Incidental Mutation 'R4666:Hoxb9'
ID 351953
Institutional Source Beutler Lab
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Name homeobox B9
Synonyms Hox-2.5
MMRRC Submission 041924-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R4666 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96271457-96276595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96274831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 242 (K242R)
Ref Sequence ENSEMBL: ENSMUSP00000000010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000010] [ENSMUST00000174042]
AlphaFold P20615
Predicted Effect possibly damaging
Transcript: ENSMUST00000000010
AA Change: K242R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: K242R

Pfam:Hox9_act 1 172 2.1e-59 PFAM
HOX 185 247 2.68e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174042
SMART Domains Protein: ENSMUSP00000133919
Gene: ENSMUSG00000020875

Pfam:Hox9_act 1 96 5e-42 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations affect developing thoracic skeletal elements. Homozygotes exhibit rib fusion, abnormal rib attachment to the sternum, and reduced intercostal segments of the sternum. Homozygotes or heterozygotes may show an eighth rib attached to the sternum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 36,978,902 (GRCm38) S12L probably benign Het
4921507P07Rik G T 6: 50,595,828 (GRCm38) T35K possibly damaging Het
4931406P16Rik T C 7: 34,284,773 (GRCm38) M142V probably damaging Het
Abce1 A G 8: 79,687,486 (GRCm38) V532A probably damaging Het
Adamts12 T A 15: 11,311,492 (GRCm38) N1278K probably benign Het
Adipor1 T A 1: 134,424,905 (GRCm38) I138N probably damaging Het
Aox2 C T 1: 58,304,597 (GRCm38) Q480* probably null Het
Arhgef38 C T 3: 133,140,772 (GRCm38) probably null Het
Atmin A G 8: 116,957,959 (GRCm38) D786G probably damaging Het
Capn1 A T 19: 6,011,015 (GRCm38) N253K probably benign Het
Cdh8 T C 8: 99,024,902 (GRCm38) T728A possibly damaging Het
Celsr1 A G 15: 86,030,494 (GRCm38) S1093P probably damaging Het
Cep135 C A 5: 76,616,854 (GRCm38) P560T probably benign Het
Chfr C T 5: 110,144,867 (GRCm38) Q167* probably null Het
Chrna4 A G 2: 181,037,493 (GRCm38) S54P probably damaging Het
Cntln A G 4: 84,971,216 (GRCm38) N312S probably benign Het
Cntn6 A G 6: 104,728,284 (GRCm38) E154G probably benign Het
Col6a6 T A 9: 105,767,342 (GRCm38) Y1249F possibly damaging Het
Cpsf2 T C 12: 101,983,207 (GRCm38) S61P probably damaging Het
Cpvl C T 6: 53,931,933 (GRCm38) E282K probably benign Het
Cryba2 C T 1: 74,890,048 (GRCm38) D179N probably benign Het
Daglb A T 5: 143,503,349 (GRCm38) R654W probably damaging Het
Dennd3 A G 15: 73,570,860 (GRCm38) D1244G probably damaging Het
Dhx57 T C 17: 80,274,961 (GRCm38) E405G probably damaging Het
Dnah10 T C 5: 124,828,472 (GRCm38) M4060T possibly damaging Het
Dph1 A G 11: 75,181,330 (GRCm38) S238P probably damaging Het
Duox1 C T 2: 122,319,475 (GRCm38) P116S probably benign Het
Ebf1 A G 11: 44,991,557 (GRCm38) N447D probably damaging Het
Epg5 A G 18: 78,012,864 (GRCm38) N1751S probably benign Het
Exoc6 A G 19: 37,570,505 (GRCm38) D75G probably damaging Het
Extl2 T A 3: 116,024,207 (GRCm38) I70N probably damaging Het
Fam129c G T 8: 71,603,825 (GRCm38) E390* probably null Het
Fanca T C 8: 123,268,972 (GRCm38) T1364A probably damaging Het
Fbln7 T A 2: 128,894,910 (GRCm38) probably null Het
Foxa3 G T 7: 19,014,372 (GRCm38) C275* probably null Het
Foxred1 C T 9: 35,210,855 (GRCm38) probably benign Het
Galr2 A G 11: 116,283,629 (GRCm38) T362A probably benign Het
Garem2 C A 5: 30,114,667 (GRCm38) R376S probably damaging Het
Gatc T A 5: 115,335,547 (GRCm38) N111I probably benign Het
Gjb4 C A 4: 127,351,778 (GRCm38) K123N probably damaging Het
Gm14025 T C 2: 129,038,230 (GRCm38) H592R probably benign Het
Gm9894 T C 13: 67,765,094 (GRCm38) noncoding transcript Het
Gtdc1 T C 2: 44,591,925 (GRCm38) N301S probably benign Het
Gtf2ird1 T A 5: 134,383,902 (GRCm38) E55V probably damaging Het
Gtsf1 T C 15: 103,421,205 (GRCm38) I96V probably benign Het
Homer1 T A 13: 93,402,159 (GRCm38) I170N probably damaging Het
Homer3 G A 8: 70,290,143 (GRCm38) probably null Het
Ifna14 T C 4: 88,571,336 (GRCm38) R155G probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,318,408 (GRCm38) probably benign Het
