Incidental Mutation 'R6515:Hoxb5'
ID 520623
Institutional Source Beutler Lab
Gene Symbol Hoxb5
Ensembl Gene ENSMUSG00000038700
Gene Name homeobox B5
Synonyms Hox-2.1
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6515 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96194338-96196947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96195908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 252 (D252V)
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 probably damaging
Transcript: ENSMUST00000049272
AA Change: D252V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035423
Gene: ENSMUSG00000038700
AA Change: D252V

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 0.5539 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign 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
R0536:Hoxb5 UTSW 11 96,194,854 (GRCm39) missense possibly damaging 0.86
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
R9756:Hoxb5 UTSW 11 96,194,449 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCTCTAACTGCTCTAGATATGACTG -3'
(R):5'- TGTAACACAGGACTGGGGTG -3'

Sequencing Primer
(F):5'- CTCTAGATATGACTGGGCCAGAC -3'
(R):5'- TGTGACAGGCTCGTGGGAAC -3'
Posted On 2018-06-06