Incidental Mutation 'R3977:Hoxc13'
ID 311092
Institutional Source Beutler Lab
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
MMRRC Submission 040940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3977 (G1)
Quality Score 113
Status Validated
Chromosome 15
Chromosomal Location 102829566-102837249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102829675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 18 (V18A)
Ref Sequence ENSEMBL: ENSMUSP00000001700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001700]
AlphaFold P50207
Predicted Effect possibly damaging
Transcript: ENSMUST00000001700
AA Change: V18A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: V18A

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 0.0713 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 96% (50/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace C T 11: 105,872,664 (GRCm39) P942L possibly damaging Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Brpf3 A G 17: 29,026,016 (GRCm39) E363G possibly damaging Het
Ccdc96 T C 5: 36,642,510 (GRCm39) L172P possibly damaging Het
Cln3 G A 7: 126,179,308 (GRCm39) probably benign Het
Dnah7c T C 1: 46,668,071 (GRCm39) I1526T possibly damaging Het
Entr1 T A 2: 26,274,805 (GRCm39) N364I probably damaging Het
Fmo3 T G 1: 162,786,147 (GRCm39) E281A probably damaging Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gbp2b A G 3: 142,309,470 (GRCm39) I194V probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hk1 A G 10: 62,126,098 (GRCm39) V396A probably benign Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il19 A T 1: 130,863,770 (GRCm39) C74S probably damaging Het
Krt1c T C 15: 101,719,562 (GRCm39) T703A unknown Het
Lrig2 A T 3: 104,365,160 (GRCm39) V664E probably damaging Het
Lrrc37a T C 11: 103,348,430 (GRCm39) K2755R unknown Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mbtd1 A G 11: 93,796,001 (GRCm39) N13D probably benign Het
Mfsd4b5 T C 10: 39,850,704 (GRCm39) probably benign Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Ogfod2 C A 5: 124,251,272 (GRCm39) probably null Het
Or10q3 C A 19: 11,847,869 (GRCm39) R237L possibly damaging Het
Or10v1 T A 19: 11,873,880 (GRCm39) F165Y probably damaging Het
Or11a4 T C 17: 37,536,049 (GRCm39) V11A probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4c3 C A 2: 89,852,089 (GRCm39) G107V probably damaging Het
Or6c5 C T 10: 129,074,377 (GRCm39) R120C probably damaging Het
Pkmyt1 A G 17: 23,954,305 (GRCm39) M362V probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1r12b A G 1: 134,693,713 (GRCm39) S983P probably benign Het
Ptpn22 A G 3: 103,780,957 (GRCm39) probably benign Het
Raph1 A T 1: 60,537,682 (GRCm39) D491E probably benign Het
Rc3h1 A G 1: 160,786,969 (GRCm39) probably null Het
Rtn4 T C 11: 29,643,819 (GRCm39) L5P probably benign Het
Slc23a4 C T 6: 34,930,723 (GRCm39) V400I probably benign Het
Slco1a5 A G 6: 142,204,698 (GRCm39) probably benign Het
Smpd1 T C 7: 105,205,108 (GRCm39) F329S probably benign Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Ten1 G A 11: 116,107,771 (GRCm39) probably null Het
Tfap2d C G 1: 19,174,718 (GRCm39) S57C possibly damaging Het
Tnr A G 1: 159,719,593 (GRCm39) M957V probably benign Het
Trbv13-3 A G 6: 41,107,079 (GRCm39) probably benign Het
Trp53rkb C T 2: 166,637,446 (GRCm39) A134V possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r74 T C 7: 85,607,345 (GRCm39) Y126C probably benign Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N 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
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
Predicted Primers PCR Primer
(F):5'- ATGAAGTGTGTCCGCATGC -3'
(R):5'- TCTGCTGCAGGTTCACGTTG -3'

Sequencing Primer
(F):5'- CCGCATGCGTAGTGGGAATG -3'
(R):5'- TAGTAGCTGCCCCCAAATGG -3'
Posted On 2015-04-29