Incidental Mutation 'IGL02876:Hoxb5'
ID 406237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb5
Ensembl Gene ENSMUSG00000038700
Gene Name homeobox B5
Synonyms Hox-2.1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02876
Quality Score
Status
Chromosome 11
Chromosomal Location 96194338-96196947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96194594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 52 (M52K)
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: M52K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035423
Gene: ENSMUSG00000038700
AA Change: M52K

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
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Gpatch3 T A 4: 133,307,995 (GRCm39) V363E probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Mnat1 A G 12: 73,217,378 (GRCm39) R85G probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Pdzph1 C A 17: 59,281,064 (GRCm39) S406I probably benign Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Srgap3 A G 6: 112,748,414 (GRCm39) S413P probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Surf6 A G 2: 26,782,638 (GRCm39) Y230H probably damaging Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T 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
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
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
Posted On 2016-08-02