Incidental Mutation 'P0026:Fermt3'
Institutional Source Beutler Lab
Gene Symbol Fermt3
Ensembl Gene ENSMUSG00000024965
Gene Namefermitin family member 3
SynonymsKindlin-3, C79673
MMRRC Submission 038279-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0026 (G1)
Quality Score
Status Validated
Chromosomal Location6998958-7019469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7014424 bp
Amino Acid Change Serine to Proline at position 140 (S140P)
Ref Sequence ENSEMBL: ENSMUSP00000037858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772]
Predicted Effect probably damaging
Transcript: ENSMUST00000040772
AA Change: S140P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: S140P

Blast:B41 14 77 6e-32 BLAST
B41 94 556 1.66e-28 SMART
PH 350 455 2.26e-12 SMART
Meta Mutation Damage Score 0.326 question?
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 78.9%
  • 10x: 59.5%
  • 20x: 38.1%
Validation Efficiency 97% (63/65)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,453,723 N182D probably benign Het
Acad10 T C 5: 121,637,352 Y429C probably damaging Het
Aifm3 A T 16: 17,507,117 probably benign Het
Bud13 A G 9: 46,288,358 H339R probably benign Het
Cpa1 T A 6: 30,640,906 M132K probably damaging Het
Dapk1 T A 13: 60,718,149 probably benign Het
Dchs1 A T 7: 105,758,405 N2073K probably damaging Het
Dnah2 A T 11: 69,464,947 N2227K probably damaging Het
Dnpep C T 1: 75,308,685 V468I probably benign Het
Elf3 A G 1: 135,255,973 probably null Het
Fam124a T G 14: 62,606,122 L360V probably damaging Het
Fam20a A T 11: 109,675,841 probably null Het
Gm10440 T C 5: 54,356,169 noncoding transcript Het
Il12rb1 A G 8: 70,812,541 D167G probably damaging Het
Ints8 T A 4: 11,225,788 K590* probably null Het
Kcnu1 T C 8: 25,892,122 F500S probably damaging Het
Mrm3 T C 11: 76,247,500 V238A probably damaging Het
Rap1gap2 A G 11: 74,567,210 probably benign Het
Rusc2 T A 4: 43,415,840 V382E possibly damaging Het
Slc9a5 A G 8: 105,355,291 N216S probably damaging Het
Snx7 A T 3: 117,840,023 F63I probably damaging Het
Syne2 A G 12: 75,880,220 probably benign Het
Tenm4 T C 7: 96,874,527 Y1751H probably damaging Het
Trappc9 G A 15: 72,953,082 P366S probably damaging Het
Trim17 A G 11: 58,971,258 D372G possibly damaging Het
Zfp354a G A 11: 51,061,498 G85R probably null 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
IGL01748:Fermt3 APN 19 7003466 critical splice donor site probably null
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
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 On2012-11-20