Incidental Mutation 'R3855:Itgb3bp'
ID 276098
Institutional Source Beutler Lab
Gene Symbol Itgb3bp
Ensembl Gene ENSMUSG00000028549
Gene Name integrin beta 3 binding protein (beta3-endonexin)
Synonyms 4930471O16Rik
MMRRC Submission 040901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3855 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 99655643-99717403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99686957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 76 (E76G)
Ref Sequence ENSEMBL: ENSMUSP00000117153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146258]
AlphaFold Q9CQ82
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123830
Predicted Effect possibly damaging
Transcript: ENSMUST00000146258
AA Change: E76G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117153
Gene: ENSMUSG00000028549
AA Change: E76G

DomainStartEndE-ValueType
Pfam:CENP-R 25 162 1e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146739
Meta Mutation Damage Score 0.2589 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna A T 4: 63,291,705 (GRCm39) S1144R probably damaging Het
Apbb1ip T C 2: 22,765,187 (GRCm39) S623P unknown Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Ccnq T C 11: 78,642,013 (GRCm39) N159S probably benign Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Cog2 T C 8: 125,256,742 (GRCm39) probably null Het
Dennd4c G A 4: 86,698,084 (GRCm39) V191M probably damaging Het
Dthd1 T A 5: 62,984,472 (GRCm39) H392Q probably benign Het
Dthd1 T C 5: 63,045,366 (GRCm39) V710A probably benign Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm4868 A G 5: 125,925,609 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,232,260 (GRCm39) E648G probably damaging Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Khk A G 5: 31,084,401 (GRCm39) D82G probably benign Het
Kif17 A G 4: 138,018,821 (GRCm39) S533G probably benign Het
Kmt2a A G 9: 44,741,796 (GRCm39) probably benign Het
Kmt5c T C 7: 4,749,255 (GRCm39) F104S probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Nbas T A 12: 13,329,415 (GRCm39) I120N possibly damaging Het
Nfia A G 4: 97,951,259 (GRCm39) H362R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nme5 A G 18: 34,702,884 (GRCm39) S135P possibly damaging Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Nufip2 T C 11: 77,583,715 (GRCm39) V543A probably damaging Het
Or1l4b A T 2: 37,036,835 (GRCm39) I204F possibly damaging Het
Or2y10 A G 11: 49,454,918 (GRCm39) T57A probably damaging Het
Otog T C 7: 45,923,184 (GRCm39) S1020P possibly damaging Het
Pear1 T C 3: 87,659,228 (GRCm39) H814R possibly damaging Het
Pkd1l1 A G 11: 8,915,047 (GRCm39) probably null Het
Pla2g4a T A 1: 149,705,928 (GRCm39) I711F possibly damaging Het
Ppig G A 2: 69,579,719 (GRCm39) V418I unknown Het
Prg4 T C 1: 150,327,751 (GRCm39) Y234C probably damaging Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sepsecs G A 5: 52,821,616 (GRCm39) R74C probably damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Sox11 C A 12: 27,391,501 (GRCm39) G303C probably damaging Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign Het
Xylt1 T G 7: 117,192,777 (GRCm39) L361R probably damaging Het
Zfp512 A G 5: 31,637,593 (GRCm39) R505G possibly damaging Het
Other mutations in Itgb3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Itgb3bp APN 4 99,690,373 (GRCm39) missense probably null 0.13
IGL03190:Itgb3bp APN 4 99,677,923 (GRCm39) splice site probably benign
IGL03375:Itgb3bp APN 4 99,657,724 (GRCm39) splice site probably benign
R0437:Itgb3bp UTSW 4 99,670,126 (GRCm39) missense probably damaging 1.00
R0739:Itgb3bp UTSW 4 99,690,433 (GRCm39) missense probably benign 0.19
R1017:Itgb3bp UTSW 4 99,657,724 (GRCm39) splice site probably benign
R2005:Itgb3bp UTSW 4 99,702,295 (GRCm39) missense probably benign 0.00
R7104:Itgb3bp UTSW 4 99,702,335 (GRCm39) missense probably damaging 0.99
R7304:Itgb3bp UTSW 4 99,657,758 (GRCm39) missense probably damaging 0.99
X0020:Itgb3bp UTSW 4 99,669,041 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAGACCTAGGCTCGATGAA -3'
(R):5'- GGCTTCATTTTCTACCCTGTGTCAG -3'

Sequencing Primer
(F):5'- TGCAAGACACCACAAATACTTTTC -3'
(R):5'- TCAGGCCATGCATGTCAGACTAG -3'
Posted On 2015-04-06