Incidental Mutation 'IGL01748:Fermt3'
ID153078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fermt3
Ensembl Gene ENSMUSG00000024965
Gene Namefermitin family member 3
SynonymsKindlin-3, C79673
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01748
Quality Score
Status
Chromosome19
Chromosomal Location6998958-7019469 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 7003466 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000088223]
Predicted Effect probably null
Transcript: ENSMUST00000040772
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

DomainStartEndE-ValueType
Blast:B41 14 77 6e-32 BLAST
B41 94 556 1.66e-28 SMART
PH 350 455 2.26e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088223
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656

DomainStartEndE-ValueType
Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
PHENOTYPE: Disruption of this marker results in lethality in the first week after birth, abnormal erythropoiesis and platelet function, and severe hemorrhage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,548,357 probably benign Het
Asb1 G A 1: 91,552,286 V236I probably damaging Het
Bod1l G A 5: 41,816,961 R2337C probably benign Het
Foxred2 T C 15: 77,952,346 D323G probably damaging Het
Fry A G 5: 150,345,651 probably benign Het
Galnt11 T A 5: 25,247,515 Y8* probably null Het
Gm42688 T A 6: 83,103,020 S275T possibly damaging Het
Grip2 C T 6: 91,764,743 G934R probably damaging Het
Igkv1-122 G T 6: 68,017,472 V115F possibly damaging Het
Iglon5 C T 7: 43,476,529 probably benign Het
Nbl1 G T 4: 139,083,610 probably benign Het
Nup107 A G 10: 117,757,274 V833A probably benign Het
Olfr1287 T C 2: 111,449,530 L130P probably damaging Het
Psg18 T C 7: 18,353,551 N61D probably benign Het
Rfng A G 11: 120,783,743 M104T probably benign Het
Scn10a A G 9: 119,627,084 F1224S probably damaging Het
Strn4 C T 7: 16,838,302 P647S probably damaging Het
Tbc1d2 A G 4: 46,616,306 V474A probably damaging Het
Trav13n-4 A T 14: 53,364,013 T80S probably benign Het
Trrap A G 5: 144,833,340 E2757G probably damaging Het
Vmn1r43 G T 6: 89,870,312 T64N probably damaging Het
Vmn2r108 A T 17: 20,463,214 I576N probably benign Het
Vmn2r65 A T 7: 84,940,299 I803N probably damaging Het
Zfp341 T C 2: 154,628,927 V288A probably damaging Het
Other mutations in Fermt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Fermt3 APN 19 7003258 unclassified probably null
IGL01724:Fermt3 APN 19 7001775 missense probably damaging 0.99
IGL02392:Fermt3 APN 19 7018815 missense probably benign 0.35
IGL02956:Fermt3 APN 19 7002344 missense probably benign 0.40
IGL03146:Fermt3 APN 19 7003263 missense possibly damaging 0.88
IGL03216:Fermt3 APN 19 6999380 missense probably benign 0.00
P0026:Fermt3 UTSW 19 7014424 missense probably damaging 0.99
R0180:Fermt3 UTSW 19 7002343 missense possibly damaging 0.76
R0445:Fermt3 UTSW 19 7003299 missense probably benign 0.29
R1202:Fermt3 UTSW 19 7003482 missense probably damaging 1.00
R1475:Fermt3 UTSW 19 7018874 intron probably null
R1668:Fermt3 UTSW 19 7018692 missense probably damaging 1.00
R2179:Fermt3 UTSW 19 7014414 missense probably benign 0.14
R2311:Fermt3 UTSW 19 7014162 missense probably damaging 0.97
R3976:Fermt3 UTSW 19 7002424 missense possibly damaging 0.74
R4087:Fermt3 UTSW 19 7003577 critical splice acceptor site probably null
R4667:Fermt3 UTSW 19 7002920 missense probably damaging 1.00
R6108:Fermt3 UTSW 19 7014414 missense probably benign 0.14
R6452:Fermt3 UTSW 19 7014737 missense probably benign 0.00
R6994:Fermt3 UTSW 19 6999727 missense probably damaging 1.00
Posted On2014-02-04