Incidental Mutation 'R0491:Itgb1bp1'
ID 42489
Institutional Source Beutler Lab
Gene Symbol Itgb1bp1
Ensembl Gene ENSMUSG00000062352
Gene Name integrin beta 1 binding protein 1
Synonyms bodenin
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0491 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 21317247-21336285 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 21326896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000076260] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
AlphaFold O35671
Predicted Effect unknown
Transcript: ENSMUST00000076260
AA Change: V26L
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: V26L

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172834
AA Change: V26L
SMART Domains Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352
AA Change: V26L

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 unknown
Transcript: ENSMUST00000173729
AA Change: V26L
SMART Domains Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: V26L

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
PTB 58 200 1.42e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000232072
AA Change: V26L
Meta Mutation Damage Score 0.1667 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clec12a T A 6: 129,341,016 (GRCm39) D265E probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpy19l2 T C 9: 24,607,324 (GRCm39) R46G probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mmp11 G A 10: 75,762,592 (GRCm39) A287V probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Ntpcr C T 8: 126,464,093 (GRCm39) R73* probably null Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Utp20 A T 10: 88,596,774 (GRCm39) F2115L probably damaging Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably 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
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
Predicted Primers PCR Primer
(F):5'- GTGAACACTGCCTAAGTGCCTACC -3'
(R):5'- GCCTCAGCCTGAAGATGCCAATATC -3'

Sequencing Primer
(F):5'- ACCAAACTGTGGTGCATTTCTG -3'
(R):5'- caattcccagcaaccacatag -3'
Posted On 2013-05-23