Incidental Mutation 'R4476:Itgb1bp1'
ID 386386
Institutional Source Beutler Lab
Gene Symbol Itgb1bp1
Ensembl Gene ENSMUSG00000062352
Gene Name integrin beta 1 binding protein 1
Synonyms bodenin
MMRRC Submission 041733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4476 (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 21320957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 178 (E178G)
Ref Sequence ENSEMBL: ENSMUSP00000156312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000076260] [ENSMUST00000090834] [ENSMUST00000101562] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold O35671
Predicted Effect probably benign
Transcript: ENSMUST00000050990
SMART Domains Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
PH 306 399 2.31e-18 SMART
ArfGap 421 541 6.82e-27 SMART
ANK 584 616 6.17e-1 SMART
ANK 620 649 4.03e-5 SMART
ANK 653 683 1.48e3 SMART
low complexity region 693 707 N/A INTRINSIC
low complexity region 765 789 N/A INTRINSIC
low complexity region 827 847 N/A INTRINSIC
SH3 896 954 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064595
SMART Domains Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632

DomainStartEndE-ValueType
Pfam:BAR 11 247 2.4e-9 PFAM
Pfam:BAR_3 31 265 3.3e-28 PFAM
PH 306 399 2.31e-18 SMART
ArfGap 421 541 6.82e-27 SMART
ANK 584 616 6.17e-1 SMART
ANK 620 649 4.03e-5 SMART
ANK 653 683 1.48e3 SMART
low complexity region 693 707 N/A INTRINSIC
low complexity region 765 789 N/A INTRINSIC
low complexity region 837 849 N/A INTRINSIC
low complexity region 872 892 N/A INTRINSIC
SH3 941 999 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076260
AA Change: E178G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: E178G

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090834
SMART Domains Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
Blast:PH 196 318 1e-50 BLAST
Blast:ArfGap 334 395 5e-30 BLAST
ANK 438 470 6.17e-1 SMART
ANK 474 503 4.03e-5 SMART
ANK 507 537 1.48e3 SMART
low complexity region 547 561 N/A INTRINSIC
low complexity region 619 643 N/A INTRINSIC
low complexity region 681 701 N/A INTRINSIC
SH3 750 808 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101562
SMART Domains Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632

DomainStartEndE-ValueType
low complexity region 127 144 N/A INTRINSIC
low complexity region 154 166 N/A INTRINSIC
PH 309 402 2.31e-18 SMART
ArfGap 424 544 6.82e-27 SMART
ANK 587 619 6.17e-1 SMART
ANK 623 652 4.03e-5 SMART
ANK 656 686 1.48e3 SMART
low complexity region 696 710 N/A INTRINSIC
low complexity region 768 792 N/A INTRINSIC
low complexity region 830 850 N/A INTRINSIC
SH3 899 957 4.28e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172834
SMART Domains Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352

DomainStartEndE-ValueType
Pfam:ICAP-1_inte_bdg 1 183 5.1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173614
Predicted Effect probably benign
Transcript: ENSMUST00000173729
AA Change: E178G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: E178G

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
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 benign
Transcript: ENSMUST00000232072
AA Change: E178G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.7067 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (41/42)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,882,787 (GRCm39) R275G probably damaging Het
Actc1 T C 2: 113,879,707 (GRCm39) T251A probably benign Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Arsb C T 13: 93,944,103 (GRCm39) R265C probably damaging Het
Cntn6 A G 6: 104,749,522 (GRCm39) E319G probably damaging Het
Cracr2a T A 6: 127,606,782 (GRCm39) N275K probably benign Het
Crispld1 G T 1: 17,817,734 (GRCm39) W212C probably damaging Het
Exosc10 G A 4: 148,649,781 (GRCm39) D404N probably damaging Het
Gfpt2 T C 11: 49,715,169 (GRCm39) V388A probably benign Het
Gm14401 C T 2: 176,778,570 (GRCm39) R219* probably null Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Kidins220 C T 12: 25,061,000 (GRCm39) S826L probably damaging Het
Krt90 T C 15: 101,465,718 (GRCm39) D301G probably damaging Het
Me3 T A 7: 89,389,068 (GRCm39) V124E probably damaging Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Neto1 A T 18: 86,422,798 (GRCm39) D85V probably damaging Het
Or12k8 G A 2: 36,975,073 (GRCm39) S229L probably damaging Het
Or13a24 T C 7: 140,154,842 (GRCm39) Y259H probably damaging Het
Or4g7 T A 2: 111,310,009 (GRCm39) D293E possibly damaging Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Pkd1 A G 17: 24,795,500 (GRCm39) E2331G probably damaging Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Rab23 A G 1: 33,763,973 (GRCm39) probably benign Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Sox18 T C 2: 181,312,669 (GRCm39) K154R probably damaging Het
Tanc1 A G 2: 59,672,340 (GRCm39) probably null Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Zfp667 A G 7: 6,307,598 (GRCm39) K89E 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
R2158:Itgb1bp1 UTSW 12 21,326,860 (GRCm39) missense probably damaging 1.00
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'- TTTAGAAAACCGGGTCAGGG -3'
(R):5'- TAGCCCCAGCCATTACTGTC -3'

Sequencing Primer
(F):5'- GGGCATTACACCCTCTAATAGTC -3'
(R):5'- CAGCCATTACTGTCTGCTGGAG -3'
Posted On 2016-05-20