Incidental Mutation 'IGL02717:Hoxc4'
ID 304809
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: 0.710) question?
Stock # IGL02717
Quality Score
Status
Chromosome 15
Chromosomal Location 102927366-102945278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102943273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 42 (E42G)
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: E42G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097740
Gene: ENSMUSG00000075394
AA Change: E42G

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 possibly damaging
Transcript: ENSMUST00000165375
AA Change: E42G

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133561
Gene: ENSMUSG00000075394
AA Change: E42G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 G A 14: 54,499,079 (GRCm39) probably benign Het
Adgra1 A T 7: 139,456,094 (GRCm39) N574I probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Ahnak A G 19: 8,979,751 (GRCm39) D345G probably benign Het
Alpk1 T A 3: 127,474,749 (GRCm39) H418L possibly damaging Het
B4gat1 C A 19: 5,088,997 (GRCm39) probably benign Het
Cdh18 A T 15: 23,410,801 (GRCm39) R429* probably null Het
Chd1l T C 3: 97,491,223 (GRCm39) N423S probably damaging Het
Eef1a2 A C 2: 180,794,694 (GRCm39) D168E probably benign Het
Eif4g2 A G 7: 110,677,320 (GRCm39) I205T probably benign Het
Fam227b T C 2: 125,845,763 (GRCm39) I409V probably null Het
Fsip2 A G 2: 82,781,370 (GRCm39) probably benign Het
Hadh T C 3: 131,043,559 (GRCm39) T52A probably benign Het
Herc1 T A 9: 66,279,203 (GRCm39) L37* probably null Het
Ifna16 T C 4: 88,594,777 (GRCm39) D106G possibly damaging Het
Iqgap3 C A 3: 88,005,666 (GRCm39) T498K probably benign Het
Kmt2b G A 7: 30,282,869 (GRCm39) T1031M probably damaging Het
Or11j4 G T 14: 50,631,104 (GRCm39) R297L probably damaging Het
Or5g23 A T 2: 85,439,116 (GRCm39) I46N probably damaging Het
Pilrb1 G A 5: 137,856,213 (GRCm39) probably benign Het
Polq T A 16: 36,843,102 (GRCm39) V212E probably damaging Het
Ppp4r3b A G 11: 29,123,315 (GRCm39) T4A probably benign Het
Saxo5 C T 8: 3,536,970 (GRCm39) R439C probably damaging Het
Scn5a T A 9: 119,358,076 (GRCm39) T722S probably benign Het
Slc7a4 C T 16: 17,392,439 (GRCm39) V332I possibly damaging Het
Taar7b T C 10: 23,876,258 (GRCm39) I141T probably damaging Het
Wrn T C 8: 33,833,601 (GRCm39) Y104C probably damaging Het
Other mutations in Hoxc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Hoxc4 APN 15 102,944,264 (GRCm39) missense probably damaging 0.99
IGL02733:Hoxc4 APN 15 102,943,152 (GRCm39) missense probably benign 0.06
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