Incidental Mutation 'R3978:Hoxc13'
ID 359686
Institutional Source Beutler Lab
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
MMRRC Submission 040941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3978 (G1)
Quality Score 59
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: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T possibly 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
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'- CTTAATGAAGTGTGTCCGCATGC -3'
(R):5'- AGGTTCACGTTGTGCGACAG -3'

Sequencing Primer
(F):5'- CCGCATGCGTAGTGGGAATG -3'
(R):5'- TAGTAGCTGCCCCCAAATGG -3'
Posted On 2015-11-18