Incidental Mutation 'R7965:Hoxb9'
ID 650331
Institutional Source Beutler Lab
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Name homeobox B9
Synonyms Hox-2.5
MMRRC Submission 046008-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # R7965 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96162283-96167421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96165464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 178 (N178D)
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: N178D

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: N178D

DomainStartEndE-ValueType
Pfam:Hox9_act 1 172 2.1e-59 PFAM
HOX 185 247 2.68e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174042
AA Change: Q98R

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133919
Gene: ENSMUSG00000020875
AA Change: Q98R

DomainStartEndE-ValueType
Pfam:Hox9_act 1 96 5e-42 PFAM
Meta Mutation Damage Score 0.1713 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (45/45)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,791,465 (GRCm39) T154A Het
Arhgap21 A G 2: 20,854,007 (GRCm39) I1795T probably damaging Het
Arhgef4 T C 1: 34,850,762 (GRCm39) V436A probably benign Het
Bche A T 3: 73,609,149 (GRCm39) N92K probably damaging Het
Bmp2 C T 2: 133,403,105 (GRCm39) H219Y probably benign Het
Cables1 T G 18: 11,973,269 (GRCm39) V136G probably benign Het
Cacna1d G A 14: 29,769,270 (GRCm39) R1887* probably null Het
Chrd A G 16: 20,557,903 (GRCm39) E774G probably benign Het
Chrna2 A G 14: 66,388,525 (GRCm39) *513W probably null Het
Cracr2b T C 7: 141,044,161 (GRCm39) F131S probably damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyfip1 T A 7: 55,546,523 (GRCm39) I545N possibly damaging Het
Enpp3 T A 10: 24,654,717 (GRCm39) T654S possibly damaging Het
Glce A G 9: 61,968,228 (GRCm39) S308P probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hmmr A C 11: 40,606,256 (GRCm39) probably null Het
Igkv10-94 A T 6: 68,681,595 (GRCm39) F82I probably damaging Het
Igkv1-133 A T 6: 67,702,578 (GRCm39) K99* probably null Het
Il4i1 A G 7: 44,489,819 (GRCm39) Q528R probably benign Het
Inhba G T 13: 16,201,572 (GRCm39) G378V possibly damaging Het
Katna1 T C 10: 7,614,623 (GRCm39) S44P probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Mgat4d T C 8: 84,084,722 (GRCm39) V155A possibly damaging Het
Morc2b C T 17: 33,354,746 (GRCm39) E1009K possibly damaging Het
Myo9a T A 9: 59,695,721 (GRCm39) L341H probably damaging Het
Nell2 C T 15: 95,129,216 (GRCm39) D716N probably damaging Het
Or1n2 A G 2: 36,796,953 (GRCm39) probably benign Het
Or5t16 A G 2: 86,818,707 (GRCm39) V271A probably benign Het
Or8g36 C T 9: 39,422,810 (GRCm39) V69I probably benign Het
Or8k30 A G 2: 86,338,815 (GRCm39) H4R probably benign Het
Ppp1r37 T C 7: 19,265,868 (GRCm39) T633A probably damaging Het
Prdm10 A G 9: 31,258,302 (GRCm39) K576E probably damaging Het
Prl2c5 G T 13: 13,360,469 (GRCm39) M45I probably benign Het
Rigi C A 4: 40,223,824 (GRCm39) G397* probably null Het
Rnf44 A G 13: 54,830,667 (GRCm39) S247P probably benign Het
Scn3a A G 2: 65,336,555 (GRCm39) F684L probably damaging Het
Skint2 T A 4: 112,502,648 (GRCm39) M286K probably benign Het
Slc39a9 G A 12: 80,713,450 (GRCm39) G116D probably damaging Het
Smchd1 G A 17: 71,762,621 (GRCm39) T206I possibly damaging Het
Tmem161a C T 8: 70,630,154 (GRCm39) probably benign Het
Trpm6 T A 19: 18,853,474 (GRCm39) H1831Q probably damaging Het
Trpm7 A T 2: 126,667,614 (GRCm39) H792Q probably damaging Het
Ttc6 A G 12: 57,720,542 (GRCm39) Q936R possibly damaging Het
Usp53 A T 3: 122,756,531 (GRCm39) probably null Het
Vmn1r236 T A 17: 21,507,696 (GRCm39) C271* probably null Het
Vmn2r70 T A 7: 85,211,071 (GRCm39) M547L probably damaging Het
Vwa5b1 G A 4: 138,332,800 (GRCm39) T254M probably damaging Het
Zc3h4 T C 7: 16,163,770 (GRCm39) F655S unknown Het
Zfp605 G A 5: 110,275,316 (GRCm39) G145S probably benign 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
R4420: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
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'- CAAAGCTTTGGAGATGCTTGG -3'
(R):5'- TCATCCGCCGGTTCTGAAAC -3'

Sequencing Primer
(F):5'- AATGCACTGTTCCCTTGGAG -3'
(R):5'- CTGAAACCAGATTTTGACTTGTCTC -3'
Posted On 2020-09-15