Incidental Mutation 'R4223:Itgb1'
ID 319462
Institutional Source Beutler Lab
Gene Symbol Itgb1
Ensembl Gene ENSMUSG00000025809
Gene Name integrin beta 1 (fibronectin receptor beta)
Synonyms Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik
MMRRC Submission 041043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4223 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 129412135-129459681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 129440624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 255 (I255S)
Ref Sequence ENSEMBL: ENSMUSP00000087457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090006] [ENSMUST00000124826]
AlphaFold P09055
Predicted Effect probably damaging
Transcript: ENSMUST00000090006
AA Change: I255S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: I255S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PSI 26 76 3.01e-7 SMART
INB 34 464 2e-298 SMART
VWA 142 372 1.45e0 SMART
low complexity region 568 581 N/A INTRINSIC
Pfam:EGF_2 599 630 8.8e-8 PFAM
Integrin_B_tail 640 728 4.58e-37 SMART
transmembrane domain 729 751 N/A INTRINSIC
Integrin_b_cyt 752 798 3.43e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124826
SMART Domains Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:3VI4|D 21 51 2e-16 PDB
Blast:PSI 26 51 1e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135281
Meta Mutation Damage Score 0.9621 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A G 10: 78,930,286 (GRCm39) Y43H probably damaging Het
Aamp A T 1: 74,320,285 (GRCm39) L348Q probably damaging Het
Abcb1b T A 5: 8,863,722 (GRCm39) L226M probably damaging Het
Acap1 A G 11: 69,774,511 (GRCm39) S396P probably damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Atp1a3 T C 7: 24,700,355 (GRCm39) D48G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm39) noncoding transcript Het
Ccdc116 A G 16: 16,964,809 (GRCm39) probably benign Het
Cmtm5 T A 14: 55,175,376 (GRCm39) C51S probably damaging Het
Cyb5rl T C 4: 106,938,185 (GRCm39) V214A probably damaging Het
Cyp4x1 A T 4: 114,970,077 (GRCm39) I350N probably damaging Het
Efcab6 C A 15: 83,751,309 (GRCm39) D1498Y probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Epha3 G A 16: 63,403,902 (GRCm39) S733L probably damaging Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Galnt1 T C 18: 24,371,413 (GRCm39) F4L probably benign Het
Glis1 T C 4: 107,425,042 (GRCm39) S218P probably benign Het
Gm15854 A T 6: 129,949,426 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,361,236 (GRCm39) noncoding transcript Het
Inpp5a T C 7: 139,138,821 (GRCm39) V263A possibly damaging Het
Kcp A G 6: 29,482,257 (GRCm39) L1547P possibly damaging Het
Kifc3 C A 8: 95,836,610 (GRCm39) L72F probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrrc55 G A 2: 85,026,460 (GRCm39) A188V possibly damaging Het
Ly6i A T 15: 74,854,884 (GRCm39) S9T probably benign Het
Mfsd14b C T 13: 65,214,422 (GRCm39) probably benign Het
Nipsnap3a T A 4: 52,997,251 (GRCm39) D172E probably benign Het
Or4g7 A T 2: 111,309,489 (GRCm39) Y120F probably benign Het
Oxgr1 T C 14: 120,260,025 (GRCm39) K61E probably damaging Het
Pak2 G T 16: 31,871,028 (GRCm39) N51K probably benign Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pcolce T A 5: 137,603,389 (GRCm39) probably benign Het
Phc3 A T 3: 30,990,968 (GRCm39) S383R probably damaging Het
Phf1 C T 17: 27,156,474 (GRCm39) R539* probably null Het
Plch1 G A 3: 63,609,321 (GRCm39) T48I probably damaging Het
Plekha2 A G 8: 25,533,036 (GRCm39) S312P probably damaging Het
Pnpla7 T C 2: 24,872,126 (GRCm39) F69L possibly damaging Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Rfc3 C A 5: 151,574,637 (GRCm39) probably benign Het
Rpa2 T G 4: 132,504,055 (GRCm39) I69S probably damaging Het
Rtn4 G A 11: 29,656,856 (GRCm39) V337I probably benign Het
Rttn T C 18: 89,113,708 (GRCm39) L1709P probably damaging Het
Sh2b2 G A 5: 136,247,907 (GRCm39) P548L possibly damaging Het
Slc12a2 T A 18: 58,043,328 (GRCm39) S591T probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc38a9 G A 13: 112,850,782 (GRCm39) probably null Het
