Incidental Mutation 'R8878:Hoxb9'
ID 676710
Institutional Source Beutler Lab
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Name homeobox B9
Synonyms Hox-2.5
MMRRC Submission 068746-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.615) question?
Stock # R8878 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96162283-96167421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96165557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 209 (Y209H)
Ref Sequence ENSEMBL: ENSMUSP00000000010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000010] [ENSMUST00000174042]
AlphaFold P20615
Predicted Effect probably damaging
Transcript: ENSMUST00000000010
AA Change: Y209H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: Y209H

DomainStartEndE-ValueType
Pfam:Hox9_act 1 172 2.1e-59 PFAM
HOX 185 247 2.68e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000174042
AA Change: V129A
SMART Domains Protein: ENSMUSP00000133919
Gene: ENSMUSG00000020875
AA Change: V129A

DomainStartEndE-ValueType
Pfam:Hox9_act 1 96 5e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,324 (GRCm39) H348Q probably benign Het
Ago1 T A 4: 126,357,516 (GRCm39) Y53F probably benign Het
Arrdc5 A G 17: 56,601,342 (GRCm39) L261P probably benign Het
Asb2 C A 12: 103,290,138 (GRCm39) W551L possibly damaging Het
Atl2 T C 17: 80,160,232 (GRCm39) I452V probably benign Het
Atxn7l3 T C 11: 102,183,545 (GRCm39) S203G probably benign Het
Bche A G 3: 73,608,506 (GRCm39) F307L probably benign Het
C6 T C 15: 4,826,454 (GRCm39) V679A probably benign Het
Cd163 A T 6: 124,297,469 (GRCm39) N872Y probably damaging Het
Cdkal1 C A 13: 29,658,607 (GRCm39) V380F probably damaging Het
Ceacam11 A T 7: 17,709,536 (GRCm39) I245L probably benign Het
Ceacam16 G T 7: 19,592,656 (GRCm39) T84K possibly damaging Het
Ceacam2 T A 7: 25,227,351 (GRCm39) Q172L probably benign Het
Chga T G 12: 102,527,720 (GRCm39) S125A possibly damaging Het
Col9a1 T C 1: 24,236,048 (GRCm39) probably null Het
Crybg3 C A 16: 59,380,547 (GRCm39) A236S probably benign Het
Csmd1 A G 8: 15,960,528 (GRCm39) Y3296H probably damaging Het
Cyp2j8 C A 4: 96,358,807 (GRCm39) V371L possibly damaging Het
Des C A 1: 75,337,137 (GRCm39) L26M unknown Het
Edc3 A G 9: 57,623,484 (GRCm39) S140G possibly damaging Het
Fam161a C T 11: 22,970,092 (GRCm39) T90I probably benign Het
Fancm T C 12: 65,173,522 (GRCm39) Y1945H probably damaging Het
Fbn2 C T 18: 58,257,318 (GRCm39) V350I probably benign Het
Git2 A G 5: 114,899,649 (GRCm39) C235R possibly damaging Het
Gk2 T C 5: 97,604,341 (GRCm39) K166E probably benign Het
Gm12258 G A 11: 58,750,112 (GRCm39) R429H unknown Het
Gm7247 T G 14: 51,666,210 (GRCm39) probably benign Het
Gmppa A G 1: 75,414,932 (GRCm39) Y59C probably damaging Het
Has1 G T 17: 18,070,321 (GRCm39) A200E possibly damaging Het
Hbs1l T C 10: 21,234,711 (GRCm39) I588T possibly damaging Het
Helz2 A G 2: 180,874,560 (GRCm39) V1978A possibly damaging Het
Hps5 T C 7: 46,421,345 (GRCm39) D706G probably benign Het
Hydin T C 8: 111,035,720 (GRCm39) V137A probably benign Het
Ifngr2 T C 16: 91,359,847 (GRCm39) I318T probably benign Het
Iqgap3 C T 3: 88,020,532 (GRCm39) T1290I probably damaging Het
Jrk A T 15: 74,578,988 (GRCm39) V99E probably benign Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Kalrn G A 16: 34,018,830 (GRCm39) P1311S probably benign Het
Kirrel3 A G 9: 34,850,561 (GRCm39) probably benign Het
Klk1b9 T C 7: 43,443,782 (GRCm39) F99L possibly damaging Het
Lamb3 T C 1: 193,013,124 (GRCm39) C450R probably damaging Het
Lyst T A 13: 13,815,661 (GRCm39) S1182T probably benign Het
Map1a T C 2: 121,138,125 (GRCm39) V2933A probably damaging Het
Map2k5 A T 9: 63,250,667 (GRCm39) probably null Het
Mcm6 A G 1: 128,283,248 (GRCm39) probably null Het
Mmp17 G A 5: 129,683,378 (GRCm39) V505M probably damaging Het
Mpped2 A G 2: 106,575,065 (GRCm39) D50G probably damaging Het
Mtf1 T A 4: 124,715,023 (GRCm39) L216* probably null Het
Niban2 A T 2: 32,811,105 (GRCm39) M372L probably benign Het
Obscn T C 11: 58,890,638 (GRCm39) E7298G unknown Het
Or52ab7 A T 7: 102,978,212 (GRCm39) H173L possibly damaging Het
Or56a3 T C 7: 104,735,763 (GRCm39) L280P probably damaging Het
Or6c205 T C 10: 129,086,883 (GRCm39) L160P probably benign Het
Or7d9 A G 9: 20,197,358 (GRCm39) D129G probably damaging Het
Otulinl T A 15: 27,664,884 (GRCm39) H24L probably benign Het
Pax2 G A 19: 44,777,215 (GRCm39) probably null Het
Pcnt T A 10: 76,244,675 (GRCm39) E1135V probably damaging Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Polq A G 16: 36,860,869 (GRCm39) N497S probably benign Het
Ppfia4 T C 1: 134,227,122 (GRCm39) T1138A Het
Prickle4 A G 17: 48,001,587 (GRCm39) L32P Het
Prl2c2 C T 13: 13,171,896 (GRCm39) G158R probably damaging Het
Psd3 A G 8: 68,210,750 (GRCm39) I752T probably benign Het
Sag A T 1: 87,756,158 (GRCm39) Y255F probably benign Het
Scn7a A T 2: 66,506,199 (GRCm39) D1563E probably damaging Het
Secisbp2 A G 13: 51,837,404 (GRCm39) N855S probably benign Het
Setd2 T C 9: 110,421,467 (GRCm39) V2011A probably benign Het
Slc30a6 T C 17: 74,730,112 (GRCm39) V334A probably damaging Het
Spen A G 4: 141,204,520 (GRCm39) V1369A unknown Het
Stac2 T C 11: 97,932,373 (GRCm39) T207A probably benign Het
Syne2 T C 12: 75,952,067 (GRCm39) V445A probably benign Het
Tas2r131 C A 6: 132,934,467 (GRCm39) W114L probably damaging Het
Tgfbrap1 G A 1: 43,088,959 (GRCm39) R815* probably null Het
Trpv2 A T 11: 62,481,112 (GRCm39) I404L probably benign Het
Zfp236 G A 18: 82,617,122 (GRCm39) T1791M probably damaging 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
R7965:Hoxb9 UTSW 11 96,165,464 (GRCm39) missense probably benign 0.38
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'- ATGTGAGCGCACCTTCTTG -3'
(R):5'- GGAGATACTCTTCCCCACTCAC -3'

Sequencing Primer
(F):5'- CTGGGGACCTCCATTCC -3'
(R):5'- GCAGTGGCTTTTTGACCATCAC -3'
Posted On 2021-07-15