Incidental Mutation 'IGL01669:Itgb3'
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ID103430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb3
Ensembl Gene ENSMUSG00000020689
Gene Nameintegrin beta 3
SynonymsCD61, platelet glycoprotein IIIa (GP3A)
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL01669
Quality Score
Status
Chromosome11
Chromosomal Location104608000-104670476 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 104633390 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021028]
Predicted Effect probably benign
Transcript: ENSMUST00000021028
SMART Domains Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
PSI 29 75 4.43e-5 SMART
INB 37 460 3.16e-276 SMART
VWA 136 395 8.65e-2 SMART
Pfam:EGF_2 511 546 6.8e-7 PFAM
Pfam:EGF_2 553 583 8.1e-7 PFAM
Integrin_B_tail 633 717 1.07e-28 SMART
Integrin_b_cyt 741 787 1.78e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Itgb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Itgb3 APN 11 104633584 missense probably damaging 1.00
IGL01460:Itgb3 APN 11 104662394 nonsense probably null
IGL01615:Itgb3 APN 11 104643965 missense probably damaging 1.00
IGL02057:Itgb3 APN 11 104632348 missense probably damaging 1.00
IGL02192:Itgb3 APN 11 104643939 missense probably benign
IGL02604:Itgb3 APN 11 104662443 missense probably damaging 0.99
IGL02708:Itgb3 APN 11 104637829 missense possibly damaging 0.60
IGL02901:Itgb3 APN 11 104637946 missense probably benign 0.18
IGL03288:Itgb3 APN 11 104633467 missense probably damaging 1.00
R0042:Itgb3 UTSW 11 104667140 missense possibly damaging 0.80
R0042:Itgb3 UTSW 11 104667140 missense possibly damaging 0.80
R0123:Itgb3 UTSW 11 104637088 missense probably damaging 1.00
R0125:Itgb3 UTSW 11 104643963 missense probably damaging 1.00
R0637:Itgb3 UTSW 11 104658876 missense probably benign 0.02
R2017:Itgb3 UTSW 11 104637962 missense possibly damaging 0.70
R2045:Itgb3 UTSW 11 104623413 missense probably benign
R2200:Itgb3 UTSW 11 104640986 splice site probably null
R2225:Itgb3 UTSW 11 104665510 missense probably benign 0.00
R2429:Itgb3 UTSW 11 104637088 missense probably damaging 1.00
R3820:Itgb3 UTSW 11 104633612 nonsense probably null
R4863:Itgb3 UTSW 11 104665520 missense probably damaging 1.00
R5116:Itgb3 UTSW 11 104641077 missense probably benign 0.20
R5301:Itgb3 UTSW 11 104633654 splice site probably null
R5933:Itgb3 UTSW 11 104637979 missense possibly damaging 0.63
R6361:Itgb3 UTSW 11 104665582 missense possibly damaging 0.72
R6436:Itgb3 UTSW 11 104633492 missense probably damaging 0.99
R6452:Itgb3 UTSW 11 104633464 nonsense probably null
R7196:Itgb3 UTSW 11 104633612 nonsense probably null
R7438:Itgb3 UTSW 11 104643577 missense possibly damaging 0.90
R8006:Itgb3 UTSW 11 104665496 missense possibly damaging 0.56
R8068:Itgb3 UTSW 11 104665511 missense probably benign 0.35
R8378:Itgb3 UTSW 11 104642316 missense possibly damaging 0.95
Z1176:Itgb3 UTSW 11 104643623 missense possibly damaging 0.46
Posted On2014-01-21