Incidental Mutation 'IGL02973:Hoxb13'
ID 365885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb13
Ensembl Gene ENSMUSG00000049604
Gene Name homeobox B13
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02973
Quality Score
Status
Chromosome 11
Chromosomal Location 96085142-96087436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96085669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 134 (Y134C)
Ref Sequence ENSEMBL: ENSMUSP00000056315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062709]
AlphaFold P70321
Predicted Effect probably damaging
Transcript: ENSMUST00000062709
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056315
Gene: ENSMUSG00000049604
AA Change: Y134C

DomainStartEndE-ValueType
Pfam:HoxA13_N 12 124 9.2e-31 PFAM
HOX 218 280 5.62e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183987
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for loss of function mutations show overgrowth in all major structures derived from the tail bud. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Hoxb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Hoxb13 APN 11 96,085,468 (GRCm39) missense possibly damaging 0.79
IGL02005:Hoxb13 APN 11 96,085,435 (GRCm39) missense probably damaging 1.00
R0943:Hoxb13 UTSW 11 96,086,799 (GRCm39) missense probably benign
R4573:Hoxb13 UTSW 11 96,085,777 (GRCm39) missense probably damaging 1.00
R4658:Hoxb13 UTSW 11 96,085,309 (GRCm39) missense probably benign 0.19
R6976:Hoxb13 UTSW 11 96,087,044 (GRCm39) missense probably benign
Posted On 2015-12-18