Incidental Mutation 'IGL01791:Serping1'
ID 155225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serping1
Ensembl Gene ENSMUSG00000023224
Gene Name serine (or cysteine) peptidase inhibitor, clade G, member 1
Synonyms C1 inhibitor, C1nh, C1INH
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01791
Quality Score
Status
Chromosome 2
Chromosomal Location 84595731-84605788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84603721 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97290
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
Arhgap32 A G 9: 32,158,486 (GRCm39) I174V probably damaging Het
Asb15 T A 6: 24,567,211 (GRCm39) C511S probably damaging Het
Atr C T 9: 95,803,834 (GRCm39) A1896V probably benign Het
B3gnt4 C T 5: 123,649,162 (GRCm39) R176C probably damaging Het
Brf1 T C 12: 112,926,095 (GRCm39) D557G probably benign Het
Catsperg2 T A 7: 29,404,090 (GRCm39) probably null Het
Cdip1 A G 16: 4,586,729 (GRCm39) I122T probably damaging Het
Ctrl C T 8: 106,659,199 (GRCm39) E147K probably benign Het
Dennd2c T C 3: 103,073,741 (GRCm39) V829A probably benign Het
Dync1h1 T A 12: 110,625,364 (GRCm39) L3874Q probably damaging Het
Dynlt4 T A 4: 116,985,794 (GRCm39) S206T probably damaging Het
Gm10521 T C 1: 171,723,964 (GRCm39) S92P unknown Het
Gm57858 T C 3: 36,089,416 (GRCm39) probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hddc2 A G 10: 31,202,022 (GRCm39) Y123C probably damaging Het
Hyal4 T C 6: 24,763,894 (GRCm39) probably benign Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Ing2 A T 8: 48,122,070 (GRCm39) S159R probably benign Het
Itga1 A T 13: 115,124,197 (GRCm39) N698K probably benign Het
Lemd2 A T 17: 27,409,702 (GRCm39) I483N probably damaging Het
Lyst T C 13: 13,809,887 (GRCm39) L519P probably damaging Het
Mapk10 T C 5: 103,144,514 (GRCm39) N101S probably damaging Het
Nfatc4 A T 14: 56,069,695 (GRCm39) E164V probably null Het
Nfkb2 T G 19: 46,298,278 (GRCm39) probably benign Het
Nox3 A G 17: 3,733,218 (GRCm39) V231A possibly damaging Het
Nup160 G A 2: 90,534,197 (GRCm39) G674D probably damaging Het
Or1l4b A T 2: 37,036,548 (GRCm39) D108V probably damaging Het
Or56b1 C T 7: 104,285,682 (GRCm39) T267I possibly damaging Het
Otoa T G 7: 120,755,072 (GRCm39) V998G probably benign Het
Pcnx3 A T 19: 5,723,295 (GRCm39) M1300K probably benign Het
Pde4b A G 4: 102,448,127 (GRCm39) probably benign Het
Rfc1 T A 5: 65,420,488 (GRCm39) K1104I probably benign Het
Serpina1f G T 12: 103,659,761 (GRCm39) Q174K probably damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Surf6 A G 2: 26,789,759 (GRCm39) S94P probably benign Het
Tigd4 T A 3: 84,502,052 (GRCm39) I323N probably damaging Het
Vmn2r28 T C 7: 5,491,161 (GRCm39) D362G probably benign Het
Wdfy3 A G 5: 102,085,278 (GRCm39) S739P probably damaging Het
Other mutations in Serping1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Serping1 APN 2 84,600,529 (GRCm39) missense probably damaging 1.00
IGL01903:Serping1 APN 2 84,600,116 (GRCm39) critical splice donor site probably null
IGL03182:Serping1 APN 2 84,596,162 (GRCm39) missense probably damaging 1.00
R0094:Serping1 UTSW 2 84,603,620 (GRCm39) missense probably benign 0.00
R0548:Serping1 UTSW 2 84,600,425 (GRCm39) splice site probably benign
R0782:Serping1 UTSW 2 84,597,790 (GRCm39) missense probably damaging 1.00
R1585:Serping1 UTSW 2 84,601,848 (GRCm39) missense probably benign 0.33
R1900:Serping1 UTSW 2 84,601,793 (GRCm39) missense probably damaging 0.99
R1965:Serping1 UTSW 2 84,596,072 (GRCm39) missense probably damaging 1.00
R1966:Serping1 UTSW 2 84,596,072 (GRCm39) missense probably damaging 1.00
R2252:Serping1 UTSW 2 84,600,195 (GRCm39) missense probably damaging 0.99
R2426:Serping1 UTSW 2 84,600,563 (GRCm39) missense probably damaging 0.99
R4997:Serping1 UTSW 2 84,600,629 (GRCm39) missense possibly damaging 0.74
R5665:Serping1 UTSW 2 84,601,889 (GRCm39) missense probably damaging 0.99
R6192:Serping1 UTSW 2 84,600,612 (GRCm39) missense possibly damaging 0.93
R6866:Serping1 UTSW 2 84,600,577 (GRCm39) missense probably benign 0.42
R7084:Serping1 UTSW 2 84,603,835 (GRCm39) missense probably benign
R7526:Serping1 UTSW 2 84,597,637 (GRCm39) missense probably benign
R7707:Serping1 UTSW 2 84,604,043 (GRCm39) splice site probably null
R7732:Serping1 UTSW 2 84,600,448 (GRCm39) missense probably damaging 1.00
R9480:Serping1 UTSW 2 84,600,487 (GRCm39) missense probably benign 0.07
Posted On 2014-02-04