Incidental Mutation 'IGL03216:Fermt3'
ID413495
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 #IGL03216
Quality Score
Status
Chromosome19
Chromosomal Location6998958-7019469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6999380 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 653 (D653E)
Ref Sequence ENSEMBL: ENSMUSP00000037858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000041686] [ENSMUST00000088223] [ENSMUST00000180765]
Predicted Effect probably benign
Transcript: ENSMUST00000040772
AA Change: D653E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: D653E

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: ENSMUST00000041686
SMART Domains Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088223
SMART Domains Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656

DomainStartEndE-ValueType
Pfam:PTS_2-RNA 21 198 2.6e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180762
Predicted Effect probably benign
Transcript: ENSMUST00000180765
SMART Domains Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T C 16: 38,828,690 D19G possibly damaging Het
Ano10 A T 9: 122,257,061 Y491N probably damaging Het
Cacna2d1 T C 5: 16,353,842 F709L probably damaging Het
Cadps A G 14: 12,439,944 I1196T probably damaging Het
Cage1 T C 13: 38,006,177 probably benign Het
Cep350 A T 1: 155,860,627 C2888S probably benign Het
Cfap52 T C 11: 67,954,106 T46A possibly damaging Het
Cyp2d26 T C 15: 82,793,261 M76V probably benign Het
Fam208b C T 13: 3,574,553 C1799Y probably damaging Het
Foxj3 A G 4: 119,609,983 probably benign Het
Gm21985 T A 2: 112,266,936 S39T probably damaging Het
Herc1 A T 9: 66,478,946 D3727V probably benign Het
Ifi208 A T 1: 173,678,941 T97S possibly damaging Het
Iqgap1 T C 7: 80,743,088 E709G probably benign Het
Itgb5 T A 16: 33,902,838 H361Q probably benign Het
Mr1 T A 1: 155,129,289 N335I possibly damaging Het
Nadsyn1 A T 7: 143,797,845 F684I probably damaging Het
Nf1 A T 11: 79,564,895 I2544F probably benign Het
Olfr786 A G 10: 129,436,937 T42A probably damaging Het
Pnp2 T G 14: 50,963,197 S107A probably benign Het
Pomt1 A G 2: 32,242,943 I184V probably damaging Het
Slc6a19 T G 13: 73,686,181 M301L probably benign Het
Smarca5 T C 8: 80,719,658 Y471C probably damaging Het
Syne2 A T 12: 75,942,961 probably benign Het
Trmt6 T C 2: 132,808,698 N330S probably null Het
Tsc22d1 T C 14: 76,418,637 V770A probably benign Het
Ttll6 A G 11: 96,152,014 D462G probably benign Het
Ttn T C 2: 76,945,049 H1883R probably damaging Het
Ubxn10 C T 4: 138,720,739 V209M probably damaging Het
Urb1 T C 16: 90,788,114 T540A probably benign Het
Vmn2r17 A T 5: 109,452,890 R685W probably damaging Het
Vps4a C T 8: 107,036,703 R30C probably damaging Het
Xpo6 A G 7: 126,104,813 V1055A probably damaging Het
Zfp445 C T 9: 122,851,978 C966Y 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
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
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
R7334:Fermt3 UTSW 19 7003038 missense probably benign 0.03
R7357:Fermt3 UTSW 19 7002843 missense probably benign
Z1177:Fermt3 UTSW 19 7014679 missense probably benign 0.29
Posted On2016-08-02