Incidental Mutation 'R0386:Hoxc5'
ID 31310
Institutional Source Beutler Lab
Gene Symbol Hoxc5
Ensembl Gene ENSMUSG00000022485
Gene Name homeobox C5
Synonyms Hox-6.2, Hox-3.4
MMRRC Submission 038592-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R0386 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 102922440-102925861 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102923784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 193 (C193*)
Ref Sequence ENSEMBL: ENSMUSP00000001709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001709] [ENSMUST00000001711] [ENSMUST00000165375]
AlphaFold P32043
Predicted Effect probably null
Transcript: ENSMUST00000001709
AA Change: C193*
SMART Domains Protein: ENSMUSP00000001709
Gene: ENSMUSG00000022485
AA Change: C193*

DomainStartEndE-ValueType
low complexity region 69 85 N/A INTRINSIC
HOX 155 217 3.03e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000001711
SMART Domains Protein: ENSMUSP00000001711
Gene: ENSMUSG00000001661

DomainStartEndE-ValueType
HOX 141 203 2.39e-24 SMART
low complexity region 221 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102056
Predicted Effect probably benign
Transcript: ENSMUST00000165375
SMART Domains Protein: ENSMUSP00000133561
Gene: ENSMUSG00000075394

DomainStartEndE-ValueType
low complexity region 46 68 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174869
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
Validation Efficiency 98% (56/57)
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, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,044,308 (GRCm39) V194A probably damaging Het
Adamts13 G A 2: 26,876,691 (GRCm39) probably null Het
Ahnak T C 19: 8,988,508 (GRCm39) M3264T possibly damaging Het
Birc6 T A 17: 74,906,335 (GRCm39) C1409S probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Dnah2 A G 11: 69,338,687 (GRCm39) V3161A probably damaging Het
Dnah5 A T 15: 28,383,727 (GRCm39) Y2983F probably damaging Het
Dnah6 G A 6: 73,060,107 (GRCm39) L2774F probably damaging Het
Dst A T 1: 34,256,917 (GRCm39) T4398S probably damaging Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Efcab5 A T 11: 77,063,204 (GRCm39) M96K probably benign Het
Elavl4 A G 4: 110,063,902 (GRCm39) probably benign Het
Flt4 G A 11: 49,535,213 (GRCm39) A1214T probably benign Het
Fn1 G T 1: 71,634,945 (GRCm39) T2127N probably damaging Het
Foxj1 A T 11: 116,222,629 (GRCm39) S391R possibly damaging Het
Gabrb1 A T 5: 72,266,150 (GRCm39) Y269F probably damaging Het
Ghitm A G 14: 36,847,868 (GRCm39) S259P possibly damaging Het
Gm16332 A G 1: 139,851,928 (GRCm39) noncoding transcript Het
Gm16380 T A 9: 53,791,727 (GRCm39) noncoding transcript Het
Gm9869 A T 9: 60,745,344 (GRCm39) probably benign Het
Gm9936 G A 5: 114,995,192 (GRCm39) Q142* probably null Het
Hmbs T C 9: 44,248,305 (GRCm39) Y260C probably benign Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Lce1j T C 3: 92,696,695 (GRCm39) K28E unknown Het
Lpgat1 C T 1: 191,451,460 (GRCm39) probably benign Het
Lyst T C 13: 13,882,799 (GRCm39) probably benign Het
Megf11 A G 9: 64,547,360 (GRCm39) N235D probably damaging Het
Mst1r T A 9: 107,794,003 (GRCm39) probably null Het
Nr2c2ap A G 8: 70,584,237 (GRCm39) D9G probably benign Het
Obscn T C 11: 59,027,165 (GRCm39) T13A probably damaging Het
Ofcc1 A C 13: 40,367,950 (GRCm39) L188* probably null Het
Oma1 A T 4: 103,182,398 (GRCm39) probably benign Het
Or10aa3 A T 1: 173,877,965 (GRCm39) T9S probably benign Het
Or5m11 A G 2: 85,782,217 (GRCm39) E270G probably damaging Het
Pcm1 T C 8: 41,769,060 (GRCm39) F1642S probably damaging Het
Pglyrp2 A G 17: 32,639,836 (GRCm39) M1T probably null Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prdm10 C A 9: 31,227,596 (GRCm39) T67K probably damaging Het
Ralgapa1 A T 12: 55,754,852 (GRCm39) H1193Q probably benign Het
Sall1 A G 8: 89,759,232 (GRCm39) S291P probably damaging Het
Sdk2 T C 11: 113,784,290 (GRCm39) T150A probably damaging Het
Sel1l2 T A 2: 140,117,361 (GRCm39) Y170F probably benign Het
Sema4a C T 3: 88,344,107 (GRCm39) V715I possibly damaging Het
Smgc G A 15: 91,738,841 (GRCm39) A500T probably benign Het
Spef2 A G 15: 9,584,148 (GRCm39) V1639A probably damaging Het
Srrm4 A G 5: 116,620,437 (GRCm39) probably benign Het
Tbc1d23 G A 16: 57,009,636 (GRCm39) H418Y probably damaging Het
Tbk1 A G 10: 121,420,159 (GRCm39) L10P probably damaging Het
Thumpd3 G A 6: 113,042,621 (GRCm39) probably null Het
Trp53bp1 G T 2: 121,035,424 (GRCm39) T1609K probably damaging Het
Tut1 A G 19: 8,932,919 (GRCm39) N84S probably benign Het
Urb1 C T 16: 90,593,287 (GRCm39) G282R probably damaging Het
Usp19 A T 9: 108,376,910 (GRCm39) D1160V probably damaging Het
Usp9y A G Y: 1,316,933 (GRCm39) V1872A probably damaging Het
Zfp276 C A 8: 123,986,242 (GRCm39) Y386* probably null Het
Other mutations in Hoxc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03339:Hoxc5 APN 15 102,922,568 (GRCm39) missense probably damaging 0.98
R1797:Hoxc5 UTSW 15 102,922,866 (GRCm39) missense probably benign 0.00
R2021:Hoxc5 UTSW 15 102,922,814 (GRCm39) splice site probably null
R4851:Hoxc5 UTSW 15 102,923,801 (GRCm39) missense probably damaging 1.00
R4967:Hoxc5 UTSW 15 102,923,786 (GRCm39) missense probably damaging 1.00
R5089:Hoxc5 UTSW 15 102,922,487 (GRCm39) unclassified probably benign
R6718:Hoxc5 UTSW 15 102,922,698 (GRCm39) splice site probably null
R6784:Hoxc5 UTSW 15 102,922,322 (GRCm39) unclassified probably benign
R6927:Hoxc5 UTSW 15 102,923,807 (GRCm39) missense probably damaging 1.00
R8982:Hoxc5 UTSW 15 102,923,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCTGCACGCTATTCATCCC -3'
(R):5'- TGCCAAAGAAATGCGCTTTTGTCTG -3'

Sequencing Primer
(F):5'- ATTCATCCCTCCCTGGTTTGG -3'
(R):5'- TCCGCCTCAAAATCTAGAAGGAG -3'
Posted On 2013-04-24