Incidental Mutation 'IGL02563:Hoxc13'
ID 298730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02563
Quality Score
Status
Chromosome 15
Chromosomal Location 102829566-102837249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102830233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 204 (D204G)
Ref Sequence ENSEMBL: ENSMUSP00000001700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001700]
AlphaFold P50207
Predicted Effect possibly damaging
Transcript: ENSMUST00000001700
AA Change: D204G

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: D204G

DomainStartEndE-ValueType
low complexity region 22 50 N/A INTRINSIC
Pfam:HoxA13_N 52 166 1.7e-38 PFAM
HOX 258 320 6.12e-22 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. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit alopecia due to brittle hair, poor growth, abnormalities of caudal vertebrae, nails, and tongue filiform papillae, and lethality in the second week. Rare survivors recover, but lack hair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,410 (GRCm39) V97E probably damaging Het
Abhd16a C T 17: 35,320,221 (GRCm39) T362M probably damaging Het
Adam23 T G 1: 63,607,136 (GRCm39) probably benign Het
Apeh C A 9: 107,970,908 (GRCm39) R87L possibly damaging Het
Arid3a T A 10: 79,786,717 (GRCm39) M490K probably damaging Het
Atp6v1b1 T A 6: 83,732,433 (GRCm39) V251D probably benign Het
Cog8 C T 8: 107,783,055 (GRCm39) R78Q possibly damaging Het
Cyld T C 8: 89,462,522 (GRCm39) I701T probably damaging Het
Dmgdh A G 13: 93,811,047 (GRCm39) probably benign Het
Dnm1 T C 2: 32,205,931 (GRCm39) probably null Het
Dop1b T A 16: 93,574,293 (GRCm39) V2D probably damaging Het
Dusp22 A T 13: 30,889,628 (GRCm39) S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 (GRCm39) Q3415R possibly damaging Het
Dysf T C 6: 84,163,498 (GRCm39) probably benign Het
Fam114a1 G A 5: 65,163,491 (GRCm39) probably null Het
Fam20a T A 11: 109,568,620 (GRCm39) Q302L possibly damaging Het
Fancm T A 12: 65,139,236 (GRCm39) L374H probably damaging Het
Fcgbpl1 G A 7: 27,857,317 (GRCm39) E2222K probably benign Het
Fgf17 G A 14: 70,874,178 (GRCm39) Q204* probably null Het
Gap43 T C 16: 42,112,495 (GRCm39) T89A probably benign Het
Gm5069 A G 1: 180,155,464 (GRCm39) probably benign Het
Gm9913 C T 2: 125,348,254 (GRCm39) probably benign Het
Gpr174 T C X: 106,336,854 (GRCm39) L222P probably benign Het
Grid2 A T 6: 64,322,857 (GRCm39) Q619L possibly damaging Het
Itgav T C 2: 83,601,580 (GRCm39) V317A probably benign Het
Keg1 A T 19: 12,696,521 (GRCm39) N288I probably damaging Het
Ksr1 C T 11: 78,935,684 (GRCm39) V234I possibly damaging Het
Lrp1 T A 10: 127,387,555 (GRCm39) D3365V probably damaging Het
Luc7l3 A T 11: 94,190,894 (GRCm39) probably null Het
Mta2 T C 19: 8,925,415 (GRCm39) I348T probably benign Het
Nphp4 A G 4: 152,640,677 (GRCm39) I1015V probably benign Het
Nup214 C T 2: 31,867,872 (GRCm39) S113F probably damaging Het
Or4f7 T C 2: 111,644,162 (GRCm39) K303R probably benign Het
Pabpn1l T A 8: 123,347,122 (GRCm39) T228S probably damaging Het
Paxx T C 2: 25,349,674 (GRCm39) *206W probably null Het
Pcdhb10 A G 18: 37,546,126 (GRCm39) T401A probably benign Het
Ppp1r3a A C 6: 14,719,761 (GRCm39) D384E probably benign Het
Rif1 T C 2: 51,967,077 (GRCm39) V122A probably damaging Het
Scn4b T C 9: 45,057,980 (GRCm39) L24P probably damaging Het
Sec22c T C 9: 121,513,716 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,289,207 (GRCm39) D676G probably damaging Het
Slc20a1 A G 2: 129,049,604 (GRCm39) T289A probably benign Het
Tekt2 T C 4: 126,218,418 (GRCm39) D84G possibly damaging Het
Tgfbr2 T A 9: 115,959,066 (GRCm39) N116I probably benign Het
Tmem196 A G 12: 119,910,209 (GRCm39) M1V probably null Het
Tnn A G 1: 159,942,123 (GRCm39) V1125A probably damaging Het
Vmn2r51 A T 7: 9,834,243 (GRCm39) M265K probably benign Het
Zfp319 T C 8: 96,050,362 (GRCm39) probably benign Het
Zfp65 A T 13: 67,856,184 (GRCm39) V365E possibly damaging Het
Zp3 T A 5: 136,016,464 (GRCm39) probably null Het
Other mutations in Hoxc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2125:Hoxc13 UTSW 15 102,835,658 (GRCm39) missense probably damaging 1.00
R3741:Hoxc13 UTSW 15 102,829,873 (GRCm39) missense possibly damaging 0.84
R3742:Hoxc13 UTSW 15 102,829,873 (GRCm39) missense possibly damaging 0.84
R3977:Hoxc13 UTSW 15 102,829,675 (GRCm39) missense possibly damaging 0.60
R3978:Hoxc13 UTSW 15 102,829,675 (GRCm39) missense possibly damaging 0.60
R6820:Hoxc13 UTSW 15 102,830,257 (GRCm39) missense probably damaging 1.00
R7127:Hoxc13 UTSW 15 102,829,903 (GRCm39) missense possibly damaging 0.87
R7719:Hoxc13 UTSW 15 102,830,293 (GRCm39) missense possibly damaging 0.77
R8204:Hoxc13 UTSW 15 102,835,795 (GRCm39) missense probably damaging 1.00
R9402:Hoxc13 UTSW 15 102,830,051 (GRCm39) nonsense probably null
Posted On 2015-04-16