Incidental Mutation 'R4420:Hoxb9'
ID 327061
Institutional Source Beutler Lab
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Name homeobox B9
Synonyms Hox-2.5
MMRRC Submission 041141-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.615) question?
Stock # R4420 (G1)
Quality Score 155
Status Validated
Chromosome 11
Chromosomal Location 96162283-96167421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96162807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 147 (V147A)
Ref Sequence ENSEMBL: ENSMUSP00000000010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000010] [ENSMUST00000174042]
AlphaFold P20615
Predicted Effect probably benign
Transcript: ENSMUST00000000010
AA Change: V147A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: V147A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Hox9_act 1 96 5e-42 PFAM
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (53/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef17 G A 7: 100,531,515 (GRCm39) probably benign Het
Atp1b1 T C 1: 164,281,127 (GRCm39) T53A probably damaging Het
Carmil3 A G 14: 55,731,045 (GRCm39) Q104R probably damaging Het
Casz1 T G 4: 149,033,375 (GRCm39) N1382K possibly damaging Het
Chfr T A 5: 110,318,746 (GRCm39) C585* probably null Het
Chp2 T C 7: 121,821,161 (GRCm39) F174S probably damaging Het
Dclre1c A T 2: 3,434,782 (GRCm39) probably null Het
Dnah6 A G 6: 73,168,462 (GRCm39) V487A probably benign Het
Dnah9 T C 11: 66,009,575 (GRCm39) R771G probably benign Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Elp3 G A 14: 65,818,240 (GRCm39) A140V probably damaging Het
Fbrsl1 T C 5: 110,526,852 (GRCm39) H387R possibly damaging Het
Gnat3 T C 5: 18,204,799 (GRCm39) S151P probably damaging Het
Gucy1a2 T A 9: 3,634,640 (GRCm39) L228H probably damaging Het
Gzmn A T 14: 56,403,463 (GRCm39) H215Q probably benign Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hsf5 T G 11: 87,548,130 (GRCm39) H604Q probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Il12rb2 G T 6: 67,293,394 (GRCm39) probably null Het
Irs1 T C 1: 82,266,171 (GRCm39) S682G possibly damaging Het
Jcad T C 18: 4,676,032 (GRCm39) S1265P probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Matk A G 10: 81,098,291 (GRCm39) S361G possibly damaging Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Nceh1 A G 3: 27,295,798 (GRCm39) D353G probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Pcdh7 T C 5: 58,286,512 (GRCm39) I1196T probably benign Het
Pla2g4d A G 2: 120,114,644 (GRCm39) V29A probably benign Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Prdx5 C A 19: 6,885,332 (GRCm39) probably null Het
Psme4 C T 11: 30,762,028 (GRCm39) T456I possibly damaging Het
Ptprd A T 4: 75,957,614 (GRCm39) S923R possibly damaging Het
Samd12 G A 15: 53,723,655 (GRCm39) R13W probably damaging Het
Slc35f4 A T 14: 49,551,034 (GRCm39) probably benign Het
Smc1b A G 15: 84,997,031 (GRCm39) Y530H probably damaging Het
Spata2l T C 8: 123,960,768 (GRCm39) T174A possibly damaging Het
Sugct C T 13: 17,627,130 (GRCm39) C241Y probably damaging Het
Tarbp1 G T 8: 127,173,819 (GRCm39) A965D possibly damaging Het
Tas1r3 A G 4: 155,946,789 (GRCm39) V272A probably damaging Het
Tas2r117 T A 6: 132,780,312 (GRCm39) L150* probably null Het
Trip10 C T 17: 57,562,448 (GRCm39) P322L probably benign Het
Wdfy3 A C 5: 102,058,850 (GRCm39) H1487Q probably damaging Het
Wdr95 G A 5: 149,456,131 (GRCm39) V8M probably damaging Het
Zc3h15 C A 2: 83,488,356 (GRCm39) A98E probably damaging Het
Zfp763 T G 17: 33,237,455 (GRCm39) K563N probably benign Het
Zmym2 G A 14: 57,194,335 (GRCm39) D1198N probably damaging Het
Zp1 C T 19: 10,892,124 (GRCm39) probably null Het
Other mutations in Hoxb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Hoxb9 APN 11 96,165,614 (GRCm39) nonsense probably null
IGL02251:Hoxb9 APN 11 96,165,651 (GRCm39) missense probably damaging 1.00
IGL02738:Hoxb9 APN 11 96,165,554 (GRCm39) missense possibly damaging 0.87
R1467:Hoxb9 UTSW 11 96,162,764 (GRCm39) missense probably benign
R1467:Hoxb9 UTSW 11 96,162,764 (GRCm39) missense probably benign
R1958:Hoxb9 UTSW 11 96,162,880 (GRCm39) missense possibly damaging 0.88
R4419:Hoxb9 UTSW 11 96,162,807 (GRCm39) missense probably benign 0.00
R4666:Hoxb9 UTSW 11 96,165,657 (GRCm39) missense possibly damaging 0.94
R7627:Hoxb9 UTSW 11 96,165,521 (GRCm39) missense probably damaging 0.99
R7821:Hoxb9 UTSW 11 96,162,537 (GRCm39) missense probably damaging 1.00
R7965:Hoxb9 UTSW 11 96,165,464 (GRCm39) missense probably benign 0.38
R8878:Hoxb9 UTSW 11 96,165,557 (GRCm39) missense probably damaging 1.00
R9259:Hoxb9 UTSW 11 96,162,762 (GRCm39) missense probably damaging 1.00
R9502:Hoxb9 UTSW 11 96,162,544 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TCGATCATAAGTCACGAGAGC -3'
(R):5'- ACATTGTCCGCTTTATGGCC -3'

Sequencing Primer
(F):5'- AAGTTTCCTTCGGGCCAGTACG -3'
(R):5'- GGGGGATTTCCTCACTTTT -3'
Posted On 2015-07-07