Incidental Mutation 'R6976:Hoxb13'
ID 542468
Institutional Source Beutler Lab
Gene Symbol Hoxb13
Ensembl Gene ENSMUSG00000049604
Gene Name homeobox B13
Synonyms
MMRRC Submission 045382-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6976 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96085142-96087436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96087044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 284 (T284A)
Ref Sequence ENSEMBL: ENSMUSP00000056315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062709]
AlphaFold P70321
Predicted Effect probably benign
Transcript: ENSMUST00000062709
AA Change: T284A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056315
Gene: ENSMUSG00000049604
AA Change: T284A

DomainStartEndE-ValueType
Pfam:HoxA13_N 12 124 9.2e-31 PFAM
HOX 218 280 5.62e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,397,929 (GRCm39) probably null Het
Adamts4 G T 1: 171,079,877 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,669,116 (GRCm39) K2480M probably damaging Het
Ankhd1 A C 18: 36,781,307 (GRCm39) S2120R probably benign Het
Ash1l T A 3: 88,888,964 (GRCm39) V281E possibly damaging Het
Bdh1 G A 16: 31,256,847 (GRCm39) A35T probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cel G A 2: 28,446,854 (GRCm39) S439F probably damaging Het
Dnah11 T C 12: 118,162,378 (GRCm39) S64G probably benign Het
Dpp7 T C 2: 25,244,836 (GRCm39) probably null Het
Fam83c T A 2: 155,672,157 (GRCm39) Y426F possibly damaging Het
Fasn A G 11: 120,710,693 (GRCm39) I322T probably damaging Het
Glod4 A G 11: 76,134,406 (GRCm39) F22S probably damaging Het
Gm3127 A G 14: 15,432,190 (GRCm39) T231A possibly damaging Het
Gm49383 A G 12: 69,243,730 (GRCm39) S444P possibly damaging Het
Gnaz T C 10: 74,827,268 (GRCm39) S7P possibly damaging Het
Grin2b C T 6: 135,757,198 (GRCm39) S421N probably benign Het
Grm1 T C 10: 10,564,924 (GRCm39) D1128G probably benign Het
Il9r G A 11: 32,143,177 (GRCm39) Q260* probably null Het
Lrrfip1 T A 1: 91,042,737 (GRCm39) C381S probably benign Het
Mitd1 A T 1: 37,921,778 (GRCm39) D85E probably benign Het
Muc4 G A 16: 32,582,892 (GRCm39) D2556N possibly damaging Het
Nlrc4 A G 17: 74,752,934 (GRCm39) I483T probably damaging Het
Or13e8 A G 4: 43,697,170 (GRCm39) M1T probably null Het
Or2ag17 A T 7: 106,389,434 (GRCm39) M258K probably damaging Het
Or8g4 A G 9: 39,662,540 (GRCm39) N286S probably damaging Het
Pcdhb7 C A 18: 37,476,631 (GRCm39) A589E probably benign Het
Pcdhgb5 G A 18: 37,864,321 (GRCm39) E39K probably damaging Het
Pja2 T C 17: 64,615,954 (GRCm39) K314E probably damaging Het
Plcb1 A G 2: 135,104,159 (GRCm39) E276G possibly damaging Het
Ppp2r5c A G 12: 110,510,579 (GRCm39) E122G probably damaging Het
Prrc2c A T 1: 162,520,413 (GRCm39) N732K probably damaging Het
Rb1cc1 T A 1: 6,333,126 (GRCm39) D1348E probably benign Het
Sh3rf1 G T 8: 61,814,766 (GRCm39) E442* probably null Het
Snapc1 A G 12: 74,016,974 (GRCm39) D204G probably damaging Het
Sry C T Y: 2,662,938 (GRCm39) D241N unknown Het
Strn4 T A 7: 16,564,279 (GRCm39) M303K probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tnni3k A G 3: 154,498,413 (GRCm39) Y809H probably benign Het
Tnpo3 A T 6: 29,572,594 (GRCm39) C419* probably null Het
Trpm6 T C 19: 18,760,527 (GRCm39) S143P probably benign Het
Ttc23l A T 15: 10,537,666 (GRCm39) C201* probably null Het
Ubr4 A G 4: 139,120,388 (GRCm39) N271S probably damaging Het
Vmn1r70 T C 7: 10,367,971 (GRCm39) M134T probably benign Het
Vmn2r27 C T 6: 124,201,312 (GRCm39) W215* probably null Het
Xirp1 A T 9: 119,846,984 (GRCm39) M633K probably damaging Het
Zfp174 T C 16: 3,665,804 (GRCm39) I23T possibly damaging Het
Zfp536 T A 7: 37,179,828 (GRCm39) S926C probably damaging Het
Zfp943 T C 17: 22,209,922 (GRCm39) S65P 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
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
Predicted Primers PCR Primer
(F):5'- ACGCATTCCCTATAGCAAGG -3'
(R):5'- CACCACGGTCCAGATGAATG -3'

Sequencing Primer
(F):5'- CAAGGGGCAGTTGCGGG -3'
(R):5'- CCACGGTCCAGATGAATGATTATGAC -3'
Posted On 2018-11-28