Incidental Mutation 'IGL02392:Fermt3'
ID 294287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fermt3
Ensembl Gene ENSMUSG00000024965
Gene Name fermitin family member 3
Synonyms C79673, Kindlin-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02392
Quality Score
Status
Chromosome 19
Chromosomal Location 6976326-6996837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6996183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 4 (M4K)
Ref Sequence ENSEMBL: ENSMUSP00000037858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025918] [ENSMUST00000040772]
AlphaFold Q8K1B8
Predicted Effect probably benign
Transcript: ENSMUST00000025918
SMART Domains Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966

DomainStartEndE-ValueType
TPR 4 37 3.07e-5 SMART
TPR 38 71 1.63e0 SMART
TPR 72 105 5.87e-2 SMART
STI1 130 169 4.84e-1 SMART
low complexity region 192 220 N/A INTRINSIC
TPR 225 258 7.45e-4 SMART
TPR 259 292 1.1e-1 SMART
TPR 300 333 1.09e-5 SMART
TPR 360 393 1.07e-4 SMART
TPR 394 427 9.45e-6 SMART
TPR 428 461 3.29e-5 SMART
STI1 492 531 1.66e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040772
AA Change: M4K

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: M4K

DomainStartEndE-ValueType
Blast:B41 14 77 6e-32 BLAST
B41 94 556 1.66e-28 SMART
PH 350 455 2.26e-12 SMART
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
C2cd6 T C 1: 59,133,997 (GRCm39) N8S probably benign Het
Cdh8 G A 8: 99,757,387 (GRCm39) T737M probably damaging Het
Celsr3 T C 9: 108,711,920 (GRCm39) probably benign Het
Cenph T A 13: 100,909,269 (GRCm39) Q46L probably benign Het
Dlg5 A G 14: 24,200,277 (GRCm39) C1395R probably damaging Het
Dnah8 C T 17: 31,037,025 (GRCm39) probably benign Het
Dolk T C 2: 30,175,740 (GRCm39) N102D probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Farp2 G A 1: 93,505,372 (GRCm39) R368Q probably damaging Het
Fndc8 A C 11: 82,789,429 (GRCm39) T196P probably damaging Het
Galc G A 12: 98,173,672 (GRCm39) T630I probably damaging Het
Gm21970 T G 16: 91,211,545 (GRCm39) S128A possibly damaging Het
Gpr146 T C 5: 139,378,533 (GRCm39) S112P probably damaging Het
Grip2 A G 6: 91,764,276 (GRCm39) S51P probably damaging Het
Htra2 G T 6: 83,031,280 (GRCm39) T43N possibly damaging Het
Lnpep T C 17: 17,799,445 (GRCm39) Y70C possibly damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mtdh A T 15: 34,099,723 (GRCm39) N158Y probably damaging Het
Neo1 A T 9: 58,833,094 (GRCm39) H550Q possibly damaging Het
Or2h1b C T 17: 37,461,979 (GRCm39) V295I probably benign Het
Or5p57 A C 7: 107,665,710 (GRCm39) F68L probably benign Het
Pex1 C T 5: 3,655,952 (GRCm39) Q260* probably null Het
Pex6 T C 17: 47,034,425 (GRCm39) V758A probably damaging Het
Qsox1 T C 1: 155,688,346 (GRCm39) E67G probably damaging Het
Rimbp2 C T 5: 128,848,861 (GRCm39) S895N probably benign Het
Rnls A G 19: 33,180,012 (GRCm39) V28A possibly damaging Het
Spidr T C 16: 15,707,494 (GRCm39) *934W probably null Het
Spta1 A T 1: 174,046,380 (GRCm39) M1654L probably damaging Het
Srbd1 C A 17: 86,295,801 (GRCm39) V870F probably benign Het
Suco A T 1: 161,662,136 (GRCm39) M765K probably benign Het
