Incidental Mutation 'IGL02992:Hoxb2'
ID 407000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb2
Ensembl Gene ENSMUSG00000075588
Gene Name homeobox B2
Synonyms Hox-2.8, Hoxbes2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.617) question?
Stock # IGL02992
Quality Score
Status
Chromosome 11
Chromosomal Location 96242458-96244846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96243910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 174 (I174F)
Ref Sequence ENSEMBL: ENSMUSP00000098092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100523]
AlphaFold P0C1T1
Predicted Effect probably damaging
Transcript: ENSMUST00000100523
AA Change: I174F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098092
Gene: ENSMUSG00000075588
AA Change: I174F

DomainStartEndE-ValueType
low complexity region 76 94 N/A INTRINSIC
low complexity region 99 118 N/A INTRINSIC
HOX 141 203 2.54e-28 SMART
low complexity region 204 213 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
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 pancreatic cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,935 (GRCm39) K1164E probably damaging Het
Arhgap42 G A 9: 8,998,249 (GRCm39) probably benign Het
Arhgef12 T C 9: 42,910,373 (GRCm39) D612G probably damaging Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Daw1 T C 1: 83,174,934 (GRCm39) probably benign Het
Daxx T A 17: 34,130,722 (GRCm39) C246S probably damaging Het
Dpp7 T C 2: 25,244,589 (GRCm39) D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 (GRCm39) H1472L probably benign Het
Fastkd2 T C 1: 63,777,083 (GRCm39) probably benign Het
Fcrl2 T G 3: 87,166,773 (GRCm39) R73S probably damaging Het
Gatb A G 3: 85,526,223 (GRCm39) D367G probably damaging Het
Gm20547 T A 17: 35,076,095 (GRCm39) E654V probably damaging Het
Gm839 T A 6: 89,189,509 (GRCm39) noncoding transcript Het
Gtf2ird2 A T 5: 134,246,456 (GRCm39) M905L possibly damaging Het
Hrh3 A G 2: 179,742,608 (GRCm39) V308A probably benign Het
Ints9 A G 14: 65,217,613 (GRCm39) K47E probably benign Het
Irak3 A T 10: 120,018,566 (GRCm39) Y61N probably damaging Het
Itpr1 A G 6: 108,358,276 (GRCm39) E614G probably damaging Het
Lgals3 A T 14: 47,622,982 (GRCm39) I214L probably benign Het
Msh4 G T 3: 153,577,962 (GRCm39) T444K possibly damaging Het
Myh7b C A 2: 155,463,330 (GRCm39) Q521K probably damaging Het
Naip5 T A 13: 100,359,536 (GRCm39) I567F probably damaging Het
Nf1 A G 11: 79,325,759 (GRCm39) probably benign Het
Nlrc3 C T 16: 3,771,887 (GRCm39) probably benign Het
Nlrc5 A C 8: 95,233,201 (GRCm39) E1353A possibly damaging Het
Nr1h3 T A 2: 91,020,911 (GRCm39) I260F probably damaging Het
Pcnx1 G A 12: 82,010,894 (GRCm39) R1211Q probably damaging Het
Pde10a A G 17: 9,168,293 (GRCm39) K605E probably damaging Het
Pdzd2 T C 15: 12,382,708 (GRCm39) E1215G possibly damaging Het
Pex12 A G 11: 83,188,753 (GRCm39) S81P probably damaging Het
Pik3c2b C A 1: 132,994,718 (GRCm39) Y227* probably null Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prkg2 T G 5: 99,172,365 (GRCm39) S117R probably benign Het
Prl3d2 A T 13: 27,311,266 (GRCm39) E179D probably benign Het
Relch T A 1: 105,647,189 (GRCm39) L684M possibly damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Scn10a T C 9: 119,438,626 (GRCm39) T1748A possibly damaging Het
Septin10 T C 10: 59,028,000 (GRCm39) N107S possibly damaging Het
Smu1 T A 4: 40,739,550 (GRCm39) N420I probably damaging Het
Sos1 A G 17: 80,726,445 (GRCm39) F835L probably benign Het
Spg11 T C 2: 121,888,879 (GRCm39) D2164G probably damaging Het
Svbp A G 4: 119,053,127 (GRCm39) E8G probably damaging Het
Tgm3 T A 2: 129,883,899 (GRCm39) M519K probably damaging Het
Tspan12 A G 6: 21,799,876 (GRCm39) probably null Het
Vps52 T C 17: 34,177,324 (GRCm39) V122A probably damaging Het
Wipf1 T C 2: 73,264,427 (GRCm39) Y458C probably damaging Het
Zfp369 T A 13: 65,442,265 (GRCm39) D286E possibly damaging Het
Other mutations in Hoxb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3951:Hoxb2 UTSW 11 96,244,001 (GRCm39) missense probably damaging 0.98
R6950:Hoxb2 UTSW 11 96,242,727 (GRCm39) missense probably benign 0.34
R7103:Hoxb2 UTSW 11 96,244,447 (GRCm39) missense possibly damaging 0.85
R7673:Hoxb2 UTSW 11 96,244,283 (GRCm39) missense possibly damaging 0.83
R8784:Hoxb2 UTSW 11 96,242,736 (GRCm39) missense possibly damaging 0.62
R9166:Hoxb2 UTSW 11 96,244,339 (GRCm39) missense probably damaging 0.98
R9583:Hoxb2 UTSW 11 96,242,725 (GRCm39) missense probably damaging 0.97
Z1177:Hoxb2 UTSW 11 96,242,815 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02