc5 APN 15 102,922,568 (GRCm39) missense probably damaging 0.98
R0386:Hoxc5 UTSW 15 102,923,784 (GRCm39) nonsense probably null
R1797:Hoxc5 UTSW 15 102,922,866 (GRCm39) missense probably benign 0.00
R2021:Hoxc5 UTSW 15 102,922,814 (GRCm39) splice site probably null
R4851:Hoxc5 UTSW 15 102,923,801 (GRCm39) missense probably damaging 1.00
R4967:Hoxc5 UTSW 15 102,923,786 (GRCm39) missense probably damaging 1.00
R5089:Hoxc5 UTSW 15 102,922,487 (GRCm39) unclassified probably benign
R6718:Hoxc5 UTSW 15 102,922,698 (GRCm39) splice site probably null
R6927:Hoxc5 UTSW 15 102,923,807 (GRCm39) missense probably damaging 1.00
R8982:Hoxc5 UTSW 15 102,923,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGATGAAATTCCTCCGAGTCG -3'
(R):5'- TTGGCTACGTAGGAGCTCATG -3'

Sequencing Primer
(F):5'- ACCAGGTGTCGCTGTGAG -3'
(R):5'- CTCATGGCGGGGAGGGC -3'
Posted On 2018-08-29