Incidental Mutation 'IGL01981:Furin'
ID 183485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Furin
Ensembl Gene ENSMUSG00000030530
Gene Name furin, paired basic amino acid cleaving enzyme
Synonyms PACE, 9130404I01Rik, SPC1, Pcsk3, Fur
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 7
Chromosomal Location 80038942-80055188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80042647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 380 (L380P)
Ref Sequence ENSEMBL: ENSMUSP00000113370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000206479] [ENSMUST00000205617]
AlphaFold P23188
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 damaging
Transcript: ENSMUST00000107362
AA Change: L380P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: L380P

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 damaging
Transcript: ENSMUST00000120753
AA Change: L380P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: L380P

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 damaging
Transcript: ENSMUST00000122232
AA Change: L380P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: L380P

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: ENSMUST00000206352
Predicted Effect probably benign
Transcript: ENSMUST00000206479
Predicted Effect probably benign
Transcript: ENSMUST00000205617
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Furin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Furin APN 7 80,042,315 (GRCm39) missense probably damaging 1.00
IGL00910:Furin APN 7 80,040,744 (GRCm39) missense probably benign
IGL01701:Furin APN 7 80,040,507 (GRCm39) missense probably benign 0.00
IGL01701:Furin APN 7 80,042,240 (GRCm39) missense probably benign 0.11
IGL01921:Furin APN 7 80,045,702 (GRCm39) unclassified probably benign
IGL02035:Furin APN 7 80,040,735 (GRCm39) missense probably benign
IGL02096:Furin APN 7 80,043,207 (GRCm39) missense probably damaging 1.00
IGL02508:Furin APN 7 80,042,269 (GRCm39) missense probably benign 0.01
IGL02611:Furin APN 7 80,041,526 (GRCm39) missense probably benign 0.04
R0359:Furin UTSW 7 80,041,032 (GRCm39) missense probably damaging 1.00
R0481:Furin UTSW 7 80,043,297 (GRCm39) missense probably damaging 1.00
R0554:Furin UTSW 7 80,041,032 (GRCm39) missense probably damaging 1.00
R1346:Furin UTSW 7 80,041,932 (GRCm39) unclassified probably benign
R1347:Furin UTSW 7 80,041,932 (GRCm39) unclassified probably benign
R1373:Furin UTSW 7 80,041,932 (GRCm39) unclassified probably benign
R1553:Furin UTSW 7 80,048,340 (GRCm39) splice site probably null
R1693:Furin UTSW 7 80,042,230 (GRCm39) missense probably damaging 1.00
R4524:Furin UTSW 7 80,048,382 (GRCm39) splice site probably null
R4687:Furin UTSW 7 80,043,195 (GRCm39) missense probably benign 0.00
R4869:Furin UTSW 7 80,046,727 (GRCm39) missense probably damaging 1.00
R5249:Furin UTSW 7 80,043,169 (GRCm39) missense probably damaging 1.00
R5498:Furin UTSW 7 80,041,542 (GRCm39) missense probably damaging 1.00
R5708:Furin UTSW 7 80,047,603 (GRCm39) intron probably benign
R6086:Furin UTSW 7 80,045,179 (GRCm39) missense probably damaging 1.00
R6505:Furin UTSW 7 80,043,365 (GRCm39) missense probably damaging 1.00
R6772:Furin UTSW 7 80,043,240 (GRCm39) missense probably damaging 1.00
R6945:Furin UTSW 7 80,040,838 (GRCm39) missense possibly damaging 0.82
R6954:Furin UTSW 7 80,046,712 (GRCm39) missense possibly damaging 0.79
R7396:Furin UTSW 7 80,047,862 (GRCm39) missense probably benign 0.00
R7510:Furin UTSW 7 80,043,333 (GRCm39) missense probably damaging 1.00
R7542:Furin UTSW 7 80,043,207 (GRCm39) missense probably damaging 1.00
R7577:Furin UTSW 7 80,046,734 (GRCm39) missense probably damaging 1.00
R7812:Furin UTSW 7 80,045,722 (GRCm39) missense possibly damaging 0.94
R7995:Furin UTSW 7 80,045,195 (GRCm39) missense probably damaging 1.00
R8351:Furin UTSW 7 80,048,470 (GRCm39) missense probably benign 0.00
R8389:Furin UTSW 7 80,040,627 (GRCm39) missense probably benign 0.00
R8451:Furin UTSW 7 80,048,470 (GRCm39) missense probably benign 0.00
R8691:Furin UTSW 7 80,041,775 (GRCm39) unclassified probably benign
R8917:Furin UTSW 7 80,048,437 (GRCm39) missense probably benign
R9282:Furin UTSW 7 80,040,846 (GRCm39) missense probably benign 0.00
R9380:Furin UTSW 7 80,041,506 (GRCm39) missense probably benign 0.00
R9786:Furin UTSW 7 80,040,645 (GRCm39) missense probably benign 0.29
X0050:Furin UTSW 7 80,045,160 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07