Incidental Mutation 'IGL01401:Hoxc12'
ID 79652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc12
Ensembl Gene ENSMUSG00000050328
Gene Name homeobox C12
Synonyms Hox-3.8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01401
Quality Score
Status
Chromosome 15
Chromosomal Location 102845261-102847044 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102845755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 156 (H156Q)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
AlphaFold Q8K5B8
Predicted Effect probably benign
Transcript: ENSMUST00000055562
AA Change: H156Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: H156Q

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
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,836,516 (GRCm39) V758A possibly damaging Het
Arf4 T C 14: 26,359,609 (GRCm39) L12P probably damaging Het
Bltp1 A G 3: 36,996,441 (GRCm39) N1051S probably benign Het
C4bp A T 1: 130,575,801 (GRCm39) V230E possibly damaging Het
Carm1 T A 9: 21,480,878 (GRCm39) probably null Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Ceacam16 T C 7: 19,595,054 (GRCm39) Y8C probably benign Het
Ckap2l A T 2: 129,111,136 (GRCm39) V687E probably damaging Het
Dcaf4 A G 12: 83,588,148 (GRCm39) D449G probably damaging Het
Dhx38 T C 8: 110,278,746 (GRCm39) Y1113C probably benign Het
Fry A G 5: 150,362,253 (GRCm39) I161V probably benign Het
Gm17093 A C 14: 44,758,984 (GRCm39) M169L unknown Het
Gm20721 A G 2: 174,187,295 (GRCm39) D999G probably damaging Het
Grin2b T C 6: 135,713,361 (GRCm39) H840R probably damaging Het
Htr3b T C 9: 48,858,934 (GRCm39) D68G probably damaging Het
Inpp5b T C 4: 124,639,880 (GRCm39) V99A probably damaging Het
Klhl42 C T 6: 147,009,241 (GRCm39) T360M probably benign Het
Lmo7 C T 14: 102,031,713 (GRCm39) R36* probably null Het
Lmod3 T G 6: 97,229,513 (GRCm39) N7T probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mthfd2l T A 5: 91,148,425 (GRCm39) I284K possibly damaging Het
Myo1e T A 9: 70,234,448 (GRCm39) I267N probably damaging Het
Or13c7d T C 4: 43,770,112 (GRCm39) R300G probably damaging Het
Or2y1g T A 11: 49,171,314 (GRCm39) V113E possibly damaging Het
Prkce T C 17: 86,476,268 (GRCm39) V83A probably damaging Het
Pxdn G T 12: 30,051,983 (GRCm39) C540F probably damaging Het
Resf1 A G 6: 149,228,394 (GRCm39) E480G probably damaging Het
Ryr2 T A 13: 11,606,238 (GRCm39) E4448V possibly damaging Het
Scn1a A T 2: 66,119,455 (GRCm39) N1349K probably damaging Het
Smarcc1 T C 9: 109,979,033 (GRCm39) I172T possibly damaging Het
Syt16 T C 12: 74,269,437 (GRCm39) V92A possibly damaging Het
Tenm4 A G 7: 96,523,474 (GRCm39) Y1672C probably damaging Het
Tmem131 A G 1: 36,838,468 (GRCm39) Y1486H probably damaging Het
Tmem132a A G 19: 10,838,888 (GRCm39) probably benign Het
Usp40 A T 1: 87,921,920 (GRCm39) D314E probably damaging Het
Vmn2r79 G A 7: 86,686,481 (GRCm39) V621I probably benign Het
Wnk4 A G 11: 101,167,509 (GRCm39) probably benign Het
Wwc1 C A 11: 35,789,445 (GRCm39) probably null Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3748:Hoxc12 UTSW 15 102,846,813 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-05