Incidental Mutation 'R6975:Hoxc4'
ID 542436
Institutional Source Beutler Lab
Gene Symbol Hoxc4
Ensembl Gene ENSMUSG00000075394
Gene Name homeobox C4
Synonyms Hox-3.5
MMRRC Submission 045085-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.710) question?
Stock # R6975 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102927366-102945278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102944098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 159 (S159P)
Ref Sequence ENSEMBL: ENSMUSP00000097740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100164] [ENSMUST00000165375]
AlphaFold Q08624
Predicted Effect probably damaging
Transcript: ENSMUST00000100164
AA Change: S159P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097740
Gene: ENSMUSG00000075394
AA Change: S159P

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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,687 (GRCm39) H100L probably benign Het
Apaf1 A T 10: 90,856,596 (GRCm39) H870Q probably damaging Het
Aplf T C 6: 87,623,068 (GRCm39) D358G probably damaging Het
Atp10a A T 7: 58,423,733 (GRCm39) S233C probably damaging Het
Ccdc158 A T 5: 92,814,579 (GRCm39) Y82* probably null Het
Clba1 C T 12: 112,773,217 (GRCm39) P70L possibly damaging Het
Cubn T C 2: 13,491,600 (GRCm39) D149G probably damaging Het
Cyp4f14 T C 17: 33,133,608 (GRCm39) T83A probably benign Het
Endog A G 2: 30,061,648 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,246 (GRCm39) E721G probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 A G 5: 115,751,518 (GRCm39) H2033R probably damaging Het
Gm12830 T C 4: 114,702,246 (GRCm39) M136T Het
Gm6871 T C 7: 41,196,202 (GRCm39) silent Het
Ift70a2 T C 2: 75,806,752 (GRCm39) R587G probably damaging Het
Ift70a2 A T 2: 75,808,004 (GRCm39) Y169* probably null Het
Igf2bp2 T A 16: 21,880,611 (GRCm39) Q494L probably null Het
Igfn1 T A 1: 135,896,183 (GRCm39) N1461I probably damaging Het
Il23r C A 6: 67,400,352 (GRCm39) K659N probably damaging Het
Map3k11 A G 19: 5,740,755 (GRCm39) S161G possibly damaging Het
Naip6 T A 13: 100,452,773 (GRCm39) Q96L probably damaging Het
Nup133 T C 8: 124,642,057 (GRCm39) E802G probably damaging Het
Nutm1 G A 2: 112,086,563 (GRCm39) S56F probably damaging Het
Or10x4 T A 1: 174,219,243 (GRCm39) S203T probably benign Het
Or51a24 T C 7: 103,734,002 (GRCm39) N95S probably benign Het
Otop2 A T 11: 115,220,152 (GRCm39) S331C possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkd1l3 A G 8: 110,387,539 (GRCm39) R1818G possibly damaging Het
Pms1 A T 1: 53,228,590 (GRCm39) I886N probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Ppp3ca A G 3: 136,611,062 (GRCm39) T362A probably damaging Het
Rarb A G 14: 16,574,942 (GRCm38) S25P possibly damaging Het
Rnf121 A T 7: 101,673,218 (GRCm39) probably null Het
Sae1 T C 7: 16,070,712 (GRCm39) Y266C probably damaging Het
Scpep1 A T 11: 88,838,031 (GRCm39) F85L probably damaging Het
Shank1 T A 7: 43,962,530 (GRCm39) probably null Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Sun2 G T 15: 79,618,420 (GRCm39) Y246* probably null Het
Tas1r2 T A 4: 139,397,031 (GRCm39) I790N probably damaging Het
Tmtc2 T C 10: 105,158,863 (GRCm39) T577A probably benign Het
Trim24 T G 6: 37,896,427 (GRCm39) probably null Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Zbtb22 A C 17: 34,136,938 (GRCm39) D361A probably damaging Het
Zfp276 T A 8: 123,983,570 (GRCm39) C324* probably null Het
Zfp536 A G 7: 37,267,952 (GRCm39) L488P probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGTTACAATGAGGATTCCCC -3'
(R):5'- AGTGGTCTTCAGAAGTGCCG -3'

Sequencing Primer
(F):5'- ATTACACTACAAAGTCTCTAGCTTCC -3'
(R):5'- GCGCTGACCTCACTTTGGTG -3'
Posted On 2018-11-28