Lsm11 A G 11: 45,933,813 (GRCm38) S296P probably damaging Het
Macrod2 T C 2: 142,217,599 (GRCm38) L265P probably damaging Het
Mcu G A 10: 59,456,699 (GRCm38) L53F probably damaging Het
Mpv17l2 A G 8: 70,760,415 (GRCm38) V104A possibly damaging Het
Myh10 G A 11: 68,801,730 (GRCm38) probably null Het
Nemf T C 12: 69,312,280 (GRCm38) E1031G probably damaging Het
Nhsl1 G A 10: 18,531,405 (GRCm38) S1395N probably damaging Het
Nlrp2 T A 7: 5,319,189 (GRCm38) I82F probably benign Het
Nlrp4e T A 7: 23,336,780 (GRCm38) L686* probably null Het
Nudt12os T A 17: 59,024,551 (GRCm38) noncoding transcript Het
Olfr1122 T A 2: 87,387,876 (GRCm38) I57K probably damaging Het
Olfr16 G A 1: 172,957,590 (GRCm38) S265N probably benign Het
Olfr180 T C 16: 58,916,584 (GRCm38) D19G probably benign Het
Olfr205 A G 16: 59,329,210 (GRCm38) Y100H possibly damaging Het
Olfr93 A T 17: 37,151,379 (GRCm38) S44T possibly damaging Het
Olfr944 T A 9: 39,217,846 (GRCm38) M163K probably damaging Het
Pde7a T C 3: 19,260,256 (GRCm38) T59A probably damaging Het
Pde7b A C 10: 20,438,750 (GRCm38) D203E probably damaging Het
Phkg2 T A 7: 127,577,984 (GRCm38) I94N possibly damaging Het
Pik3r2 G A 8: 70,768,859 (GRCm38) T667I possibly damaging Het
Pitx3 T A 19: 46,137,101 (GRCm38) H68L possibly damaging Het
Prcd A G 11: 116,668,164 (GRCm38) probably benign Het
Prune2 C T 19: 17,120,188 (GRCm38) R1019* probably null Het
Psap A G 10: 60,300,545 (GRCm38) D486G probably benign Het
Purb A T 11: 6,475,615 (GRCm38) V91E probably damaging Het
Recql C A 6: 142,376,841 (GRCm38) V112F probably damaging Het
Rptor A T 11: 119,743,882 (GRCm38) I175F probably damaging Het
Sbf1 C T 15: 89,295,246 (GRCm38) V1385M probably damaging Het
Serpinb13 C T 1: 106,982,844 (GRCm38) S66L probably damaging Het
Slc35f6 T C 5: 30,655,613 (GRCm38) L37P probably damaging Het
Slc6a3 T A 13: 73,538,581 (GRCm38) N22K possibly damaging Het
Sorl1 A T 9: 42,004,051 (GRCm38) M1294K probably damaging Het
Sp6 C A 11: 97,021,875 (GRCm38) A138E probably benign Het
Spag8 G T 4: 43,653,408 (GRCm38) probably benign Het
Spon1 T A 7: 114,028,969 (GRCm38) M320K probably benign Het
Tceanc2 A T 4: 107,165,560 (GRCm38) S77T probably damaging Het
Thsd7a T A 6: 12,504,013 (GRCm38) I381F possibly damaging Het
Thsd7a T A 6: 12,337,314 (GRCm38) T1235S possibly damaging Het
Tmc4 T C 7: 3,671,271 (GRCm38) probably null Het
Tmprss11d T C 5: 86,309,401 (GRCm38) D133G probably damaging Het
Trav13n-3 T A 14: 53,337,496 (GRCm38) V65D probably damaging Het
Trpm1 G T 7: 64,203,034 (GRCm38) L65F probably damaging Het
Tyk2 C T 9: 21,114,207 (GRCm38) A741T probably damaging Het
Ube2v1 T A 2: 167,610,377 (GRCm38) Y102F probably damaging Het
Uckl1 A T 2: 181,574,868 (GRCm38) S95T possibly damaging Het
Uhrf1bp1 G T 17: 27,893,503 (GRCm38) W1222L possibly damaging Het
Vcan C A 13: 89,679,934 (GRCm38) W2171L probably damaging Het
Vmn1r64 T C 7: 5,884,358 (GRCm38) N62S probably damaging Het
Vmn2r67 T C 7: 85,150,623 (GRCm38) D469G probably benign Het
Vps13b A G 15: 35,640,544 (GRCm38) S1352G probably benign Het
Zbtb38 C T 9: 96,688,383 (GRCm38) R216H probably damaging Het
Other mutations in Hoxb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Hoxb9 APN 11 96,274,788 (GRCm38) nonsense probably null
IGL02251:Hoxb9 APN 11 96,274,825 (GRCm38) missense probably damaging 1.00
IGL02738:Hoxb9 APN 11 96,274,728 (GRCm38) missense possibly damaging 0.87
R1467:Hoxb9 UTSW 11 96,271,938 (GRCm38) missense probably benign
R1467:Hoxb9 UTSW 11 96,271,938 (GRCm38) missense probably benign
R1958:Hoxb9 UTSW 11 96,272,054 (GRCm38) missense possibly damaging 0.88
R4419:Hoxb9 UTSW 11 96,271,981 (GRCm38) missense probably benign 0.00
R4420:Hoxb9 UTSW 11 96,271,981 (GRCm38) missense probably benign 0.00
R7627:Hoxb9 UTSW 11 96,274,695 (GRCm38) missense probably damaging 0.99
R7821:Hoxb9 UTSW 11 96,271,711 (GRCm38) missense probably damaging 1.00
R7965:Hoxb9 UTSW 11 96,274,638 (GRCm38) missense probably benign 0.38
R8878:Hoxb9 UTSW 11 96,274,731 (GRCm38) missense probably damaging 1.00
R9259:Hoxb9 UTSW 11 96,271,936 (GRCm38) missense probably damaging 1.00
R9502:Hoxb9 UTSW 11 96,271,718 (GRCm38) missense probably benign 0.21
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08