Incidental Mutation 'R3748:Hoxc12'
ID 309946
Institutional Source Beutler Lab
Gene Symbol Hoxc12
Ensembl Gene ENSMUSG00000050328
Gene Name homeobox C12
Synonyms Hox-3.8
MMRRC Submission 040733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3748 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 102845261-102847044 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102846813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
AlphaFold Q8K5B8
Predicted Effect probably damaging
Transcript: ENSMUST00000055562
AA Change: E235G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: E235G

DomainStartEndE-ValueType
low complexity region 101 129 N/A INTRINSIC
low complexity region 144 173 N/A INTRINSIC
HOX 212 274 1.05e-20 SMART
Meta Mutation Damage Score 0.2957 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (36/36)
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 is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,422 (GRCm39) probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca13 T C 11: 9,266,119 (GRCm39) probably benign Het
Acaca A G 11: 84,202,235 (GRCm39) probably null Het
Adam2 C T 14: 66,297,361 (GRCm39) V182I probably benign Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Cfap68 A G 9: 50,677,050 (GRCm39) C14R probably benign Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cmss1 T C 16: 57,122,635 (GRCm39) E253G probably damaging Het
Csmd1 T G 8: 15,956,071 (GRCm39) N3379H probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Daam1 C A 12: 72,017,940 (GRCm39) D716E probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Golgb1 G C 16: 36,739,274 (GRCm39) D2538H probably benign Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mfsd4b4 A G 10: 39,770,132 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nrp1 T C 8: 129,184,461 (GRCm39) W369R probably damaging Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Or13a19 T C 7: 139,903,041 (GRCm39) L143P possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Tdh T C 14: 63,733,442 (GRCm39) T149A probably benign Het
Tnip3 C T 6: 65,591,747 (GRCm39) L249F probably damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vmn2r27 T C 6: 124,207,351 (GRCm39) I97V probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Hoxc12 APN 15 102,845,755 (GRCm39) missense probably benign
IGL01978:Hoxc12 APN 15 102,845,299 (GRCm39) missense probably damaging 1.00
PIT4531001:Hoxc12 UTSW 15 102,846,855 (GRCm39) missense probably damaging 1.00
R0724:Hoxc12 UTSW 15 102,845,490 (GRCm39) missense probably damaging 0.99
R4448:Hoxc12 UTSW 15 102,846,911 (GRCm39) missense probably damaging 1.00
R5151:Hoxc12 UTSW 15 102,846,881 (GRCm39) missense probably damaging 1.00
R6376:Hoxc12 UTSW 15 102,845,524 (GRCm39) missense possibly damaging 0.77
R7034:Hoxc12 UTSW 15 102,846,795 (GRCm39) missense probably damaging 0.99
R7036:Hoxc12 UTSW 15 102,846,795 (GRCm39) missense probably damaging 0.99
R7096:Hoxc12 UTSW 15 102,845,473 (GRCm39) missense possibly damaging 0.79
R7295:Hoxc12 UTSW 15 102,846,810 (GRCm39) missense probably damaging 0.97
R8789:Hoxc12 UTSW 15 102,846,732 (GRCm39) missense probably benign 0.00
X0028:Hoxc12 UTSW 15 102,845,893 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AACATTTTCAGGATGAGAAGCG -3'
(R):5'- ACCAAGGCAAGCTTAGTCTGG -3'

Sequencing Primer
(F):5'- CATTTTCAGGATGAGAAGCGAAAGG -3'
(R):5'- AAGCTTAGTCTGGGGCTAGCAC -3'
Posted On 2015-04-17