Incidental Mutation 'R1017:Itgb3bp'
ID 96418
Institutional Source Beutler Lab
Gene Symbol Itgb3bp
Ensembl Gene ENSMUSG00000028549
Gene Name integrin beta 3 binding protein (beta3-endonexin)
Synonyms 4930471O16Rik
MMRRC Submission 039121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1017 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 99655643-99717403 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 99657724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000146258
SMART Domains Protein: ENSMUSP00000117153
Gene: ENSMUSG00000028549

DomainStartEndE-ValueType
Pfam:CENP-R 25 162 1e-63 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp C T 6: 125,038,223 (GRCm39) probably benign Het
Ahnak A T 19: 8,987,907 (GRCm39) I3064F probably damaging Het
Arhgef10l C A 4: 140,242,617 (GRCm39) R884L probably damaging Het
Baiap2l2 A G 15: 79,145,443 (GRCm39) F317L probably benign Het
Brinp2 A T 1: 158,077,021 (GRCm39) I358N probably damaging Het
Ccin A G 4: 43,985,222 (GRCm39) D543G probably benign Het
Cdh23 T A 10: 60,167,572 (GRCm39) D1806V probably damaging Het
Cdh6 C T 15: 13,051,562 (GRCm39) R357Q probably benign Het
Cpa3 T C 3: 20,293,797 (GRCm39) M64V possibly damaging Het
Ctnnb1 T A 9: 120,779,794 (GRCm39) F74I probably damaging Het
Cyp7a1 A T 4: 6,272,307 (GRCm39) I302N probably damaging Het
Dnase1l2 C T 17: 24,661,446 (GRCm39) A56T probably benign Het
Dscam T A 16: 96,634,633 (GRCm39) D190V probably damaging Het
Fer1l4 T C 2: 155,891,398 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm10306 A G 4: 94,444,957 (GRCm39) probably benign Het
Gon4l T A 3: 88,765,803 (GRCm39) M409K probably benign Het
Gsx2 T C 5: 75,237,923 (GRCm39) S292P probably damaging Het
Hira T A 16: 18,718,097 (GRCm39) probably null Het
Hoxa3 G T 6: 52,149,386 (GRCm39) probably null Het
Irak3 T C 10: 119,978,789 (GRCm39) E554G possibly damaging Het
Kifc3 C T 8: 95,832,413 (GRCm39) D379N probably damaging Het
Lama5 A G 2: 179,837,213 (GRCm39) V1032A probably damaging Het
Lmln T G 16: 32,908,546 (GRCm39) I324R probably benign Het
Ltbp4 A G 7: 27,005,501 (GRCm39) S1547P possibly damaging Het
Mdga1 T A 17: 30,069,522 (GRCm39) T175S probably damaging Het
Mrps6 T A 16: 91,855,346 (GRCm39) L8* probably null Het
Mtmr11 A C 3: 96,071,794 (GRCm39) T203P probably damaging Het
Nat8f7 T C 6: 85,684,552 (GRCm39) D96G probably damaging Het
Obscn T C 11: 58,889,179 (GRCm39) E7531G unknown Het
Or2k2 A T 4: 58,785,115 (GRCm39) S202R probably damaging Het
Or8k25 A T 2: 86,243,855 (GRCm39) D180E probably damaging Het
Or8k27 A T 2: 86,275,772 (GRCm39) L185I probably benign Het
Osbpl6 A G 2: 76,380,063 (GRCm39) Y69C probably damaging Het
Polrmt C T 10: 79,579,343 (GRCm39) W136* probably null Het
Raver1 T C 9: 20,990,886 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rsl1d1 T C 16: 11,021,116 (GRCm39) K2E probably benign Het
Sik3 C T 9: 46,107,107 (GRCm39) T417I probably benign Het
Spdl1 T C 11: 34,710,117 (GRCm39) K388R possibly damaging Het
Tulp1 T C 17: 28,583,277 (GRCm39) R88G probably damaging Het
Vldlr A C 19: 27,218,733 (GRCm39) Y528S probably damaging Het
Zdhhc14 T A 17: 5,543,924 (GRCm39) L68H probably damaging Het
Zfp605 C T 5: 110,275,860 (GRCm39) T326I probably benign 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
R2005:Itgb3bp UTSW 4 99,702,295 (GRCm39) missense probably benign 0.00
R3855:Itgb3bp UTSW 4 99,686,957 (GRCm39) missense possibly damaging 0.90
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'- ACATAGCACAACGTGGTGATGCAG -3'
(R):5'- TCAGGAACATGGAGTCCAGCACAG -3'

Sequencing Primer
(F):5'- CAGTCTGTATGCTACAGCCAG -3'
(R):5'- tgaagagagtgtccagtccc -3'
Posted On 2014-01-05