Incidental Mutation 'IGL01791:Serping1'
ID155225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serping1
Ensembl Gene ENSMUSG00000023224
Gene Nameserine (or cysteine) peptidase inhibitor, clade G, member 1
SynonymsC1INH, C1 inhibitor, C1nh
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL01791
Quality Score
Status
Chromosome2
Chromosomal Location84765387-84775444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84773377 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 107 (N107D)
Ref Sequence ENSEMBL: ENSMUSP00000023994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023994
AA Change: N107D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: N107D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 502 3.26e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111641
AA Change: N107D

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224
AA Change: N107D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 347 5.39e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131456
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice exhibit an increased vascular permeability compared to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap32 A G 9: 32,247,190 I174V probably damaging Het
Asb15 T A 6: 24,567,212 C511S probably damaging Het
Atr C T 9: 95,921,781 A1896V probably benign Het
B3gnt4 C T 5: 123,511,099 R176C probably damaging Het
Brf1 T C 12: 112,962,475 D557G probably benign Het
Catsperg2 T A 7: 29,704,665 probably null Het
Ccdc144b T C 3: 36,035,267 probably benign Het
Cdip1 A G 16: 4,768,865 I122T probably damaging Het
Ctrl C T 8: 105,932,567 E147K probably benign Het
Dennd2c T C 3: 103,166,425 V829A probably benign Het
Dync1h1 T A 12: 110,658,930 L3874Q probably damaging Het
Gm10521 T C 1: 171,896,397 S92P unknown Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hddc2 A G 10: 31,326,026 Y123C probably damaging Het
Hyal4 T C 6: 24,763,895 probably benign Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Ing2 A T 8: 47,669,035 S159R probably benign Het
Itga1 A T 13: 114,987,661 N698K probably benign Het
Lemd2 A T 17: 27,190,728 I483N probably damaging Het
Lyst T C 13: 13,635,302 L519P probably damaging Het
Mapk10 T C 5: 102,996,648 N101S probably damaging Het
Nfatc4 A T 14: 55,832,238 E164V probably null Het
Nfkb2 T G 19: 46,309,839 probably benign Het
Nox3 A G 17: 3,682,943 V231A possibly damaging Het
Nup160 G A 2: 90,703,853 G674D probably damaging Het
Olfr364-ps1 A T 2: 37,146,536 D108V probably damaging Het
Olfr657 C T 7: 104,636,475 T267I possibly damaging Het
Otoa T G 7: 121,155,849 V998G probably benign Het
Pcnx3 A T 19: 5,673,267 M1300K probably benign Het
Pde4b A G 4: 102,590,930 probably benign Het
Rfc1 T A 5: 65,263,145 K1104I probably benign Het
Serpina1f G T 12: 103,693,502 Q174K probably damaging Het
Surf6 A G 2: 26,899,747 S94P probably benign Het
Tctex1d4 T A 4: 117,128,597 S206T probably damaging Het
Tigd4 T A 3: 84,594,745 I323N probably damaging Het
Vmn2r28 T C 7: 5,488,162 D362G probably benign Het
Wdfy3 A G 5: 101,937,412 S739P probably damaging Het
Other mutations in Serping1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Serping1 APN 2 84770185 missense probably damaging 1.00
IGL01903:Serping1 APN 2 84769772 critical splice donor site probably null
IGL03182:Serping1 APN 2 84765818 missense probably damaging 1.00
R0094:Serping1 UTSW 2 84773276 missense probably benign 0.00
R0548:Serping1 UTSW 2 84770081 splice site probably benign
R0782:Serping1 UTSW 2 84767446 missense probably damaging 1.00
R1585:Serping1 UTSW 2 84771504 missense probably benign 0.33
R1900:Serping1 UTSW 2 84771449 missense probably damaging 0.99
R1965:Serping1 UTSW 2 84765728 missense probably damaging 1.00
R1966:Serping1 UTSW 2 84765728 missense probably damaging 1.00
R2252:Serping1 UTSW 2 84769851 missense probably damaging 0.99
R2426:Serping1 UTSW 2 84770219 missense probably damaging 0.99
R4997:Serping1 UTSW 2 84770285 missense possibly damaging 0.74
R5665:Serping1 UTSW 2 84771545 missense probably damaging 0.99
R6192:Serping1 UTSW 2 84770268 missense possibly damaging 0.93
R6866:Serping1 UTSW 2 84770233 missense probably benign 0.42
Posted On2014-02-04