Incidental Mutation 'IGL03339:Hoxc5'
ID 417154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc5
Ensembl Gene ENSMUSG00000022485
Gene Name homeobox C5
Synonyms Hox-6.2, Hox-3.4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # IGL03339
Quality Score
Status
Chromosome 15
Chromosomal Location 102922440-102925861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102922568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 19 (Y19H)
Ref Sequence ENSEMBL: ENSMUSP00000001709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001709] [ENSMUST00000001711] [ENSMUST00000165375]
AlphaFold P32043
Predicted Effect probably damaging
Transcript: ENSMUST00000001709
AA Change: Y19H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001709
Gene: ENSMUSG00000022485
AA Change: Y19H

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
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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Hoxc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02