Incidental Mutation 'IGL01160:Fermt3'
ID 54084
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 # IGL01160
Quality Score
Status
Chromosome 19
Chromosomal Location 6976326-6996837 bp(-) (GRCm39)
Type of Mutation splice site (4214 bp from exon)
DNA Base Change (assembly) C to T at 6980626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000088223]
AlphaFold Q8K1B8
Predicted Effect probably benign
Transcript: ENSMUST00000040772
AA Change: A314T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: A314T

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 null
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Fermt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02392:Fermt3 APN 19 6,996,183 (GRCm39) missense probably benign 0.35
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 2013-06-28