Incidental Mutation 'IGL01510:Hoxb5'
ID 89193
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 # IGL01510
Quality Score
Status
Chromosome 11
Chromosomal Location 96194338-96196947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96194818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 127 (S127C)
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: S127C

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035423
Gene: ENSMUSG00000038700
AA Change: S127C

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 (GRCm39) Q6R probably damaging Het
Adam5 A T 8: 25,294,481 (GRCm39) C373S probably damaging Het
Adgre4 T C 17: 56,125,760 (GRCm39) probably null Het
Akap10 A T 11: 61,768,846 (GRCm39) M614K possibly damaging Het
Amigo2 T C 15: 97,142,962 (GRCm39) T487A probably benign Het
Asap1 T C 15: 64,030,777 (GRCm39) D300G probably damaging Het
Atp4a C A 7: 30,420,216 (GRCm39) L788M probably benign Het
Bcl3 T A 7: 19,543,539 (GRCm39) H309L probably damaging Het
Cblc T C 7: 19,519,200 (GRCm39) N376S probably benign Het
Cd200r2 A T 16: 44,729,674 (GRCm39) I110L probably benign Het
Ceacam3 T C 7: 16,893,767 (GRCm39) M426T probably benign Het
Cep295 G A 9: 15,265,922 (GRCm39) R29* probably null Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Ctps1 G T 4: 120,416,041 (GRCm39) T194K probably damaging Het
Cul3 A G 1: 80,260,396 (GRCm39) S318P probably damaging Het
Fasl A T 1: 161,609,522 (GRCm39) S155T possibly damaging Het
Gldc C T 19: 30,091,121 (GRCm39) probably null Het
Gpr21 T A 2: 37,408,433 (GRCm39) C326* probably null Het
Gtf2a1 A G 12: 91,534,607 (GRCm39) S216P probably benign Het
Htt A T 5: 35,064,856 (GRCm39) Q3023L probably damaging Het
Kalrn T A 16: 34,055,700 (GRCm39) H855L possibly damaging Het
Lars1 T C 18: 42,375,174 (GRCm39) I289V probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Mapk7 A T 11: 61,381,986 (GRCm39) W309R probably damaging Het
Mmp12 A G 9: 7,358,307 (GRCm39) T468A possibly damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Naprt A G 15: 75,762,837 (GRCm39) probably benign Het
Nfatc1 T C 18: 80,741,403 (GRCm39) Y199C probably damaging Het
Or7e166 A T 9: 19,624,575 (GRCm39) I151F probably benign Het
Or8g51 T C 9: 38,609,201 (GRCm39) I158V probably benign Het
Phip T A 9: 82,795,924 (GRCm39) I566F probably benign Het
Pnpla3 T A 15: 84,055,273 (GRCm39) probably benign Het
Ptpn13 C T 5: 103,710,166 (GRCm39) T1567I probably damaging Het
Ptpn20 A G 14: 33,360,343 (GRCm39) probably null Het
Ptprq G T 10: 107,547,909 (GRCm39) T163K probably damaging Het
Slc8a1 A G 17: 81,955,794 (GRCm39) C415R probably damaging Het
Slco4c1 A G 1: 96,795,678 (GRCm39) S127P probably damaging Het
Tcerg1l A T 7: 137,996,034 (GRCm39) probably benign Het
Thbd C T 2: 148,248,894 (GRCm39) V325M probably damaging Het
Trim37 G A 11: 87,068,686 (GRCm39) R344H probably damaging Het
Ttn T C 2: 76,703,109 (GRCm39) probably benign Het
Uvrag G A 7: 98,653,796 (GRCm39) Q65* probably null Het
Wrap53 G A 11: 69,453,566 (GRCm39) S342L possibly damaging Het
Zbtb11 T G 16: 55,810,706 (GRCm39) V288G probably damaging Het
Other mutations in Hoxb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-03