Incidental Mutation 'R2158:Itgb1bp1'
ID 234999
Institutional Source Beutler Lab
Gene Symbol Itgb1bp1
Ensembl Gene ENSMUSG00000062352
Gene Name integrin beta 1 binding protein 1
Synonyms bodenin
MMRRC Submission 040161-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2158 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 21317247-21336285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21326860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 38 (T38A)
Ref Sequence ENSEMBL: ENSMUSP00000134508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076260] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold O35671
Predicted Effect probably damaging
Transcript: ENSMUST00000076260
AA Change: T38A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: T38A

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172834
AA Change: T38A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352
AA Change: T38A

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 probably damaging
Transcript: ENSMUST00000173729
AA Change: T38A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: T38A

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000232072
AA Change: T38A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.5001 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,766,608 (GRCm39) V65A possibly damaging Het
4930402F06Rik A T 2: 35,275,680 (GRCm39) S38T possibly damaging Het
Adam4 A G 12: 81,468,537 (GRCm39) L28S probably damaging Het
Agmo T A 12: 37,407,709 (GRCm39) F198I probably damaging Het
Akap7 A G 10: 25,047,062 (GRCm39) V45A probably damaging Het
Amotl1 G T 9: 14,486,465 (GRCm39) N476K probably benign Het
Apcs A G 1: 172,722,100 (GRCm39) L82P probably damaging Het
Armc3 C A 2: 19,253,444 (GRCm39) P195Q probably damaging Het
Astn2 A T 4: 66,322,491 (GRCm39) L36Q unknown Het
Atad2 A T 15: 57,961,962 (GRCm39) S870T possibly damaging Het
Bmp10 A T 6: 87,411,062 (GRCm39) D285V probably benign Het
Caskin1 T C 17: 24,724,128 (GRCm39) V972A probably benign Het
Ccdc141 T A 2: 76,861,015 (GRCm39) N921Y probably damaging Het
Cntnap5b A T 1: 100,318,297 (GRCm39) D1019V probably damaging Het
Eml5 T C 12: 98,810,205 (GRCm39) probably benign Het
Evi5l T C 8: 4,243,195 (GRCm39) Y360H probably damaging Het
Ewsr1 A G 11: 5,041,450 (GRCm39) probably benign Het
Fn3k A T 11: 121,339,712 (GRCm39) N158I probably damaging Het
Galnt17 C T 5: 130,935,540 (GRCm39) R381Q probably damaging Het
Golga3 A T 5: 110,335,227 (GRCm39) K180N probably damaging Het
Hipk1 A G 3: 103,667,854 (GRCm39) L571P probably damaging Het
Hormad2 T A 11: 4,374,808 (GRCm39) K69* probably null Het
Hspg2 A T 4: 137,244,915 (GRCm39) D880V probably damaging Het
Ido2 T A 8: 25,030,652 (GRCm39) D226V probably damaging Het
Irs3 A G 5: 137,642,961 (GRCm39) F159S probably damaging Het
Kif11 A G 19: 37,399,062 (GRCm39) I749V probably benign Het
Lrp1b T G 2: 40,769,567 (GRCm39) M2811L probably benign Het
Lysmd3 A G 13: 81,817,737 (GRCm39) Y238C probably damaging Het
Mapk11 G A 15: 89,030,575 (GRCm39) T106M probably damaging Het
Mdga2 C T 12: 66,736,155 (GRCm39) V358I possibly damaging Het
Muc4 C T 16: 32,754,563 (GRCm38) T1479I probably benign Het
Myom1 T C 17: 71,371,592 (GRCm39) V578A possibly damaging Het
Nek10 T G 14: 14,885,047 (GRCm38) probably null Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or2t47 T A 11: 58,442,768 (GRCm39) Q99L probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or51a24 T G 7: 103,734,033 (GRCm39) T85P probably benign Het
Or51v14 G C 7: 103,261,443 (GRCm39) T39R possibly damaging Het
Or52a5b G T 7: 103,417,168 (GRCm39) C145* probably null Het
Or8d23 T C 9: 38,841,875 (GRCm39) M136T probably damaging Het
Pde4dip A T 3: 97,664,937 (GRCm39) C333S probably benign Het
Pglyrp2 T A 17: 32,637,222 (GRCm39) I269F probably benign Het
Plch1 A G 3: 63,628,655 (GRCm39) V536A probably benign Het
Popdc2 T A 16: 38,183,188 (GRCm39) L57Q probably damaging Het
Pramel14 T C 4: 143,720,885 (GRCm39) R19G possibly damaging Het
Riox1 A G 12: 83,997,709 (GRCm39) K82E probably benign Het
Rnasel G A 1: 153,630,647 (GRCm39) V388M probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Snx25 A G 8: 46,494,444 (GRCm39) S814P probably damaging Het
Spta1 A T 1: 174,056,824 (GRCm39) H1859L probably benign Het
Strc T C 2: 121,196,343 (GRCm39) I1562V probably benign Het
Taar5 T A 10: 23,846,986 (GRCm39) I128N probably damaging Het
Ttc28 C T 5: 111,325,483 (GRCm39) probably benign Het
Vcan A T 13: 89,851,648 (GRCm39) M1104K possibly damaging Het
Vnn1 C T 10: 23,776,653 (GRCm39) Q335* probably null Het
Zic1 T C 9: 91,246,946 (GRCm39) D42G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCTGAAATTTCCAGAAGTGGC -3'
(R):5'- GGCTGTCGAAAATGTCTTTAGCC -3'

Sequencing Primer
(F):5'- CTGAAATTTCCAGAAGTGGCAGAGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
Posted On 2014-10-01