Incidental Mutation 'IGL01376:Serping1'
ID78725
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 #IGL01376
Quality Score
Status
Chromosome2
Chromosomal Location84765387-84775444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84770185 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 271 (V271E)
Ref Sequence ENSEMBL: ENSMUSP00000107268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]
Predicted Effect probably damaging
Transcript: ENSMUST00000023994
AA Change: V271E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: V271E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 502 3.26e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111641
AA Change: V271E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224
AA Change: V271E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A G 1: 37,628,344 L207P probably damaging Het
4930568D16Rik A T 2: 35,355,628 I61K probably benign Het
Acot12 A G 13: 91,784,671 Y521C probably damaging Het
Anxa7 T C 14: 20,460,456 N313D probably benign Het
Cdk14 T C 5: 5,010,839 I327M probably damaging Het
Clca3b T C 3: 144,826,051 N664S possibly damaging Het
Cpb1 A C 3: 20,270,324 L62R probably benign Het
Eef2 G A 10: 81,178,049 probably benign Het
Enox1 T C 14: 77,251,843 probably benign Het
Esco1 A T 18: 10,594,892 C131* probably null Het
Etv1 A T 12: 38,857,040 D347V probably damaging Het
Fat1 A G 8: 45,026,841 I2975V probably benign Het
Ghsr A G 3: 27,371,828 E11G probably benign Het
Gins4 T C 8: 23,227,327 D166G probably benign Het
Iglv2 G T 16: 19,260,565 H62N possibly damaging Het
Irf2bp1 T C 7: 19,006,027 S531P possibly damaging Het
Lrig3 T A 10: 125,994,466 F144L probably benign Het
Magi1 C T 6: 94,283,093 R77Q possibly damaging Het
Mlkl A G 8: 111,319,747 L298P probably damaging Het
Ndc1 T C 4: 107,375,197 L193P probably damaging Het
Npas3 A T 12: 54,044,586 T308S probably benign Het
Nt5dc3 A T 10: 86,834,164 Q541L probably benign Het
Olfr1084 A C 2: 86,639,609 V33G probably benign Het
Olfr1115 T C 2: 87,252,873 V312A possibly damaging Het
Parp10 G T 15: 76,241,677 T437K probably benign Het
Phf3 A G 1: 30,830,485 V494A possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Sars2 T A 7: 28,749,883 Y307N probably damaging Het
Sgpl1 G A 10: 61,114,070 P117S probably damaging Het
Slc38a1 A C 15: 96,585,556 L297R probably damaging Het
Strbp A G 2: 37,645,651 M15T probably damaging Het
Tdp2 A G 13: 24,836,949 probably null Het
Tex10 T C 4: 48,456,740 Y657C possibly damaging Het
Xrcc4 A T 13: 90,062,050 S92T probably benign Het
Other mutations in Serping1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Serping1 APN 2 84773377 missense possibly damaging 0.68
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 On2013-11-05