Incidental Mutation 'IGL00910:Furin'
ID27788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Furin
Ensembl Gene ENSMUSG00000030530
Gene Namefurin (paired basic amino acid cleaving enzyme)
SynonymsPcsk3, PACE, SPC1, 9130404I01Rik, Fur
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00910
Quality Score
Status
Chromosome7
Chromosomal Location80388585-80405436 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80390996 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 698 (V698A)
Ref Sequence ENSEMBL: ENSMUSP00000113370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206698] [ENSMUST00000206728] [ENSMUST00000206744]
Predicted Effect probably benign
Transcript: ENSMUST00000080932
SMART Domains Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158

DomainStartEndE-ValueType
FCH 1 94 2.22e-26 SMART
coiled coil region 133 165 N/A INTRINSIC
coiled coil region 320 344 N/A INTRINSIC
SH2 458 536 8.41e-26 SMART
TyrKc 561 814 1.57e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107362
AA Change: V698A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: V698A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:1KN6|A 27 107 4e-7 PDB
Pfam:Peptidase_S8 148 436 3.2e-62 PFAM
Pfam:P_proprotein 484 570 1.3e-33 PFAM
FU 577 620 4.67e-5 SMART
FU 638 681 2.13e-8 SMART
transmembrane domain 713 735 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120753
AA Change: V698A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: V698A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:S8_pro-domain 33 107 5.8e-28 PFAM
Pfam:Peptidase_S8 144 427 9.1e-51 PFAM
Pfam:P_proprotein 484 570 4.4e-32 PFAM
FU 577 620 4.67e-5 SMART
FU 638 681 2.13e-8 SMART
transmembrane domain 713 735 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122232
AA Change: V698A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: V698A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:1KN6|A 27 107 4e-7 PDB
Pfam:Peptidase_S8 148 436 3.2e-62 PFAM
Pfam:P_proprotein 484 570 1.3e-33 PFAM
FU 577 620 4.67e-5 SMART
FU 638 681 2.13e-8 SMART
transmembrane domain 713 735 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146771
Predicted Effect probably benign
Transcript: ENSMUST00000205617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206271
Predicted Effect probably benign
Transcript: ENSMUST00000206479
Predicted Effect probably benign
Transcript: ENSMUST00000206539
Predicted Effect probably benign
Transcript: ENSMUST00000206698
Predicted Effect probably benign
Transcript: ENSMUST00000206728
Predicted Effect probably benign
Transcript: ENSMUST00000206744
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a calcium-dependent serine endoprotease that proteolytically activates different proprotein substrates traversing the secretory pathway. The encoded protein undergoes proteolytic autoactivation during which an N-terminal propeptide is cleaved to generate the mature protein. Mice lacking the encoded protein die at an embryonic stage and display hemodynamic insufficiency, cardiac ventral closure defect, axial rotation defect and abnormal yolk sac vasculature. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A G 15: 84,955,819 L109P probably damaging Het
Aacs T A 5: 125,508,708 M316K probably benign Het
Adarb2 T C 13: 8,672,433 V375A probably damaging Het
Adgra2 C A 8: 27,085,983 A13E possibly damaging Het
Ankrd34c A T 9: 89,729,026 S421T probably benign Het
Bpifa6 A T 2: 153,990,466 M298L probably benign Het
Casq2 T C 3: 102,110,231 probably benign Het
Ckap5 A G 2: 91,576,050 T762A probably benign Het
Dhx38 A G 8: 109,559,034 V389A probably benign Het
Dnah7b A T 1: 46,066,729 probably benign Het
Dnajc7 A T 11: 100,599,191 F79L possibly damaging Het
Dyrk3 A G 1: 131,136,336 I3T possibly damaging Het
Fam84a T C 12: 14,150,526 S67G probably benign Het
Fchsd2 T C 7: 101,277,626 I641T probably benign Het
Prl2c5 G A 13: 13,189,476 probably null Het
Ryr3 A T 2: 112,728,934 probably benign Het
Serpina6 G T 12: 103,651,965 probably benign Het
Slc6a2 A G 8: 92,996,100 Y575C probably damaging Het
Trim9 T C 12: 70,347,113 E19G probably damaging Het
Tsfm G T 10: 127,028,359 probably benign Het
Other mutations in Furin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Furin APN 7 80392567 missense probably damaging 1.00
IGL01701:Furin APN 7 80392492 missense probably benign 0.11
IGL01701:Furin APN 7 80390759 missense probably benign 0.00
IGL01921:Furin APN 7 80395954 unclassified probably benign
IGL01981:Furin APN 7 80392899 missense probably damaging 1.00
IGL02035:Furin APN 7 80390987 missense probably benign
IGL02096:Furin APN 7 80393459 missense probably damaging 1.00
IGL02508:Furin APN 7 80392521 missense probably benign 0.01
IGL02611:Furin APN 7 80391778 missense probably benign 0.04
R0359:Furin UTSW 7 80391284 missense probably damaging 1.00
R0481:Furin UTSW 7 80393549 missense probably damaging 1.00
R0554:Furin UTSW 7 80391284 missense probably damaging 1.00
R1346:Furin UTSW 7 80392184 unclassified probably benign
R1347:Furin UTSW 7 80392184 unclassified probably benign
R1373:Furin UTSW 7 80392184 unclassified probably benign
R1553:Furin UTSW 7 80398592 splice site probably null
R1693:Furin UTSW 7 80392482 missense probably damaging 1.00
R4524:Furin UTSW 7 80398634 splice site probably null
R4687:Furin UTSW 7 80393447 missense probably benign 0.00
R4869:Furin UTSW 7 80396979 missense probably damaging 1.00
R5249:Furin UTSW 7 80393421 missense probably damaging 1.00
R5498:Furin UTSW 7 80391794 missense probably damaging 1.00
R5708:Furin UTSW 7 80397855 intron probably benign
R6086:Furin UTSW 7 80395431 missense probably damaging 1.00
R6505:Furin UTSW 7 80393617 missense probably damaging 1.00
R6772:Furin UTSW 7 80393492 missense probably damaging 1.00
R6945:Furin UTSW 7 80391090 missense possibly damaging 0.82
R6954:Furin UTSW 7 80396964 missense possibly damaging 0.79
R7396:Furin UTSW 7 80398114 missense probably benign 0.00
R7510:Furin UTSW 7 80393585 missense probably damaging 1.00
R7542:Furin UTSW 7 80393459 missense probably damaging 1.00
R7577:Furin UTSW 7 80396986 missense probably damaging 1.00
R7812:Furin UTSW 7 80395974 missense possibly damaging 0.94
R7995:Furin UTSW 7 80395447 missense probably damaging 1.00
R8351:Furin UTSW 7 80398722 missense probably benign 0.00
R8389:Furin UTSW 7 80390879 missense probably benign 0.00
R8451:Furin UTSW 7 80398722 missense probably benign 0.00
X0050:Furin UTSW 7 80395412 missense probably damaging 1.00
Posted On2013-04-17