Incidental Mutation 'IGL01978:Hoxc12'
ID 181785
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 # IGL01978
Quality Score
Status
Chromosome 15
Chromosomal Location 102845261-102847044 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102845299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 4 (H4Q)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
AlphaFold Q8K5B8
Predicted Effect probably damaging
Transcript: ENSMUST00000055562
AA Change: H4Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: H4Q

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Acot5 T C 12: 84,122,172 (GRCm39) V252A possibly damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Dsc3 C T 18: 20,107,253 (GRCm39) R456Q possibly damaging Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rhoh T A 5: 66,050,031 (GRCm39) S100R probably benign Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Trh G A 6: 92,219,596 (GRCm39) A240V probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Hoxc12 APN 15 102,845,755 (GRCm39) missense probably benign
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 2014-05-07