Incidental Mutation 'R7127:Hoxc13'
ID 552419
Institutional Source Beutler Lab
Gene Symbol Hoxc13
Ensembl Gene ENSMUSG00000001655
Gene Name homeobox C13
Synonyms N
MMRRC Submission 045246-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7127 (G1)
Quality Score 199.009
Status Not validated
Chromosome 15
Chromosomal Location 102829566-102837249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102829903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 94 (I94T)
Ref Sequence ENSEMBL: ENSMUSP00000001700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001700]
AlphaFold P50207
Predicted Effect possibly damaging
Transcript: ENSMUST00000001700
AA Change: I94T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: I94T

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: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,931,825 (GRCm39) T26I probably benign Het
Adam5 A T 8: 25,300,797 (GRCm39) I244N probably damaging Het
Adam7 A G 14: 68,752,218 (GRCm39) probably null Het
Aox4 T A 1: 58,268,033 (GRCm39) N204K probably benign Het
Arl13b C T 16: 62,622,102 (GRCm39) G397D probably damaging Het
AU041133 T C 10: 81,986,700 (GRCm39) F118L probably benign Het
Brinp1 C T 4: 68,711,260 (GRCm39) R316H probably benign Het
Cabcoco1 C T 10: 68,272,160 (GRCm39) V268I probably benign Het
Car15 T C 16: 17,656,060 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,576,421 (GRCm39) D89E possibly damaging Het
Cckar T A 5: 53,863,817 (GRCm39) Y48F probably damaging Het
Cdyl T A 13: 36,040,651 (GRCm39) S282T probably benign Het
Clca3a1 T C 3: 144,711,806 (GRCm39) T730A probably damaging Het
Cracr2b T C 7: 141,045,695 (GRCm39) S318P possibly damaging Het
Depdc1b T C 13: 108,460,462 (GRCm39) F24S probably damaging Het
Duox2 C T 2: 122,122,430 (GRCm39) G565D probably benign Het
Ehbp1 A T 11: 22,003,529 (GRCm39) Y1073* probably null Het
Epg5 A T 18: 78,072,140 (GRCm39) N2384I probably damaging Het
Fam171b A G 2: 83,710,110 (GRCm39) D594G probably benign Het
Flad1 A G 3: 89,310,725 (GRCm39) Y441H probably damaging Het
Fn1 T C 1: 71,636,703 (GRCm39) T2150A probably benign Het
Fnta C A 8: 26,497,231 (GRCm39) R206L probably damaging Het
Gadd45b A T 10: 80,766,999 (GRCm39) M95L probably benign Het
Gbp8 A T 5: 105,165,578 (GRCm39) H358Q probably benign Het
Glipr1l3 C A 10: 111,983,995 (GRCm39) G157V probably damaging Het
Hunk A G 16: 90,272,779 (GRCm39) D361G probably damaging Het
Igkv3-4 T A 6: 70,649,155 (GRCm39) Y51* probably null Het
Kif26a C T 12: 112,144,579 (GRCm39) P1611L probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lrrc8d T C 5: 105,960,829 (GRCm39) V413A probably damaging Het
Med6 C T 12: 81,635,774 (GRCm39) R86Q probably damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Or6c66b T A 10: 129,376,936 (GRCm39) C177S probably damaging Het
Plk3 A T 4: 116,987,767 (GRCm39) V429E probably benign Het
Plrg1 C T 3: 82,967,222 (GRCm39) P131L probably damaging Het
Plscr4 C T 9: 92,372,831 (GRCm39) R318* probably null Het
Rab34 A T 11: 78,082,056 (GRCm39) K152* probably null Het
Rasef A T 4: 73,662,369 (GRCm39) S194T probably damaging Het
Rcc1 A G 4: 132,062,107 (GRCm39) S269P probably damaging Het
Resf1 T C 6: 149,229,443 (GRCm39) F830L possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scin A G 12: 40,155,071 (GRCm39) I174T possibly damaging Het
Serpinb8 A G 1: 107,525,200 (GRCm39) M1V probably null Het
Smok3c A T 5: 138,062,971 (GRCm39) I153F probably damaging Het
Spen G A 4: 141,203,419 (GRCm39) S1736L possibly damaging Het
Sspo T A 6: 48,426,446 (GRCm39) M155K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sun2 T C 15: 79,612,100 (GRCm39) I528M probably benign Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Taok2 G T 7: 126,466,326 (GRCm39) A831E possibly damaging Het
Tas2r126 T C 6: 42,411,739 (GRCm39) F91L probably damaging Het
Tas2r140 A G 6: 133,031,922 (GRCm39) S279P possibly damaging Het
Tiam1 A T 16: 89,657,148 (GRCm39) L696H probably damaging Het
Trank1 T G 9: 111,194,864 (GRCm39) S963A possibly damaging Het
Trf A G 9: 103,102,326 (GRCm39) V184A probably benign Het
Ttll13 T A 7: 79,903,406 (GRCm39) M231K possibly damaging Het
Tuba1a T G 15: 98,849,455 (GRCm39) T41P probably benign Het
Zfhx4 A G 3: 5,478,104 (GRCm39) Q3573R probably damaging Het
Zfp141 G A 7: 42,124,853 (GRCm39) H540Y 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
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'- ATGTACGTCTATGAGGACAGC -3'
(R):5'- TAGAAGGCGAACTCCTTAGCC -3'

Sequencing Primer
(F):5'- TCTATGAGGACAGCGCGGC -3'
(R):5'- ACGGCTCTGGGTACTTGTCC -3'
Posted On 2019-05-15