Incidental Mutation 'R1168:Ibsp'
ID 101288
Institutional Source Beutler Lab
Gene Symbol Ibsp
Ensembl Gene ENSMUSG00000029306
Gene Name integrin binding sialoprotein
Synonyms Bsp2, bone sialoprotein, BSP, Bsp
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104447153-104459338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104450018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 6 (I6V)
Ref Sequence ENSEMBL: ENSMUSP00000031246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031246]
AlphaFold Q61711
Predicted Effect probably damaging
Transcript: ENSMUST00000031246
AA Change: I6V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: I6V

signal peptide 1 16 N/A INTRINSIC
Pfam:BSP_II 17 321 2.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177797
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight/size, delayed long bone growth and mineralization with low bone turn over due to reduced osteoclast formation, delayed intramembranous ossification, progressive periodontal breakdown, and severe alveolar and mandibular bone loss. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,661 (GRCm39) V950A probably benign Het
Adgrb3 A T 1: 25,865,280 (GRCm39) S188T probably benign Het
Ahr A T 12: 35,554,531 (GRCm39) N529K possibly damaging Het
Akr1c21 A G 13: 4,633,836 (GRCm39) N302D probably benign Het
Aldh8a1 T A 10: 21,260,530 (GRCm39) probably null Het
Alpk3 A T 7: 80,753,105 (GRCm39) K1554M probably damaging Het
Arhgef5 T A 6: 43,250,330 (GRCm39) H360Q probably benign Het
Cacna1a A G 8: 85,306,130 (GRCm39) I1293V probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cd200r4 T A 16: 44,653,307 (GRCm39) W72R probably damaging Het
Ces2e A T 8: 105,653,646 (GRCm39) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cfap54 A T 10: 92,773,782 (GRCm39) C87S probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Chrna4 T A 2: 180,675,931 (GRCm39) M67L possibly damaging Het
Cplx3 G A 9: 57,515,595 (GRCm39) R427C probably benign Het
Cts7 T A 13: 61,501,631 (GRCm39) N290Y probably damaging Het
Enpp6 A T 8: 47,483,489 (GRCm39) M94L probably damaging Het
Fam83d C T 2: 158,610,443 (GRCm39) A137V probably benign Het
Foxd2 C T 4: 114,764,875 (GRCm39) A382T possibly damaging Het
Galnt11 T G 5: 25,455,244 (GRCm39) S193R probably damaging Het
Gapvd1 A T 2: 34,594,481 (GRCm39) D856E probably damaging Het
Gclm T A 3: 122,056,337 (GRCm39) H86Q possibly damaging Het
Gipc2 T C 3: 151,813,634 (GRCm39) T220A probably benign Het
Gm12185 G T 11: 48,806,182 (GRCm39) N336K possibly damaging Het
Gm5431 A T 11: 48,786,191 (GRCm39) S61R probably benign Het
Gorasp2 C T 2: 70,518,744 (GRCm39) P260S probably damaging Het
H2-M10.6 A G 17: 37,124,052 (GRCm39) Q172R probably benign Het
Iqsec1 T C 6: 90,666,658 (GRCm39) Y593C probably damaging Het
Irag1 T C 7: 110,495,138 (GRCm39) K429R probably damaging Het
Itln1 G T 1: 171,359,119 (GRCm39) Y61* probably null Het
Kif21a G A 15: 90,877,956 (GRCm39) T284I probably damaging Het
Kif3a G A 11: 53,489,139 (GRCm39) G621R probably damaging Het
Klb A G 5: 65,536,317 (GRCm39) Y549C probably damaging Het
Lrrc37 T C 11: 103,509,776 (GRCm39) probably benign Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mastl A T 2: 23,023,144 (GRCm39) D526E probably benign Het
Mtif2 A G 11: 29,486,914 (GRCm39) D308G probably benign Het
Ncald A G 15: 37,397,578 (GRCm39) F34S probably damaging Het
Ndc1 A G 4: 107,253,009 (GRCm39) T593A probably benign Het
Ndst3 C T 3: 123,400,617 (GRCm39) V15I probably benign Het
Nup214 A G 2: 31,915,313 (GRCm39) N1166D probably benign Het
Or1a1 A G 11: 74,087,247 (GRCm39) H306R probably benign Het
Or2ad1 A G 13: 21,326,787 (GRCm39) S147P probably benign Het
Or4a68 G A 2: 89,270,213 (GRCm39) Q137* probably null Het
Or5m8 A T 2: 85,823,028 (GRCm39) Y289F probably damaging Het
Pcdhb8 T C 18: 37,489,780 (GRCm39) I486T probably benign Het
Pdzrn4 A T 15: 92,668,152 (GRCm39) Y768F probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Plcl2 G A 17: 50,914,100 (GRCm39) A370T possibly damaging Het
