Incidental Mutation 'IGL02508:Furin'
ID296447
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 #IGL02508
Quality Score
Status
Chromosome7
Chromosomal Location80388585-80405436 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80392521 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 442 (T442I)
Ref Sequence ENSEMBL: ENSMUSP00000113370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206698] [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: T442I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: T442I

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: T442I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: T442I

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: T442I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: T442I

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 noncoding transcript
Transcript: ENSMUST00000153446
Predicted Effect probably benign
Transcript: ENSMUST00000205617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206271
Predicted Effect probably benign
Transcript: ENSMUST00000206352
Predicted Effect probably benign
Transcript: ENSMUST00000206479
Predicted Effect probably benign
Transcript: ENSMUST00000206539
Predicted Effect probably benign
Transcript: ENSMUST00000206698
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
AI429214 T G 8: 36,994,086 D129E probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Arhgap39 A G 15: 76,724,984 *1079Q probably null Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klhl26 A T 8: 70,452,731 D95E probably damaging Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Ogdhl T G 14: 32,345,174 M861R probably damaging Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr692 A T 7: 105,368,536 H61L possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in Furin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Furin APN 7 80392567 missense probably damaging 1.00
IGL00910:Furin APN 7 80390996 missense probably benign
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
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 unclassified probably null
R1693:Furin UTSW 7 80392482 missense probably damaging 1.00
R4524:Furin UTSW 7 80398634 unclassified 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
X0050:Furin UTSW 7 80395412 missense probably damaging 1.00
Posted On2015-04-16