Incidental Mutation 'IGL01401:Hoxc12'
ID79652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc12
Ensembl Gene ENSMUSG00000050328
Gene Namehomeobox C12
SynonymsHox-3.8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01401
Quality Score
Status
Chromosome15
Chromosomal Location102936757-102938609 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 102937320 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 156 (H156Q)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
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
2810474O19Rik A G 6: 149,326,896 E480G probably damaging Het
4932438A13Rik A G 3: 36,942,292 N1051S probably benign Het
Adgrl3 T C 5: 81,688,669 V758A possibly damaging Het
Arf4 T C 14: 26,638,454 L12P probably damaging Het
C4bp A T 1: 130,648,064 V230E possibly damaging Het
Carm1 T A 9: 21,569,582 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Ceacam16 T C 7: 19,861,129 Y8C probably benign Het
Ckap2l A T 2: 129,269,216 V687E probably damaging Het
Dcaf4 A G 12: 83,541,374 D449G probably damaging Het
Dhx38 T C 8: 109,552,114 Y1113C probably benign Het
Fry A G 5: 150,438,788 I161V probably benign Het
Gm17093 A C 14: 44,521,527 M169L unknown Het
Gm20721 A G 2: 174,345,502 D999G probably damaging Het
Grin2b T C 6: 135,736,363 H840R probably damaging Het
Htr3b T C 9: 48,947,634 D68G probably damaging Het
Inpp5b T C 4: 124,746,087 V99A probably damaging Het
Klhl42 C T 6: 147,107,743 T360M probably benign Het
Lmo7 C T 14: 101,794,277 R36* probably null Het
Lmod3 T G 6: 97,252,552 N7T probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mthfd2l T A 5: 91,000,566 I284K possibly damaging Het
Myo1e T A 9: 70,327,166 I267N probably damaging Het
Olfr1393 T A 11: 49,280,487 V113E possibly damaging Het
Olfr159 T C 4: 43,770,112 R300G probably damaging Het
Prkce T C 17: 86,168,840 V83A probably damaging Het
Pxdn G T 12: 30,001,984 C540F probably damaging Het
Ryr2 T A 13: 11,591,352 E4448V possibly damaging Het
Scn1a A T 2: 66,289,111 N1349K probably damaging Het
Smarcc1 T C 9: 110,149,965 I172T possibly damaging Het
Syt16 T C 12: 74,222,663 V92A possibly damaging Het
Tenm4 A G 7: 96,874,267 Y1672C probably damaging Het
Tmem131 A G 1: 36,799,387 Y1486H probably damaging Het
Tmem132a A G 19: 10,861,524 probably benign Het
Usp40 A T 1: 87,994,198 D314E probably damaging Het
Vmn2r79 G A 7: 87,037,273 V621I probably benign Het
Wnk4 A G 11: 101,276,683 probably benign Het
Wwc1 C A 11: 35,898,618 probably null Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Hoxc12 APN 15 102936864 missense probably damaging 1.00
PIT4531001:Hoxc12 UTSW 15 102938420 missense probably damaging 1.00
R0724:Hoxc12 UTSW 15 102937055 missense probably damaging 0.99
R3748:Hoxc12 UTSW 15 102938378 missense probably damaging 1.00
R4448:Hoxc12 UTSW 15 102938476 missense probably damaging 1.00
R5151:Hoxc12 UTSW 15 102938446 missense probably damaging 1.00
R6376:Hoxc12 UTSW 15 102937089 missense possibly damaging 0.77
R7034:Hoxc12 UTSW 15 102938360 missense probably damaging 0.99
R7036:Hoxc12 UTSW 15 102938360 missense probably damaging 0.99
R7096:Hoxc12 UTSW 15 102937038 missense possibly damaging 0.79
R7295:Hoxc12 UTSW 15 102938375 missense probably damaging 0.97
X0028:Hoxc12 UTSW 15 102937458 critical splice donor site probably null
Posted On2013-11-05