Incidental Mutation 'R8979:Itgb1'
ID 683639
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 068812-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 129412135-129459681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129448951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 519 (E519G)
Ref Sequence ENSEMBL: ENSMUSP00000087457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090006] [ENSMUST00000124826]
AlphaFold P09055
Predicted Effect probably benign
Transcript: ENSMUST00000090006
AA Change: E519G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: E519G

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 probably benign
Transcript: ENSMUST00000149116
SMART Domains Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809

DomainStartEndE-ValueType
Pfam:Integrin_B_tail 1 39 1.9e-12 PFAM
transmembrane domain 40 62 N/A INTRINSIC
Integrin_b_cyt 63 109 8.77e-25 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,545 (GRCm39) R353S probably damaging Het
Ablim3 C T 18: 61,982,397 (GRCm39) V183I probably benign Het
Adgrb3 T A 1: 25,527,115 (GRCm39) Q607L probably benign Het
Adgrl1 A G 8: 84,665,015 (GRCm39) D1234G probably benign Het
Alms1 A G 6: 85,598,009 (GRCm39) Y945C probably damaging Het
Arhgef26 T A 3: 62,246,969 (GRCm39) W18R possibly damaging Het
Caskin1 G T 17: 24,717,899 (GRCm39) A229S possibly damaging Het
Celsr1 A T 15: 85,847,340 (GRCm39) S1466T probably damaging Het
Cftr T C 6: 18,227,947 (GRCm39) Y380H probably benign Het
Ciapin1 A T 8: 95,549,753 (GRCm39) L301Q probably damaging Het
Clec1b A G 6: 129,380,537 (GRCm39) E151G probably benign Het
Cngb1 G A 8: 96,004,913 (GRCm39) probably benign Het
Cntln T A 4: 85,048,910 (GRCm39) V240E probably damaging Het
Cog5 A G 12: 31,840,894 (GRCm39) T240A probably benign Het
Col5a3 G A 9: 20,686,597 (GRCm39) P1343S unknown Het
Cspp1 T A 1: 10,134,630 (GRCm39) S127T probably benign Het
Dnah9 T G 11: 65,895,978 (GRCm39) M2466L probably benign Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw13 A T 9: 109,013,197 (GRCm39) W247R probably damaging Het
Gbp4 G A 5: 105,267,248 (GRCm39) T557M probably benign Het
Ide G A 19: 37,302,711 (GRCm39) A133V Het
Il2rb C A 15: 78,376,052 (GRCm39) probably benign Het
Kifc1 A G 17: 34,102,228 (GRCm39) Y462H possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Llgl1 C T 11: 60,601,129 (GRCm39) A689V probably benign Het
Lrrc37a C A 11: 103,393,833 (GRCm39) V531L possibly damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mid1 G A X: 168,768,009 (GRCm39) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm39) L760F probably benign Het
Mplkipl1 A G 19: 61,164,169 (GRCm39) Y89H probably damaging Het
Mst1r C T 9: 107,792,478 (GRCm39) R951C probably damaging Het
Naalad2 G A 9: 18,242,146 (GRCm39) T586M probably damaging Het
Or4c108 C T 2: 88,804,173 (GRCm39) V21I probably benign Het
Oxct2b A G 4: 123,011,169 (GRCm39) N363S probably benign Het
Padi6 T G 4: 140,466,474 (GRCm39) N145T probably benign Het
Plcl2 T A 17: 50,947,145 (GRCm39) M1008K possibly damaging Het
Plekha5 T C 6: 140,496,818 (GRCm39) S435P probably damaging Het
Prkacb C A 3: 146,518,411 (GRCm39) G10C probably benign Het
Psg29 A T 7: 16,937,544 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Ptpro A G 6: 137,345,140 (GRCm39) I49V probably benign Het
Rassf1 A G 9: 107,429,004 (GRCm39) D70G probably benign Het
Rbm24 A T 13: 46,572,531 (GRCm39) T9S probably damaging Het
Rp1 T C 1: 4,218,937 (GRCm39) T948A unknown Het
Ryr2 A T 13: 11,609,924 (GRCm39) C4301S probably benign Het
S100pbp T C 4: 129,076,133 (GRCm39) D64G probably damaging Het
Samd3 A G 10: 26,120,428 (GRCm39) K141E possibly damaging Het
Scgb1b29 A T 7: 32,141,277 (GRCm39) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm39) T1448A possibly damaging Het
Slc51b T C 9: 65,320,210 (GRCm39) N86D probably benign Het
Slc6a3 G A 13: 73,715,720 (GRCm39) V452I probably benign Het
Sobp A G 10: 42,896,976 (GRCm39) probably null Het
Spats2 T C 15: 99,110,123 (GRCm39) S507P possibly damaging Het
Spns3 C T 11: 72,420,416 (GRCm39) A357T probably damaging Het
Suox A T 10: 128,507,367 (GRCm39) H220Q probably damaging Het
Tbc1d9b A T 11: 50,061,809 (GRCm39) S1106C probably benign Het
Tbx1 T C 16: 18,406,745 (GRCm39) D9G unknown Het
Tcaf2 A T 6: 42,601,404 (GRCm39) F885Y probably damaging Het
Tgoln1 T C 6: 72,593,262 (GRCm39) T73A probably benign Het
Tigd3 G A 19: 5,941,853 (GRCm39) P426S probably benign Het
Tmem233 T A 5: 116,221,260 (GRCm39) probably benign Het
Tnfrsf11a A G 1: 105,754,825 (GRCm39) D299G possibly damaging Het
Trim32 T C 4: 65,531,692 (GRCm39) V83A possibly damaging Het
Unc13a A T 8: 72,113,125 (GRCm39) M242K probably benign Het
Vat1 C T 11: 101,353,041 (GRCm39) G293D probably damaging Het
Vmn1r174 T A 7: 23,453,892 (GRCm39) V186D possibly damaging Het
Wdfy3 A G 5: 102,096,764 (GRCm39) Y345H probably damaging Het
Zzef1 C T 11: 72,766,003 (GRCm39) T1510I probably benign 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
R4223:Itgb1 UTSW 8 129,440,624 (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
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'- ATGTGGAGTGAGCATCCCTAC -3'
(R):5'- ACCCAGAGACTCTCAGATATCTG -3'

Sequencing Primer
(F):5'- GGAGTGAGCATCCCTACTTGATAC -3'
(R):5'- CTCATTAGAGGAACTATGTGTGTAGC -3'
Posted On 2021-10-11