Incidental Mutation 'R0536:Hoxb5'
ID 49465
Institutional Source Beutler Lab
Gene Symbol Hoxb5
Ensembl Gene ENSMUSG00000038700
Gene Name homeobox B5
Synonyms Hox-2.1
MMRRC Submission 038728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0536 (G1)
Quality Score 172
Status Validated
Chromosome 11
Chromosomal Location 96194338-96196947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96194854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 139 (S139P)
Ref Sequence ENSEMBL: ENSMUSP00000035423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000704] [ENSMUST00000049272] [ENSMUST00000173432]
AlphaFold P09079
Predicted Effect probably benign
Transcript: ENSMUST00000000704
SMART Domains Protein: ENSMUSP00000000704
Gene: ENSMUSG00000000690

DomainStartEndE-ValueType
low complexity region 54 71 N/A INTRINSIC
HOX 146 208 1.49e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000049272
AA Change: S139P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035423
Gene: ENSMUSG00000038700
AA Change: S139P

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
low complexity region 135 158 N/A INTRINSIC
HOX 194 256 1.63e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150698
Predicted Effect probably benign
Transcript: ENSMUST00000173432
SMART Domains Protein: ENSMUSP00000133281
Gene: ENSMUSG00000000690

DomainStartEndE-ValueType
low complexity region 54 71 N/A INTRINSIC
HOX 146 208 1.49e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190470
Meta Mutation Damage Score 0.1541 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but exhibit a rostral shift of the shoulder girdle resulting in altered position of the forelimbs, and show variable anteriorizing homeotic transformations of cervicothoracic vertrebrae C6 through T1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,171,342 (GRCm39) probably benign Het
Agrn A T 4: 156,264,010 (GRCm39) D84E probably benign Het
Akap11 A G 14: 78,751,464 (GRCm39) S308P probably damaging Het
Atp6v1c2 A T 12: 17,357,509 (GRCm39) probably null Het
AW209491 A G 13: 14,811,558 (GRCm39) Y137C probably damaging Het
Chst9 G A 18: 15,628,387 (GRCm39) probably benign Het
Dok7 A G 5: 35,223,826 (GRCm39) T122A probably damaging Het
Ikzf4 T A 10: 128,477,118 (GRCm39) E64D probably benign Het
Kif21a C A 15: 90,843,886 (GRCm39) probably benign Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lama3 C T 18: 12,658,951 (GRCm39) R2036C probably damaging Het
Lrba T A 3: 86,622,839 (GRCm39) V311D probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mylk T C 16: 34,820,757 (GRCm39) V1903A possibly damaging Het
Naa30 C T 14: 49,410,534 (GRCm39) A154V possibly damaging Het
Or2ag1 T A 7: 106,313,528 (GRCm39) Y120F probably damaging Het
Or52z12 T C 7: 103,233,468 (GRCm39) S80P probably damaging Het
Or8g24 G T 9: 38,989,625 (GRCm39) Q139K probably benign Het
Pgm3 C T 9: 86,449,589 (GRCm39) V144M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rgsl1 T A 1: 153,701,927 (GRCm39) S211C probably damaging Het
Setx T C 2: 29,048,260 (GRCm39) Y1954H possibly damaging Het
Sorcs3 C T 19: 48,791,137 (GRCm39) Q1162* probably null Het
Sptbn2 T A 19: 4,776,718 (GRCm39) D255E probably damaging Het
Ttc39b T C 4: 83,145,435 (GRCm39) E597G probably damaging Het
Vldlr G A 19: 27,217,364 (GRCm39) A436T probably damaging Het
Wdr72 G A 9: 74,064,690 (GRCm39) G574D probably damaging Het
Zzz3 T G 3: 152,154,465 (GRCm39) I572S probably damaging Het
Other mutations in Hoxb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Hoxb5 APN 11 96,194,818 (GRCm39) missense possibly damaging 0.74
IGL02608:Hoxb5 APN 11 96,195,969 (GRCm39) unclassified probably benign
IGL02876:Hoxb5 APN 11 96,194,594 (GRCm39) missense probably damaging 0.98
R0233:Hoxb5 UTSW 11 96,195,853 (GRCm39) missense probably benign 0.04
R0233:Hoxb5 UTSW 11 96,195,853 (GRCm39) missense probably benign 0.04
R1962:Hoxb5 UTSW 11 96,194,918 (GRCm39) missense probably benign 0.19
R3769:Hoxb5 UTSW 11 96,194,795 (GRCm39) missense possibly damaging 0.59
R4250:Hoxb5 UTSW 11 96,194,854 (GRCm39) missense possibly damaging 0.86
R4457:Hoxb5 UTSW 11 96,194,546 (GRCm39) missense probably damaging 1.00
R6515:Hoxb5 UTSW 11 96,195,908 (GRCm39) missense probably damaging 1.00
R9756:Hoxb5 UTSW 11 96,194,449 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCGGCTCTTACGGCTACAATTAC -3'
(R):5'- CCCAGAAAACAACACTGTTTGGCTC -3'

Sequencing Primer
(F):5'- TTACAATGGGATGGATCTCAGC -3'
(R):5'- CCTCTTGATGGCaaaaaaaaagaaag -3'
Posted On 2013-06-12