Incidental Mutation 'IGL02733:Hoxc4'
ID305551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc4
Ensembl Gene ENSMUSG00000075394
Gene Namehomeobox C4
SynonymsHox-3.5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.646) question?
Stock #IGL02733
Quality Score
Status
Chromosome15
Chromosomal Location103018934-103036852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103034726 bp
ZygosityHeterozygous
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]
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 T245S probably benign Het
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gcc1 G A 6: 28,420,662 Q66* probably null Het
Gypc T C 18: 32,559,826 probably benign Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nfyb G T 10: 82,755,033 Q55K probably damaging Het
Nobox T C 6: 43,307,202 K137E possibly damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign Het
Other mutations in Hoxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Hoxc4 APN 15 103035838 missense probably damaging 0.99
IGL02717:Hoxc4 APN 15 103034847 missense possibly damaging 0.55
R1996:Hoxc4 UTSW 15 103035757 missense probably damaging 0.98
R6520:Hoxc4 UTSW 15 103034954 missense probably benign
R6975:Hoxc4 UTSW 15 103035672 missense probably damaging 0.99
Z1088:Hoxc4 UTSW 15 103034763 missense probably damaging 1.00
Posted On2015-04-16