Incidental Mutation 'R6820:Hoxc13'
ID 537589
Institutional Source Beutler Lab
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6820 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102829566-102837249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102830257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 212 (Y212C)
Ref Sequence ENSEMBL: ENSMUSP00000001700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001700]
AlphaFold P50207
Predicted Effect probably damaging
Transcript: ENSMUST00000001700
AA Change: Y212C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: Y212C

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
Meta Mutation Damage Score 0.5929 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,673,266 (GRCm39) N141Y probably null Het
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Fbxw28 A T 9: 109,167,493 (GRCm39) F88Y probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak1 A G 7: 97,535,586 (GRCm39) N226D probably benign Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Wipi2 G C 5: 142,615,555 (GRCm39) Q14H probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null Het
Other mutations in Hoxc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02563:Hoxc13 APN 15 102,830,233 (GRCm39) missense possibly damaging 0.76
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
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
Predicted Primers PCR Primer
(F):5'- ACGTGAACCTGCAGCAGAAG -3'
(R):5'- ATTCCTCAGCATAGCTCGC -3'

Sequencing Primer
(F):5'- TACCATCCGGGGGACAAGTAC -3'
(R):5'- ATCGACAGCCTAGCCGAG -3'
Posted On 2018-10-18