Incidental Mutation 'R7719:Hoxc13'
ID 595142
Institutional Source Beutler Lab
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
MMRRC Submission 045776-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7719 (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 T at 102830293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 224 (Q224L)
Ref Sequence ENSEMBL: ENSMUSP00000001700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001700]
AlphaFold P50207
Predicted Effect possibly damaging
Transcript: ENSMUST00000001700
AA Change: Q224L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: Q224L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (67/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T A 1: 155,562,758 (GRCm39) L253H probably damaging Het
Adam11 T C 11: 102,663,303 (GRCm39) V238A probably benign Het
Amer3 A T 1: 34,628,083 (GRCm39) H774L possibly damaging Het
Anapc15 T C 7: 101,550,236 (GRCm39) L150P unknown Het
Ano8 G T 8: 71,935,784 (GRCm39) T278K possibly damaging Het
Atg16l2 T C 7: 100,939,074 (GRCm39) K618E probably damaging Het
Casz1 C T 4: 149,028,981 (GRCm39) S1142L probably damaging Het
Ccdc30 T A 4: 119,190,813 (GRCm39) E471D probably damaging Het
Cks1b T C 3: 89,323,635 (GRCm39) N45D probably benign Het
Clasrp T C 7: 19,321,769 (GRCm39) T296A probably damaging Het
Cluap1 C T 16: 3,727,467 (GRCm39) probably null Het
Cntn5 T A 9: 9,704,903 (GRCm39) D632V probably damaging Het
Cntnap3 G A 13: 64,920,591 (GRCm39) Q593* probably null Het
Col18a1 A T 10: 76,913,846 (GRCm39) I457K probably benign Het
Crybb3 G T 5: 113,223,834 (GRCm39) Q192K probably damaging Het
Cyb561d2 C T 9: 107,417,383 (GRCm39) A123T probably benign Het
Cyp2b13 C T 7: 25,795,095 (GRCm39) A442V probably damaging Het
Cyp2j9 G A 4: 96,457,079 (GRCm39) T464I probably benign Het
Cyp4a29 G A 4: 115,108,137 (GRCm39) G320R possibly damaging Het
Dbp T C 7: 45,359,174 (GRCm39) I283T probably damaging Het
Efcab3 T C 11: 105,002,674 (GRCm39) I303T probably benign Het
Efcab8 T A 2: 153,629,665 (GRCm39) V166D Het
Efhc1 A T 1: 21,049,744 (GRCm39) I535F probably benign Het
Epb41l3 A G 17: 69,560,409 (GRCm39) I319V possibly damaging Het
Ewsr1 T C 11: 5,035,900 (GRCm39) T193A unknown Het
Fam227a T C 15: 79,504,913 (GRCm39) N510S possibly damaging Het
Frmpd1 T C 4: 45,284,841 (GRCm39) C1221R possibly damaging Het
Gm6741 A C 17: 91,544,472 (GRCm39) E78D probably benign Het
Gpam C T 19: 55,070,102 (GRCm39) V385I probably damaging Het
Gpr55 A G 1: 85,869,059 (GRCm39) V174A probably benign Het
Gsdmc T C 15: 63,650,813 (GRCm39) probably null Het
Hmcn1 T A 1: 150,441,080 (GRCm39) D5509V possibly damaging Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Igsf3 G A 3: 101,342,857 (GRCm39) R478H probably damaging Het
Itgb5 A G 16: 33,740,486 (GRCm39) Q532R probably benign Het
Jph1 T C 1: 17,162,215 (GRCm39) Y149C probably damaging Het
Lztfl1 T C 9: 123,544,395 (GRCm39) D33G probably null Het
Mex3c G T 18: 73,723,061 (GRCm39) A385S possibly damaging Het
Myo5a T A 9: 75,051,366 (GRCm39) S320T probably benign Het
Nsun4 A T 4: 115,909,617 (GRCm39) N314K possibly damaging Het
Omg T A 11: 79,393,059 (GRCm39) E266D probably benign Het
Or4b12 A T 2: 90,096,603 (GRCm39) M57K probably damaging Het
Paqr9 T A 9: 95,442,829 (GRCm39) V273E possibly damaging Het
Phkg1 G A 5: 129,902,699 (GRCm39) probably benign Het
Plekhm3 T C 1: 64,960,901 (GRCm39) K452E probably benign Het
Plpbp T A 8: 27,535,974 (GRCm39) I86N Het
Prl2c1 G T 13: 28,035,780 (GRCm39) A51S probably damaging Het
Prmt8 A T 6: 127,706,466 (GRCm39) H108Q probably damaging Het
Prrc2b T A 2: 32,107,280 (GRCm39) C1614* probably null Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Rassf9 A G 10: 102,381,461 (GRCm39) D281G probably benign Het
Resf1 T C 6: 149,228,853 (GRCm39) I633T probably benign Het
Rmnd1 T C 10: 4,377,496 (GRCm39) D61G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Ryr2 A G 13: 11,745,229 (GRCm39) S2055P possibly damaging Het
Six5 G A 7: 18,830,803 (GRCm39) A477T probably damaging Het
Speg A G 1: 75,352,469 (GRCm39) E129G probably damaging Het
Stard10 C T 7: 100,995,320 (GRCm39) A78V not run Het
Stard3 T C 11: 98,266,502 (GRCm39) V127A probably benign Het
Svep1 G A 4: 58,068,523 (GRCm39) P3088S probably damaging Het
Tbck A G 3: 132,440,489 (GRCm39) D508G probably damaging Het
Tgm2 T A 2: 157,985,038 (GRCm39) T23S probably damaging Het
Ttll10 G T 4: 156,131,665 (GRCm39) probably null Het
Vcan A T 13: 89,852,738 (GRCm39) S741T probably damaging Het
Vmn2r13 T C 5: 109,319,618 (GRCm39) N454S probably benign Het
Vmn2r45 T A 7: 8,486,460 (GRCm39) E276V probably damaging Het
Wnt8a T C 18: 34,680,588 (GRCm39) W318R probably damaging Het
Zer1 A T 2: 30,001,243 (GRCm39) L87H probably damaging Het
Zfp518a T A 19: 40,901,212 (GRCm39) N380K probably benign Het
Zfp90 T C 8: 107,145,725 (GRCm39) V19A probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging 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
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
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'- GCTAAGGAGTTCGCCTTCTAC -3'
(R):5'- AGCGCATTCCTCAGCATAGC -3'

Sequencing Primer
(F):5'- GGAGTTCGCCTTCTACCCCAG -3'
(R):5'- ATCGACAGCCTAGCCGAG -3'
Posted On 2019-11-12