Incidental Mutation 'R0491:Itgb1bp1'
Institutional Source Beutler Lab
Gene Symbol Itgb1bp1
Ensembl Gene ENSMUSG00000062352
Gene Nameintegrin beta 1 binding protein 1
MMRRC Submission 038689-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0491 (G1)
Quality Score225
Status Validated
Chromosomal Location21240825-21286284 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 21276895 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000076260] [ENSMUST00000172834] [ENSMUST00000173729] [ENSMUST00000232072]
Predicted Effect unknown
Transcript: ENSMUST00000076260
AA Change: V26L
SMART Domains Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: V26L

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

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

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

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
2410089E03Rik T A 15: 8,182,243 S356T probably damaging Het
Abca13 T C 11: 9,298,235 F2661L probably benign Het
Acadsb A G 7: 131,430,107 D224G probably benign Het
Acsm1 A G 7: 119,640,697 H288R probably damaging Het
Adamts2 A G 11: 50,776,630 D465G probably damaging Het
Akap9 A T 5: 3,972,851 probably benign Het
Alms1 A G 6: 85,702,600 T3240A probably damaging Het
Ap3d1 A G 10: 80,719,241 W417R probably damaging Het
Arfgef1 C A 1: 10,179,987 probably benign Het
Atf6 A G 1: 170,787,344 probably null Het
Cacna1s T A 1: 136,089,008 probably benign Het
Clcn1 T C 6: 42,310,581 F740L probably benign Het
Clec12a T A 6: 129,364,053 D265E probably benign Het
Clic3 T A 2: 25,457,785 probably benign Het
Cntnap3 T G 13: 64,762,045 T749P probably benign Het
Col11a2 T A 17: 34,042,212 D45E probably null Het
Crxos T A 7: 15,898,535 S89T probably benign Het
Cxcr1 G T 1: 74,192,309 P185T possibly damaging Het
Cyp20a1 T A 1: 60,371,327 N262K possibly damaging Het
Dpy19l2 T C 9: 24,696,028 R46G probably benign Het
Dpysl2 A T 14: 66,807,962 L454Q probably damaging Het
Dvl3 C T 16: 20,527,423 probably benign Het
Eppin T A 2: 164,589,412 E98V possibly damaging Het
Fancm A T 12: 65,106,061 H1097L probably benign Het
Fkbp4 A G 6: 128,435,742 I75T probably damaging Het
Fmn2 A G 1: 174,581,959 H586R unknown Het
Gm973 C T 1: 59,558,234 probably benign Het
Haus6 A C 4: 86,602,846 V185G possibly damaging Het
Herc2 T A 7: 56,122,366 C1098S possibly damaging Het
Hic1 C A 11: 75,166,310 L584F possibly damaging Het
Kbtbd2 G A 6: 56,780,389 R121* probably null Het
Lgr4 C T 2: 110,007,281 probably benign Het
Lrrc55 T C 2: 85,191,920 E309G probably damaging Het
Mertk T C 2: 128,793,107 probably null Het
Micu3 A G 8: 40,366,253 probably benign Het
Mmp11 G A 10: 75,926,758 A287V probably benign Het
Mpzl2 A G 9: 45,042,741 Y47C probably damaging Het
Muc5b A C 7: 141,862,015 R2899S probably benign Het
Myo1b A G 1: 51,755,698 Y1078H probably benign Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Ncapd3 T G 9: 27,057,883 V611G probably damaging Het
Ntpcr C T 8: 125,737,354 R73* probably null Het
Olfr1225 A T 2: 89,170,360 V284E probably benign Het
Olfr1475 G A 19: 13,479,493 A235V probably damaging Het
Osbp2 A G 11: 3,714,709 F88S probably damaging Het
Pkn3 A T 2: 30,089,877 T711S probably damaging Het
Plekhm1 T C 11: 103,394,776 K278E probably benign Het
Ppp1r36 A G 12: 76,439,291 T408A probably benign Het
Prss41 T C 17: 23,842,503 T105A possibly damaging Het
Psme1 G T 14: 55,579,921 probably benign Het
Ptprq A T 10: 107,608,175 Y1523N probably damaging Het
Ric8b A G 10: 84,992,222 D470G probably damaging Het
Scarb1 A G 5: 125,298,731 probably benign Het
Slc25a54 G A 3: 109,102,796 A204T probably damaging Het
Spink10 T C 18: 62,659,965 C67R probably damaging Het
St5 T A 7: 109,557,204 Q113L probably benign Het
Tmtc1 A T 6: 148,412,640 probably null Het
Tprkb A G 6: 85,924,464 D28G probably benign Het
Ttll13 A G 7: 80,260,350 H747R probably benign Het
Usp24 A G 4: 106,402,105 S1608G probably benign Het
Utp20 A T 10: 88,760,912 F2115L probably damaging Het
Vmn1r200 A T 13: 22,395,191 I46L probably benign Het
Zdhhc8 A T 16: 18,228,390 M103K probably damaging Het
Zfp595 C T 13: 67,317,305 G298E probably damaging Het
Zfp738 T G 13: 67,670,021 H617P possibly damaging Het
Zfp9 A T 6: 118,465,202 H166Q probably damaging Het
Zp3r C A 1: 130,618,334 D80Y probably damaging Het
Other mutations in Itgb1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01831:Itgb1bp1 APN 12 21279468 missense unknown
IGL02812:Itgb1bp1 APN 12 21270878 splice site probably benign
IGL02820:Itgb1bp1 APN 12 21276853 missense possibly damaging 0.94
IGL03046:Itgb1bp1 UTSW 12 21279435 missense unknown
R0511:Itgb1bp1 UTSW 12 21271435 missense probably damaging 1.00
R2158:Itgb1bp1 UTSW 12 21276859 missense probably damaging 1.00
R4476:Itgb1bp1 UTSW 12 21270956 missense probably benign 0.01
R4596:Itgb1bp1 UTSW 12 21272134 missense probably damaging 1.00
R4991:Itgb1bp1 UTSW 12 21274848 missense probably damaging 1.00
R7128:Itgb1bp1 UTSW 12 21272088 missense probably benign 0.07
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- caattcccagcaaccacatag -3'
Posted On2013-05-23