Incidental Mutation 'IGL02820:Itgb1bp1'
ID 360958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb1bp1
Ensembl Gene ENSMUSG00000062352
Gene Name integrin beta 1 binding protein 1
Synonyms bodenin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02820
Quality Score
Status
Chromosome 12
Chromosomal Location 21317247-21336285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21326854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 40 (A40T)
Ref Sequence ENSEMBL: ENSMUSP00000156312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076260] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold O35671
Predicted Effect possibly damaging
Transcript: ENSMUST00000076260
AA Change: A40T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: A40T

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172834
AA Change: A40T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352
AA Change: A40T

DomainStartEndE-ValueType
Pfam:ICAP-1_inte_bdg 1 183 5.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173614
Predicted Effect probably benign
Transcript: ENSMUST00000173688
SMART Domains Protein: ENSMUSP00000133557
Gene: ENSMUSG00000062352

DomainStartEndE-ValueType
Pfam:ICAP-1_inte_bdg 1 79 1.1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173729
AA Change: A40T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: A40T

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000232072
AA Change: A40T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, reduced weight and length, reduced ossification, and skull and skeleton abnormalities. Mice homozygous for a gene trap mutation are viable and do not exhibit any obvious abnormalites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,124,417 (GRCm39) Y86C probably benign Het
Adgra2 G A 8: 27,607,535 (GRCm39) V47M probably damaging Het
Anks1b T C 10: 89,912,921 (GRCm39) C349R possibly damaging Het
Anks4b A T 7: 119,781,914 (GRCm39) probably benign Het
Apobec2 A G 17: 48,730,295 (GRCm39) S124P probably damaging Het
Brd8 G A 18: 34,740,354 (GRCm39) S493L probably benign Het
Cbln3 A G 14: 56,120,944 (GRCm39) Y126H probably damaging Het
Ccdc138 T C 10: 58,364,721 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ceacam2 T A 7: 25,219,411 (GRCm39) H283L probably damaging Het
Cfap251 A G 5: 123,392,699 (GRCm39) probably benign Het
Clasp1 A G 1: 118,478,834 (GRCm39) D718G possibly damaging Het
Clmn A T 12: 104,739,493 (GRCm39) Y979N probably damaging Het
Ddias T C 7: 92,508,551 (GRCm39) T455A probably benign Het
Dennd5b T C 6: 148,920,840 (GRCm39) R851G probably null Het
Dock1 T C 7: 134,768,944 (GRCm39) V1771A probably benign Het
Dysf T A 6: 84,077,187 (GRCm39) L694Q probably damaging Het
Faim2 T C 15: 99,419,138 (GRCm39) Y77C probably benign Het
Fbxw22 A T 9: 109,215,732 (GRCm39) I172N probably damaging Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Fyb1 T G 15: 6,688,040 (GRCm39) V800G possibly damaging Het
Gcm1 T C 9: 77,971,844 (GRCm39) F262L probably benign Het
Gm21983 T C 7: 26,879,605 (GRCm39) M121V probably benign Het
Gm9996 A T 10: 29,019,657 (GRCm39) probably benign Het
Gstm3 A T 3: 107,876,074 (GRCm39) probably benign Het
Gsto2 G T 19: 47,863,398 (GRCm39) E91D probably damaging Het
Hs6st3 G T 14: 119,376,492 (GRCm39) M222I possibly damaging Het
Ighv3-6 T C 12: 114,251,850 (GRCm39) D90G probably damaging Het
Kcns3 C T 12: 11,141,872 (GRCm39) E276K probably benign Het
Lamc3 C T 2: 31,813,034 (GRCm39) R1007C probably damaging Het
Lnx2 A T 5: 146,978,877 (GRCm39) M125K probably damaging Het
Lyst T A 13: 13,812,643 (GRCm39) N1018K probably benign Het
Mctp2 T A 7: 71,895,290 (GRCm39) S186C probably damaging Het
Or1j20 A T 2: 36,759,871 (GRCm39) T98S probably benign Het
Polg T C 7: 79,109,519 (GRCm39) T433A possibly damaging Het
Rdh13 C T 7: 4,438,059 (GRCm39) V127M probably damaging Het
Rdh16 A G 10: 127,649,470 (GRCm39) T309A probably benign Het
Reep5 A T 18: 34,506,312 (GRCm39) D21E probably benign Het
Rptn A T 3: 93,304,227 (GRCm39) N520I probably benign Het
Rttn T C 18: 89,047,122 (GRCm39) L928P probably damaging Het
Slc44a2 A G 9: 21,254,273 (GRCm39) I212V probably benign Het
Snupn A G 9: 56,870,332 (GRCm39) T71A probably benign Het
Ssu2 T C 6: 112,359,353 (GRCm39) N89S probably benign Het
Thsd7a A G 6: 12,321,071 (GRCm39) S1535P probably damaging Het
Tmt1a C A 15: 100,202,933 (GRCm39) S51* probably null Het
Uba7 A T 9: 107,858,715 (GRCm39) S849C probably benign Het
Vmn2r80 A G 10: 79,007,439 (GRCm39) T472A probably benign Het
Wdr6 A G 9: 108,455,743 (GRCm39) I17T probably benign Het
Xkr9 G A 1: 13,771,173 (GRCm39) V230I probably benign Het
Other mutations in Itgb1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01831:Itgb1bp1 APN 12 21,329,469 (GRCm39) missense unknown
IGL02812:Itgb1bp1 APN 12 21,320,879 (GRCm39) splice site probably benign
IGL03046:Itgb1bp1 UTSW 12 21,329,436 (GRCm39) missense unknown
R0491:Itgb1bp1 UTSW 12 21,326,896 (GRCm39) unclassified probably benign
R0511:Itgb1bp1 UTSW 12 21,321,436 (GRCm39) missense probably damaging 1.00
R2158:Itgb1bp1 UTSW 12 21,326,860 (GRCm39) missense probably damaging 1.00
R4476:Itgb1bp1 UTSW 12 21,320,957 (GRCm39) missense probably benign 0.01
R4596:Itgb1bp1 UTSW 12 21,322,135 (GRCm39) missense probably damaging 1.00
R4991:Itgb1bp1 UTSW 12 21,324,849 (GRCm39) missense probably damaging 1.00
R7128:Itgb1bp1 UTSW 12 21,322,089 (GRCm39) missense probably benign 0.07
R8963:Itgb1bp1 UTSW 12 21,324,864 (GRCm39) missense probably damaging 1.00
R9435:Itgb1bp1 UTSW 12 21,320,943 (GRCm39) missense possibly damaging 0.62
R9748:Itgb1bp1 UTSW 12 21,324,876 (GRCm39) missense probably damaging 1.00
R9753:Itgb1bp1 UTSW 12 21,326,890 (GRCm39) missense unknown
Posted On 2015-12-18