Incidental Mutation 'IGL01831:Itgb1bp1'
ID 154781
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 # IGL01831
Quality Score
Status
Chromosome 12
Chromosomal Location 21317247-21336285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21329469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 2 (F2I)
Ref Sequence ENSEMBL: ENSMUSP00000156312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076260] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold O35671
Predicted Effect unknown
Transcript: ENSMUST00000076260
AA Change: F2I
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: F2I

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172834
AA Change: F2I
SMART Domains Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352
AA Change: F2I

DomainStartEndE-ValueType
Pfam:ICAP-1_inte_bdg 1 183 5.1e-115 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173729
AA Change: F2I
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: F2I

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000232072
AA Change: F2I
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,903,187 (GRCm39) D596Y probably damaging Het
Atr A G 9: 95,752,807 (GRCm39) R626G probably benign Het
Edem3 T C 1: 151,671,833 (GRCm39) F394S probably damaging Het
Galk2 C A 2: 125,817,277 (GRCm39) N344K probably benign Het
Gm20507 T C 17: 33,861,038 (GRCm39) probably benign Het
Igkv2-112 A T 6: 68,197,481 (GRCm39) Y50F possibly damaging Het
Klhl6 C T 16: 19,772,235 (GRCm39) C370Y probably damaging Het
Or56b1 T G 7: 104,285,267 (GRCm39) Y129D probably damaging Het
Or6c70 T C 10: 129,709,900 (GRCm39) H242R probably damaging Het
Pja2 A T 17: 64,616,402 (GRCm39) H164Q probably benign Het
Plau T A 14: 20,887,838 (GRCm39) probably benign Het
Snx4 C T 16: 33,104,792 (GRCm39) R247* probably null Het
Other mutations in Itgb1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02812:Itgb1bp1 APN 12 21,320,879 (GRCm39) splice site probably benign
IGL02820:Itgb1bp1 APN 12 21,326,854 (GRCm39) missense possibly damaging 0.94
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 2014-02-04