Slc9a4 T C 1: 40,658,286 (GRCm39) V603A probably damaging Het
Snx19 T G 9: 30,339,744 (GRCm39) V294G possibly damaging Het
Sp140l2 T C 1: 85,090,278 (GRCm39) D83G probably damaging Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Strn3 C T 12: 51,674,638 (GRCm39) R382Q probably damaging Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Trps1 A G 15: 50,710,044 (GRCm39) V98A probably benign Het
Vmn1r220 T A 13: 23,368,148 (GRCm39) M183L probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Xirp2 A T 2: 67,346,837 (GRCm39) E3026V possibly damaging Het
Other mutations in Itgb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Itgb1 APN 8 129,440,399 (GRCm39) splice site probably benign
IGL01407:Itgb1 APN 8 129,449,315 (GRCm39) missense probably benign 0.08
IGL03025:Itgb1 APN 8 129,449,065 (GRCm39) missense possibly damaging 0.96
Drystacked UTSW 8 129,458,535 (GRCm39) missense possibly damaging 0.79
Jumble UTSW 8 129,440,597 (GRCm39) missense probably damaging 1.00
PIT4377001:Itgb1 UTSW 8 129,436,864 (GRCm39) missense probably damaging 1.00
R0136:Itgb1 UTSW 8 129,449,335 (GRCm39) missense possibly damaging 0.96
R0244:Itgb1 UTSW 8 129,444,166 (GRCm39) splice site probably benign
R0483:Itgb1 UTSW 8 129,452,648 (GRCm39) missense possibly damaging 0.79
R0606:Itgb1 UTSW 8 129,448,853 (GRCm39) unclassified probably benign
R0657:Itgb1 UTSW 8 129,449,335 (GRCm39) missense possibly damaging 0.96
R0865:Itgb1 UTSW 8 129,436,732 (GRCm39) critical splice acceptor site probably null
R1052:Itgb1 UTSW 8 129,439,786 (GRCm39) missense probably damaging 1.00
R1429:Itgb1 UTSW 8 129,444,157 (GRCm39) critical splice donor site probably null
R1589:Itgb1 UTSW 8 129,431,940 (GRCm39) missense possibly damaging 0.95
R1589:Itgb1 UTSW 8 129,431,939 (GRCm39) missense probably damaging 0.99
R1614:Itgb1 UTSW 8 129,446,546 (GRCm39) missense probably damaging 1.00
R1672:Itgb1 UTSW 8 129,458,526 (GRCm39) missense probably damaging 1.00
R1723:Itgb1 UTSW 8 129,452,519 (GRCm39) missense probably damaging 0.98
R1865:Itgb1 UTSW 8 129,446,938 (GRCm39) missense probably benign 0.01
R3786:Itgb1 UTSW 8 129,439,839 (GRCm39) missense probably damaging 1.00
R4756:Itgb1 UTSW 8 129,443,703 (GRCm39) missense probably damaging 0.98
R4826:Itgb1 UTSW 8 129,446,789 (GRCm39) missense probably damaging 1.00
R4880:Itgb1 UTSW 8 129,442,631 (GRCm39) missense probably damaging 1.00
R5202:Itgb1 UTSW 8 129,446,491 (GRCm39) missense probably damaging 0.99
R5682:Itgb1 UTSW 8 129,453,549 (GRCm39) splice site probably null
R5935:Itgb1 UTSW 8 129,439,718 (GRCm39) nonsense probably null
R6156:Itgb1 UTSW 8 129,458,535 (GRCm39) missense possibly damaging 0.79
R6160:Itgb1 UTSW 8 129,446,764 (GRCm39) missense possibly damaging 0.95
R6248:Itgb1 UTSW 8 129,448,902 (GRCm39) missense possibly damaging 0.80
R6812:Itgb1 UTSW 8 129,431,891 (GRCm39) splice site probably null
R6869:Itgb1 UTSW 8 129,446,516 (GRCm39) missense probably benign 0.01
R7249:Itgb1 UTSW 8 129,446,885 (GRCm39) missense probably benign 0.28
R7496:Itgb1 UTSW 8 129,446,786 (GRCm39) missense probably benign
R7679:Itgb1 UTSW 8 129,446,929 (GRCm39) missense probably damaging 0.99
R7787:Itgb1 UTSW 8 129,453,499 (GRCm39) missense probably benign 0.32
R7800:Itgb1 UTSW 8 129,439,718 (GRCm39) missense possibly damaging 0.89
R8015:Itgb1 UTSW 8 129,448,882 (GRCm39) missense possibly damaging 0.79
R8687:Itgb1 UTSW 8 129,442,697 (GRCm39) missense probably damaging 1.00
R8709:Itgb1 UTSW 8 129,439,887 (GRCm39) intron probably benign
R8979:Itgb1 UTSW 8 129,448,951 (GRCm39) missense probably benign 0.05
R9243:Itgb1 UTSW 8 129,433,587 (GRCm39) missense probably benign 0.36
R9389:Itgb1 UTSW 8 129,433,637 (GRCm39) missense probably benign
R9398:Itgb1 UTSW 8 129,452,605 (GRCm39) missense probably damaging 1.00
Z1088:Itgb1 UTSW 8 129,439,850 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGAGAAAACTGTGATGCCG -3'
(R):5'- TGCAATGATTACAGACACCCGAG -3'

Sequencing Primer
(F):5'- CTGTGATGCCGTATATTAGCACAACC -3'
(R):5'- TGATTACAGACACCCGAGAAAGCAG -3'
Posted On 2015-06-10