Incidental Mutation 'IGL02219:Hoxb3'
ID 285058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb3
Ensembl Gene ENSMUSG00000048763
Gene Name homeobox B3
Synonyms Hox-2.7
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # IGL02219
Quality Score
Status
Chromosome 11
Chromosomal Location 96214152-96238756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96236986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 355 (Y355H)
Ref Sequence ENSEMBL: ENSMUSP00000091476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055334] [ENSMUST00000093944] [ENSMUST00000123091]
AlphaFold P09026
Predicted Effect probably damaging
Transcript: ENSMUST00000055334
AA Change: Y355H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053426
Gene: ENSMUSG00000048763
AA Change: Y355H

DomainStartEndE-ValueType
low complexity region 76 121 N/A INTRINSIC
low complexity region 154 181 N/A INTRINSIC
HOX 191 253 5.44e-28 SMART
low complexity region 256 274 N/A INTRINSIC
Pfam:DUF4074 367 431 9.4e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093944
AA Change: Y355H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763
AA Change: Y355H

DomainStartEndE-ValueType
low complexity region 76 121 N/A INTRINSIC
low complexity region 154 181 N/A INTRINSIC
HOX 191 253 5.44e-28 SMART
low complexity region 256 274 N/A INTRINSIC
Pfam:DUF4074 368 431 1.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182030
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 development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial neonatal lethality and mild and low penetrance defects in the formation of the anterior arch of the atlas and the IXth cranial nerve. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik A T 1: 192,515,691 (GRCm39) noncoding transcript Het
Abcb10 G A 8: 124,681,166 (GRCm39) H677Y probably benign Het
Ager T C 17: 34,819,094 (GRCm39) V314A probably damaging Het
Asxl3 A G 18: 22,586,683 (GRCm39) M158V possibly damaging Het
Atp1a2 G A 1: 172,107,298 (GRCm39) Q741* probably null Het
Atp1a2 A T 1: 172,107,285 (GRCm39) M745K probably damaging Het
Begain A G 12: 108,999,656 (GRCm39) S577P probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Camk2b A G 11: 5,926,872 (GRCm39) L497P possibly damaging Het
Cand2 T A 6: 115,780,773 (GRCm39) I1219N probably damaging Het
Cckbr T A 7: 105,083,255 (GRCm39) Y153N probably damaging Het
Cep250 T G 2: 155,833,514 (GRCm39) V1812G probably benign Het
Cyp2c39 A T 19: 39,556,643 (GRCm39) probably benign Het
Ddx43 T A 9: 78,324,001 (GRCm39) M444K probably damaging Het
Dnm1 A T 2: 32,213,462 (GRCm39) M506K probably benign Het
Duox2 A T 2: 122,125,145 (GRCm39) H352Q probably benign Het
Fcgbpl1 T C 7: 27,854,060 (GRCm39) Y1675H probably damaging Het
Fsip2 A G 2: 82,808,174 (GRCm39) T1498A probably benign Het
Gcn1 A T 5: 115,751,826 (GRCm39) Q2067L possibly damaging Het
Get4 G T 5: 139,249,384 (GRCm39) probably null Het
Gm6370 G A 5: 146,430,453 (GRCm39) A213T possibly damaging Het
Gpr135 T C 12: 72,117,047 (GRCm39) Y240C probably damaging Het
Gstm5 T A 3: 107,805,347 (GRCm39) L145Q probably damaging Het
