Incidental Mutation 'R0943:Hoxb13'
ID 81976
Institutional Source Beutler Lab
Gene Symbol Hoxb13
Ensembl Gene ENSMUSG00000049604
Gene Name homeobox B13
Synonyms
MMRRC Submission 039082-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0943 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96085142-96087436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96086799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 202 (E202G)
Ref Sequence ENSEMBL: ENSMUSP00000056315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062709]
AlphaFold P70321
Predicted Effect probably benign
Transcript: ENSMUST00000062709
AA Change: E202G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056315
Gene: ENSMUSG00000049604
AA Change: E202G

DomainStartEndE-ValueType
Pfam:HoxA13_N 12 124 9.2e-31 PFAM
HOX 218 280 5.62e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184648
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,648,416 (GRCm39) N468S probably benign Het
Card6 A G 15: 5,129,768 (GRCm39) S543P probably damaging Het
Celsr1 T G 15: 85,787,489 (GRCm39) T2750P probably damaging Het
Csmd3 A G 15: 47,539,135 (GRCm39) M2341T probably damaging Het
Dym A G 18: 75,419,840 (GRCm39) *670W probably null Het
Ehbp1 T C 11: 22,045,883 (GRCm39) D597G probably benign Het
Emx1 G A 6: 85,180,901 (GRCm39) W206* probably null Het
Esr1 A G 10: 4,696,781 (GRCm39) K210R probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fads2b C T 2: 85,319,109 (GRCm39) D398N probably damaging Het
Fam72a T C 1: 131,456,517 (GRCm39) S27P possibly damaging Het
Fanca A T 8: 124,000,925 (GRCm39) C1152S probably damaging Het
Fras1 G A 5: 96,874,402 (GRCm39) V2276I probably benign Het
Lcmt1 T G 7: 123,000,662 (GRCm39) probably null Het
Nars2 C T 7: 96,605,138 (GRCm39) probably benign Het
Neil3 ATATTTATTTATTTATTTATTTATTTATTTATT ATATTTATTTATTTATTTATTTATTTATTTATTTATT 8: 54,062,404 (GRCm39) probably benign Het
Nup153 T C 13: 46,850,248 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,305 (GRCm39) V45A probably benign Het
Or5b112 C A 19: 13,319,157 (GRCm39) H12N probably benign Het
Prkar2a T C 9: 108,610,475 (GRCm39) probably benign Het
Ptprc T C 1: 138,038,902 (GRCm39) T209A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf26rt T C 6: 76,473,398 (GRCm39) H406R probably benign Het
Rprd2 C T 3: 95,691,559 (GRCm39) V239I possibly damaging Het
Sgo2b A G 8: 64,384,369 (GRCm39) F209S possibly damaging Het
Shfl A T 9: 20,784,258 (GRCm39) H160L possibly damaging Het
Spry2 T C 14: 106,131,021 (GRCm39) Y55C probably damaging Het
Tbc1d32 A T 10: 56,037,243 (GRCm39) V667E probably benign Het
Tbrg4 A G 11: 6,569,008 (GRCm39) F388L probably damaging Het
Tmt1a T C 15: 100,202,839 (GRCm39) Y20H probably benign Het
Tshz1 T C 18: 84,033,356 (GRCm39) T351A probably benign Het
Usp48 A G 4: 137,371,781 (GRCm39) N969S possibly damaging Het
Vmn2r108 A T 17: 20,691,397 (GRCm39) C375* probably null Het
Vps45 T A 3: 95,964,336 (GRCm39) I62F probably benign Het
Xab2 A G 8: 3,663,667 (GRCm39) F388L probably benign Het
Zfp735 A G 11: 73,602,909 (GRCm39) T618A probably benign Het
Zswim2 T A 2: 83,748,342 (GRCm39) R279S possibly damaging 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
IGL02973:Hoxb13 APN 11 96,085,669 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GAATCAGGCAGAATCTAGGGCTGTG -3'
(R):5'- GGCAAGAACCTTCTTCTCCTTGACC -3'

Sequencing Primer
(F):5'- AATCTAGGGCTGTGTGCTTTGAG -3'
(R):5'- CGGTTCTGAAACCAGATGGTAATC -3'
Posted On 2013-11-08