Incidental Mutation 'R6718:Hoxc5'
ID 529474
Institutional Source Beutler Lab
Gene Symbol Hoxc5
Ensembl Gene ENSMUSG00000022485
Gene Name homeobox C5
Synonyms Hox-6.2, Hox-3.4
MMRRC Submission 044836-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R6718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 102922440-102925861 bp(+) (GRCm39)
Type of Mutation splice site (2385 bp from exon)
DNA Base Change (assembly) A to G at 102922698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001709] [ENSMUST00000001711] [ENSMUST00000165375]
AlphaFold P32043
Predicted Effect probably benign
Transcript: ENSMUST00000001709
AA Change: D62G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000001709
Gene: ENSMUSG00000022485
AA Change: D62G

DomainStartEndE-ValueType
low complexity region 69 85 N/A INTRINSIC
HOX 155 217 3.03e-26 SMART
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102056
Predicted Effect probably benign
Transcript: ENSMUST00000165375
SMART Domains Protein: ENSMUSP00000133561
Gene: ENSMUSG00000075394

DomainStartEndE-ValueType
low complexity region 46 68 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174869
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
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, 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,554,346 (GRCm39) T452I probably damaging Het
Asb8 A G 15: 98,034,015 (GRCm39) I180T probably benign Het
Cdh18 A G 15: 23,226,835 (GRCm39) T45A probably benign Het
Col12a1 T A 9: 79,606,887 (GRCm39) Y512F probably damaging Het
Col6a1 A G 10: 76,560,884 (GRCm39) F38S probably damaging Het
Kmt2d TATGCTGCTG TATGCTGCTGATGCTGCTG 15: 98,747,467 (GRCm39) probably benign Het
Kmt2d C T 15: 98,748,420 (GRCm39) probably benign Het
Lrp2 G T 2: 69,314,124 (GRCm39) H2202Q probably benign Het
Maf C A 8: 116,433,539 (GRCm39) V22F unknown Het
Mrgpra3 C T 7: 47,239,444 (GRCm39) V161M probably benign Het
Or7g33 G T 9: 19,448,495 (GRCm39) H244N probably damaging Het
Otx1 T C 11: 21,946,412 (GRCm39) probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pex11a A G 7: 79,387,230 (GRCm39) F201L probably benign Het
Pigu A G 2: 155,143,206 (GRCm39) Y232H possibly damaging Het
Pms2 T C 5: 143,860,307 (GRCm39) I40T probably damaging Het
Pura A G 18: 36,420,696 (GRCm39) N161S probably damaging Het
Ranbp10 A G 8: 106,501,260 (GRCm39) V330A possibly damaging Het
Slc30a9 T C 5: 67,490,443 (GRCm39) V218A probably damaging Het
Spindoc C T 19: 7,335,781 (GRCm39) V336I probably damaging Het
Tmprss9 A G 10: 80,726,198 (GRCm39) T483A 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
R6784:Hoxc5 UTSW 15 102,922,322 (GRCm39) unclassified probably benign
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'- GAGCTCCTACGTAGCCAATTC -3'
(R):5'- TGGTCATCCACGGGTAAATCTG -3'

Sequencing Primer
(F):5'- GCCAATTCATTCTATAAGCAGAGC -3'
(R):5'- CACGGGTAAATCTGTGGCG -3'
Posted On 2018-08-01