Hsf2 A C 10: 57,372,370 (GRCm39) K108Q probably damaging Het
Kdm3a T C 6: 71,577,718 (GRCm39) N694S probably benign Het
Lrpap1 G A 5: 35,253,411 (GRCm39) probably benign Het
Mapk8ip3 T C 17: 25,118,532 (GRCm39) T1162A probably damaging Het
Mettl14 T C 3: 123,168,540 (GRCm39) probably benign Het
Mrgprx1 T C 7: 47,671,477 (GRCm39) Y90C probably benign Het
Mybpc3 A T 2: 90,951,368 (GRCm39) probably null Het
Nup88 C T 11: 70,860,518 (GRCm39) G87D probably benign Het
Or5w20 A G 2: 87,727,317 (GRCm39) Y258C possibly damaging Het
Or7d9 A T 9: 20,197,756 (GRCm39) T254S probably benign Het
Or9i1 C T 19: 13,839,187 (GRCm39) T10M probably damaging Het
Pan2 G A 10: 128,156,221 (GRCm39) E1133K probably benign Het
Pcsk2 T C 2: 143,635,045 (GRCm39) S307P probably damaging Het
Pdgfa C T 5: 138,971,950 (GRCm39) V150I probably damaging Het
Phf12 T C 11: 77,875,022 (GRCm39) C83R probably damaging Het
Pla2g2c A G 4: 138,463,319 (GRCm39) Y71C probably damaging Het
Pou2f2 T A 7: 24,797,107 (GRCm39) Q218L probably damaging Het
Prl8a9 C T 13: 27,743,353 (GRCm39) V151I possibly damaging Het
Prop1 T C 11: 50,842,911 (GRCm39) D92G probably damaging Het
Rnf13 A G 3: 57,703,644 (GRCm39) Y116C probably damaging Het
Ro60 A G 1: 143,637,013 (GRCm39) C400R possibly damaging Het
Scrib T A 15: 75,936,885 (GRCm39) K383* probably null Het
Slc44a5 T C 3: 153,944,796 (GRCm39) Y138H possibly damaging Het
Stra6 G A 9: 58,047,752 (GRCm39) V108M probably benign Het
Tspan10 G T 11: 120,337,198 (GRCm39) A323S probably benign Het
Ttc22 T A 4: 106,495,687 (GRCm39) V347D probably damaging Het
Ugt1a10 C T 1: 87,983,780 (GRCm39) L193F probably benign Het
Vps13d G T 4: 144,894,716 (GRCm39) H457N probably benign Het
Vrtn A G 12: 84,695,607 (GRCm39) Y119C probably damaging Het
Xpnpep3 T C 15: 81,311,657 (GRCm39) F121S probably damaging Het
Other mutations in Hoxb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0082:Hoxb3 UTSW 11 96,235,097 (GRCm39) missense probably damaging 1.00
R0621:Hoxb3 UTSW 11 96,236,789 (GRCm39) missense probably damaging 1.00
R0701:Hoxb3 UTSW 11 96,237,074 (GRCm39) nonsense probably null
R2205:Hoxb3 UTSW 11 96,236,494 (GRCm39) missense probably benign
R4093:Hoxb3 UTSW 11 96,236,926 (GRCm39) missense probably damaging 0.99
R4620:Hoxb3 UTSW 11 96,236,599 (GRCm39) missense probably damaging 0.96
R5453:Hoxb3 UTSW 11 96,235,480 (GRCm39) missense probably damaging 0.99
R6180:Hoxb3 UTSW 11 96,236,929 (GRCm39) missense probably benign 0.03
R7522:Hoxb3 UTSW 11 96,235,507 (GRCm39) missense probably damaging 1.00
R7714:Hoxb3 UTSW 11 96,236,606 (GRCm39) missense probably damaging 0.98
R8427:Hoxb3 UTSW 11 96,236,421 (GRCm39) unclassified probably benign
R8427:Hoxb3 UTSW 11 96,236,415 (GRCm39) unclassified probably benign
R8438:Hoxb3 UTSW 11 96,236,609 (GRCm39) missense probably benign 0.01
R9004:Hoxb3 UTSW 11 96,237,137 (GRCm39) missense possibly damaging 0.70
R9622:Hoxb3 UTSW 11 96,235,420 (GRCm39) nonsense probably null
U24488:Hoxb3 UTSW 11 96,235,456 (GRCm39) missense probably benign 0.15
Posted On 2015-04-16