Incidental Mutation 'IGL02733:Hoxc4'
ID 305551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc4
Ensembl Gene ENSMUSG00000075394
Gene Name homeobox C4
Synonyms Hox-3.5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # IGL02733
Quality Score
Status
Chromosome 15
Chromosomal Location 102927366-102945278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102943152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 2 (I2V)
Ref Sequence ENSEMBL: ENSMUSP00000133561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100164] [ENSMUST00000165375]
AlphaFold Q08624
Predicted Effect probably benign
Transcript: ENSMUST00000100164
AA Change: I2V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097740
Gene: ENSMUSG00000075394
AA Change: I2V

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
HOX 156 218 1.87e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165375
AA Change: I2V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133561
Gene: ENSMUSG00000075394
AA Change: I2V

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
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, HOXC4, 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 that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some postnatal lethality (in the case of one allele but no the other), transformations of thoracic vertebrae, and abnormal rib attachment and sternebra morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 (GRCm39) T245S probably benign Het
Agl T C 3: 116,574,646 (GRCm39) I718V probably benign Het
Cbs T A 17: 31,844,005 (GRCm39) N209Y probably benign Het
Cd163 T C 6: 124,302,300 (GRCm39) C955R probably damaging Het
Dnajb3 A G 1: 88,132,662 (GRCm39) probably benign Het
Dop1b G A 16: 93,536,079 (GRCm39) R59Q possibly damaging Het
Dtx1 A G 5: 120,819,500 (GRCm39) L566P probably damaging Het
Fgf14 G T 14: 124,221,213 (GRCm39) P197Q probably damaging Het
Gask1a A G 9: 121,794,094 (GRCm39) R83G probably benign Het
Gcc1 G A 6: 28,420,661 (GRCm39) Q66* probably null Het
Gypc T C 18: 32,692,879 (GRCm39) probably benign Het
Helz2 G A 2: 180,876,819 (GRCm39) A1225V probably benign Het
Herc1 A G 9: 66,358,274 (GRCm39) T2452A probably benign Het
Impa1 A G 3: 10,394,025 (GRCm39) I14T probably benign Het
Itih1 T A 14: 30,658,677 (GRCm39) D400V probably damaging Het
Lama3 T C 18: 12,711,184 (GRCm39) Y3206H probably damaging Het
Lce1k T A 3: 92,714,192 (GRCm39) probably benign Het
Mcpt4 C T 14: 56,298,124 (GRCm39) M142I probably benign Het
Myo15b A G 11: 115,775,076 (GRCm39) E2168G probably benign Het
Myom3 G T 4: 135,541,614 (GRCm39) E1402* probably null Het
Nfyb G T 10: 82,590,867 (GRCm39) Q55K probably damaging Het
Nobox T C 6: 43,284,136 (GRCm39) K137E possibly damaging Het
Pnlip T A 19: 58,669,220 (GRCm39) D406E probably benign Het
Pole A T 5: 110,460,594 (GRCm39) probably benign Het
Ppp2r2b T C 18: 42,781,793 (GRCm39) Y336C possibly damaging Het
Prkg1 T C 19: 31,279,701 (GRCm39) T178A probably damaging Het
Prr11 C T 11: 86,994,371 (GRCm39) A92T possibly damaging Het
Racgap1 G T 15: 99,537,585 (GRCm39) S67R probably damaging Het
Scn10a G A 9: 119,445,771 (GRCm39) P1462S probably damaging Het
Sptbn1 T C 11: 30,147,747 (GRCm39) E29G probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Vmn2r72 T A 7: 85,401,021 (GRCm39) T133S probably benign Het
Zbtb20 A G 16: 43,430,296 (GRCm39) H269R possibly damaging Het
Zwilch A T 9: 64,054,118 (GRCm39) N526K probably benign Het
Other mutations in Hoxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Hoxc4 APN 15 102,944,264 (GRCm39) missense probably damaging 0.99
IGL02717:Hoxc4 APN 15 102,943,273 (GRCm39) missense possibly damaging 0.55
R1996:Hoxc4 UTSW 15 102,944,183 (GRCm39) missense probably damaging 0.98
R6520:Hoxc4 UTSW 15 102,943,380 (GRCm39) missense probably benign
R6975:Hoxc4 UTSW 15 102,944,098 (GRCm39) missense probably damaging 0.99
R8259:Hoxc4 UTSW 15 102,943,165 (GRCm39) missense probably damaging 0.99
R8348:Hoxc4 UTSW 15 102,943,440 (GRCm39) missense possibly damaging 0.92
R9576:Hoxc4 UTSW 15 102,944,384 (GRCm39) missense probably benign 0.01
Z1088:Hoxc4 UTSW 15 102,943,189 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16