Pnkp T A 7: 44,511,961 (GRCm39) W115R probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 A G 8: 36,613,799 (GRCm39) E1117G probably damaging Het
Prr12 T A 7: 44,678,471 (GRCm39) Q1919L unknown Het
Ret G T 6: 118,150,519 (GRCm39) H666N possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Robo2 C T 16: 73,745,184 (GRCm39) G864S probably damaging Het
Rpa2 T G 4: 132,499,171 (GRCm39) I80S probably damaging Het
Ryk A T 9: 102,775,674 (GRCm39) D428V probably damaging Het
Slc29a1 A T 17: 45,901,204 (GRCm39) N30K probably damaging Het
Stbd1 A G 5: 92,752,795 (GRCm39) N95S probably benign Het
Tbc1d22a A G 15: 86,176,335 (GRCm39) E212G probably benign Het
Tex14 A G 11: 87,427,568 (GRCm39) T7A probably benign Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmem132b G T 5: 125,864,083 (GRCm39) V730F probably damaging Het
Tmub2 G A 11: 102,178,196 (GRCm39) G33D possibly damaging Het
Trak1 G A 9: 121,269,745 (GRCm39) D124N probably damaging Het
Ttc28 A T 5: 111,378,977 (GRCm39) Y1154F probably damaging Het
Ttn T C 2: 76,739,713 (GRCm39) T3609A probably benign Het
Tulp2 A G 7: 45,167,266 (GRCm39) T99A probably benign Het
Ugt2a2 A T 5: 87,613,427 (GRCm39) probably null Het
Ush2a G A 1: 188,410,608 (GRCm39) V2419I probably benign Het
Vill C A 9: 118,899,389 (GRCm39) P343Q probably damaging Het
Vmn2r66 T A 7: 84,656,062 (GRCm39) H318L possibly damaging Het
Wdr3 A C 3: 100,049,535 (GRCm39) N800K probably benign Het
Wdr93 A G 7: 79,398,922 (GRCm39) K19E probably damaging Het
Wrn A G 8: 33,806,436 (GRCm39) S333P probably damaging Het
Zfp418 T C 7: 7,185,500 (GRCm39) S488P possibly damaging Het
Zfp804a A G 2: 82,087,041 (GRCm39) E290G probably benign Het
Other mutations in Ibsp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Ibsp APN 5 104,457,934 (GRCm39) missense probably benign 0.27
IGL02317:Ibsp APN 5 104,450,332 (GRCm39) missense probably damaging 1.00
IGL02539:Ibsp APN 5 104,450,149 (GRCm39) missense probably damaging 0.99
IGL03236:Ibsp APN 5 104,453,871 (GRCm39) missense probably benign 0.30
crunch UTSW 5 104,457,148 (GRCm39) missense probably damaging 1.00
I2289:Ibsp UTSW 5 104,450,353 (GRCm39) missense possibly damaging 0.64
PIT4445001:Ibsp UTSW 5 104,450,170 (GRCm39) missense possibly damaging 0.94
R0049:Ibsp UTSW 5 104,450,024 (GRCm39) missense probably damaging 1.00
R0049:Ibsp UTSW 5 104,450,024 (GRCm39) missense probably damaging 1.00
R0234:Ibsp UTSW 5 104,457,935 (GRCm39) small deletion probably benign
R0610:Ibsp UTSW 5 104,458,000 (GRCm39) missense probably benign 0.07
R0656:Ibsp UTSW 5 104,457,886 (GRCm39) critical splice acceptor site probably null
R1440:Ibsp UTSW 5 104,458,405 (GRCm39) missense unknown
R1569:Ibsp UTSW 5 104,458,017 (GRCm39) missense probably damaging 1.00
R1921:Ibsp UTSW 5 104,458,078 (GRCm39) missense probably damaging 1.00
R2172:Ibsp UTSW 5 104,458,296 (GRCm39) missense probably damaging 1.00
R2879:Ibsp UTSW 5 104,458,260 (GRCm39) missense possibly damaging 0.88
R4399:Ibsp UTSW 5 104,457,148 (GRCm39) missense probably damaging 1.00
R4517:Ibsp UTSW 5 104,453,863 (GRCm39) nonsense probably null
R5417:Ibsp UTSW 5 104,458,335 (GRCm39) missense possibly damaging 0.95
R5575:Ibsp UTSW 5 104,457,925 (GRCm39) missense possibly damaging 0.78
R6183:Ibsp UTSW 5 104,453,896 (GRCm39) missense possibly damaging 0.95
R6273:Ibsp UTSW 5 104,458,167 (GRCm39) missense probably benign 0.15
R6295:Ibsp UTSW 5 104,449,987 (GRCm39) splice site probably null
R7061:Ibsp UTSW 5 104,457,768 (GRCm39) splice site probably null
R7133:Ibsp UTSW 5 104,450,172 (GRCm39) nonsense probably null
R7202:Ibsp UTSW 5 104,450,027 (GRCm39) missense probably benign 0.02
R7205:Ibsp UTSW 5 104,458,297 (GRCm39) missense probably damaging 0.99
R7769:Ibsp UTSW 5 104,458,050 (GRCm39) missense probably damaging 0.97
R7769:Ibsp UTSW 5 104,453,871 (GRCm39) missense probably benign 0.15
R8506:Ibsp UTSW 5 104,457,947 (GRCm39) missense probably damaging 1.00
R8840:Ibsp UTSW 5 104,458,006 (GRCm39) missense probably benign 0.00
R9396:Ibsp UTSW 5 104,458,297 (GRCm39) missense probably damaging 1.00
R9431:Ibsp UTSW 5 104,457,167 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15