Taok1 A G 11: 77,440,178 (GRCm39) Y610H probably benign Het
Thbs1 A G 2: 117,945,141 (GRCm39) N238S probably benign Het
Them7 T A 2: 105,209,220 (GRCm39) L180* probably null Het
Trim45 A G 3: 100,832,621 (GRCm39) I285V probably benign Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Ttn A G 2: 76,601,887 (GRCm39) S10265P probably damaging Het
Vgll3 A T 16: 65,612,556 (GRCm39) Y13F probably damaging Het
Ylpm1 T A 12: 85,061,731 (GRCm39) M544K unknown Het
Ypel1 T C 16: 16,906,702 (GRCm39) T500A probably benign Het
Zmym1 T A 4: 126,942,256 (GRCm39) S711C probably damaging Het
Other mutations in Fermt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Fermt3 APN 19 6,980,626 (GRCm39) splice site probably null
IGL01724:Fermt3 APN 19 6,979,143 (GRCm39) missense probably damaging 0.99
IGL01748:Fermt3 APN 19 6,980,834 (GRCm39) critical splice donor site probably null
IGL02956:Fermt3 APN 19 6,979,712 (GRCm39) missense probably benign 0.40
IGL03146:Fermt3 APN 19 6,980,631 (GRCm39) missense possibly damaging 0.88
IGL03216:Fermt3 APN 19 6,976,748 (GRCm39) missense probably benign 0.00
Cholera UTSW 19 6,979,792 (GRCm39) missense possibly damaging 0.74
Colombia UTSW 19 6,991,245 (GRCm39) missense possibly damaging 0.63
P0026:Fermt3 UTSW 19 6,991,792 (GRCm39) missense probably damaging 0.99
R0180:Fermt3 UTSW 19 6,979,711 (GRCm39) missense possibly damaging 0.76
R0445:Fermt3 UTSW 19 6,980,667 (GRCm39) missense probably benign 0.29
R1202:Fermt3 UTSW 19 6,980,850 (GRCm39) missense probably damaging 1.00
R1475:Fermt3 UTSW 19 6,996,242 (GRCm39) splice site probably null
R1668:Fermt3 UTSW 19 6,996,060 (GRCm39) missense probably damaging 1.00
R2179:Fermt3 UTSW 19 6,991,782 (GRCm39) missense probably benign 0.14
R2311:Fermt3 UTSW 19 6,991,530 (GRCm39) missense probably damaging 0.97
R3976:Fermt3 UTSW 19 6,979,792 (GRCm39) missense possibly damaging 0.74
R4087:Fermt3 UTSW 19 6,980,945 (GRCm39) critical splice acceptor site probably null
R4667:Fermt3 UTSW 19 6,980,288 (GRCm39) missense probably damaging 1.00
R6108:Fermt3 UTSW 19 6,991,782 (GRCm39) missense probably benign 0.14
R6452:Fermt3 UTSW 19 6,992,105 (GRCm39) missense probably benign 0.00
R6994:Fermt3 UTSW 19 6,977,095 (GRCm39) missense probably damaging 1.00
R7334:Fermt3 UTSW 19 6,980,406 (GRCm39) missense probably benign 0.03
R7357:Fermt3 UTSW 19 6,980,211 (GRCm39) missense probably benign
R8804:Fermt3 UTSW 19 6,991,694 (GRCm39) critical splice donor site probably benign
R8854:Fermt3 UTSW 19 6,991,310 (GRCm39) missense probably damaging 0.98
R8883:Fermt3 UTSW 19 6,980,600 (GRCm39) missense probably damaging 1.00
R9126:Fermt3 UTSW 19 6,979,745 (GRCm39) missense probably benign 0.00
R9160:Fermt3 UTSW 19 6,991,785 (GRCm39) missense probably damaging 1.00
R9277:Fermt3 UTSW 19 6,991,245 (GRCm39) missense possibly damaging 0.63
R9296:Fermt3 UTSW 19 6,980,865 (GRCm39) missense possibly damaging 0.95
R9347:Fermt3 UTSW 19 6,980,664 (GRCm39) missense probably damaging 0.98
R9595:Fermt3 UTSW 19 6,979,619 (GRCm39) missense probably damaging 1.00
Z1177:Fermt3 UTSW 19 6,992,047 (GRCm39) missense probably benign 0.29
Posted On 2015-04-16