Incidental Mutation 'IGL01903:Serping1'
ID179607
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 #IGL01903
Quality Score
Status
Chromosome2
Chromosomal Location84765387-84775444 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 84769772 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]
Predicted Effect probably null
Transcript: ENSMUST00000023994
SMART Domains Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 502 3.26e-97 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111641
SMART Domains Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,155,401 probably benign Het
Adad1 T A 3: 37,085,082 probably null Het
Asxl3 T A 18: 22,434,576 D70E probably benign Het
Atat1 T A 17: 35,897,800 I380L probably benign Het
Ccnj A G 19: 40,846,010 E351G probably damaging Het
Clca4b A T 3: 144,928,259 Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,965 V16G probably damaging Het
Gcdh A T 8: 84,888,604 L389Q probably damaging Het
Ggta1 A T 2: 35,402,557 F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3696 T A 14: 7,089,782 probably benign Het
Gramd3 A T 18: 56,474,029 S72C probably damaging Het
Hal G A 10: 93,500,607 probably benign Het
Haus4 A T 14: 54,542,429 S288T possibly damaging Het
Herc1 A T 9: 66,386,872 K499* probably null Het
Hyou1 C T 9: 44,381,141 probably benign Het
Kng2 C T 16: 22,987,790 R553Q possibly damaging Het
Leng9 G A 7: 4,148,747 A310V probably damaging Het
Magi3 G T 3: 104,051,210 Q520K possibly damaging Het
Mark1 A G 1: 184,929,380 probably benign Het
Mybl1 T A 1: 9,671,576 probably null Het
Ncapd2 A G 6: 125,177,460 S598P probably benign Het
Olfr1110 A C 2: 87,135,379 probably null Het
Olfr126 T C 17: 37,609,867 I295V possibly damaging Het
Olfr1297 T C 2: 111,621,658 K139E probably benign Het
Olfr1441 G A 19: 12,422,683 V125I probably benign Het
Otud6b C T 4: 14,818,458 E148K probably benign Het
Pgghg A G 7: 140,946,828 Q686R probably benign Het
Pkhd1 C A 1: 20,198,137 C3339F probably damaging Het
Pla2g4a T C 1: 149,840,619 D697G possibly damaging Het
Sfxn4 T C 19: 60,858,680 Y55C probably damaging Het
Sh3bp5l A G 11: 58,346,038 R274G probably damaging Het
Snx13 A G 12: 35,085,969 T88A probably benign Het
Spz1 G T 13: 92,574,899 N356K probably damaging Het
Taf2 A T 15: 55,060,016 F288L probably benign Het
Tti1 T C 2: 158,000,622 E829G probably benign Het
Ube2z T C 11: 96,065,000 D92G possibly damaging Het
Vmn2r7 A G 3: 64,719,443 Y142H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp397 T A 18: 23,960,029 N190K probably benign Het
Other mutations in Serping1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Serping1 APN 2 84770185 missense probably damaging 1.00
IGL01791:Serping1 APN 2 84773377 missense possibly damaging 0.68
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 On2014-05-07