Incidental Mutation 'R1900:Serping1'
ID 214154
Institutional Source Beutler Lab
Gene Symbol Serping1
Ensembl Gene ENSMUSG00000023224
Gene Name serine (or cysteine) peptidase inhibitor, clade G, member 1
Synonyms C1 inhibitor, C1nh, C1INH
MMRRC Submission 039920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1900 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84595731-84605788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84601793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 226 (V226M)
Ref Sequence ENSEMBL: ENSMUSP00000107268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]
AlphaFold P97290
Predicted Effect probably damaging
Transcript: ENSMUST00000023994
AA Change: V226M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: V226M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 502 3.26e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111641
AA Change: V226M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224
AA Change: V226M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 156 347 5.39e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131456
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 96% (100/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T C 2: 32,630,559 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,729 (GRCm39) I221V probably benign Het
Ankfy1 C T 11: 72,645,233 (GRCm39) Q771* probably null Het
Ankrd50 T C 3: 38,509,536 (GRCm39) T944A probably damaging Het
Armh4 T C 14: 50,008,040 (GRCm39) T478A probably damaging Het
AU040320 A C 4: 126,747,073 (GRCm39) probably null Het
Axdnd1 A G 1: 156,208,344 (GRCm39) probably null Het
Cdadc1 A T 14: 59,823,981 (GRCm39) D170E probably damaging Het
Cep164 C A 9: 45,721,123 (GRCm39) R93L probably damaging Het
Cep250 T C 2: 155,827,294 (GRCm39) probably null Het
Cfdp1 G A 8: 112,495,361 (GRCm39) R286* probably null Het
Chrdl2 A G 7: 99,682,871 (GRCm39) I377V possibly damaging Het
Cntrob A T 11: 69,198,880 (GRCm39) S623T probably benign Het
Col6a5 C T 9: 105,808,412 (GRCm39) G879S unknown Het
Cyp2c38 T A 19: 39,426,756 (GRCm39) I182F probably benign Het
Dennd4a T C 9: 64,804,618 (GRCm39) V1319A probably damaging Het
Dysf T G 6: 84,016,549 (GRCm39) V70G probably damaging Het
Edn3 A G 2: 174,603,398 (GRCm39) T49A possibly damaging Het
Elac1 C G 18: 73,872,316 (GRCm39) L226F probably damaging Het
Eps8l3 A G 3: 107,798,268 (GRCm39) D445G probably benign Het
Fgf11 G T 11: 69,692,279 (GRCm39) T58K probably benign Het
Fstl5 T A 3: 76,615,467 (GRCm39) W843R probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gal3st2c G A 1: 93,936,766 (GRCm39) R237H probably damaging Het
Galnt15 G T 14: 31,771,822 (GRCm39) R289L probably damaging Het
Garin4 T A 1: 190,896,631 (GRCm39) K4M possibly damaging Het
Gdf5 T A 2: 155,784,001 (GRCm39) D317V probably damaging Het
Gm7808 A G 9: 19,839,410 (GRCm39) probably benign Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Hdlbp A T 1: 93,349,959 (GRCm39) probably benign Het
Hhip T C 8: 80,701,675 (GRCm39) T620A probably benign Het
Hs3st3a1 T C 11: 64,411,268 (GRCm39) S269P probably damaging Het
Il17ra A T 6: 120,454,355 (GRCm39) probably null Het
Kif2a T C 13: 107,113,503 (GRCm39) N417S possibly damaging Het
Klhl41 T A 2: 69,504,963 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,766,800 (GRCm39) C169F probably damaging Het
Lap3 T C 5: 45,669,252 (GRCm39) F467S probably damaging Het
Lpar6 A T 14: 73,476,579 (GRCm39) Y180F probably benign Het
Lrig3 T C 10: 125,838,262 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,877,432 (GRCm39) S378T probably damaging Het
Ltf T C 9: 110,851,913 (GRCm39) F117L possibly damaging Het
Med16 T C 10: 79,734,765 (GRCm39) E533G probably damaging Het
Meltf T C 16: 31,700,787 (GRCm39) probably null Het
Mphosph10 C T 7: 64,030,776 (GRCm39) E488K possibly damaging Het
Mroh1 A G 15: 76,317,585 (GRCm39) T812A probably benign Het
Mto1 T C 9: 78,368,799 (GRCm39) probably benign Het
Ndst1 A T 18: 60,845,793 (GRCm39) probably null Het
Ndst4 T A 3: 125,491,544 (GRCm39) probably null Het
Nhlh1 A T 1: 171,881,608 (GRCm39) I86N probably damaging Het
Nme9 A C 9: 99,341,827 (GRCm39) D59A probably damaging Het
Nox4 A T 7: 87,010,004 (GRCm39) R402* probably null Het
Npr1 T C 3: 90,369,495 (GRCm39) D410G probably damaging Het
Nrip1 T A 16: 76,088,927 (GRCm39) T877S probably benign Het
Nsd2 A G 5: 34,003,513 (GRCm39) N221S probably benign Het
Ophn1 A T X: 97,769,665 (GRCm39) Y181* probably null Het
Or13a28 A T 7: 140,218,505 (GRCm39) D297V probably damaging Het
Or1e17 C A 11: 73,831,486 (GRCm39) P138Q possibly damaging Het
Or4c123 T C 2: 89,127,014 (GRCm39) N200S probably damaging Het
Or51ac3 A T 7: 103,213,814 (GRCm39) L224* probably null Het
Or51f5 A T 7: 102,424,538 (GRCm39) H269L probably benign Het
Or5b109 T A 19: 13,212,277 (GRCm39) I221K possibly damaging Het
Or8c10 A T 9: 38,279,360 (GRCm39) I173L probably benign Het
Parp1 A G 1: 180,424,904 (GRCm39) K819R probably damaging Het
Parp9 T C 16: 35,792,591 (GRCm39) S829P probably benign Het
Pde6c T A 19: 38,150,388 (GRCm39) F511Y probably damaging Het
Per3 G T 4: 151,125,883 (GRCm39) H145Q probably damaging Het
Pglyrp1 C T 7: 18,624,151 (GRCm39) R145W probably damaging Het
Piezo1 T C 8: 123,209,384 (GRCm39) probably benign Het
Plb1 T C 5: 32,444,191 (GRCm39) I312T probably benign Het
Plin3 T A 17: 56,586,824 (GRCm39) T408S possibly damaging Het
Polr2a A T 11: 69,634,772 (GRCm39) I636N probably damaging Het
Pramel51 A C 12: 88,144,030 (GRCm39) L261R probably benign Het
Prb1b A T 6: 132,291,661 (GRCm39) L11Q unknown Het
Prex2 G T 1: 11,232,590 (GRCm39) E886* probably null Het
Proca1 A T 11: 78,095,847 (GRCm39) I73F probably damaging Het
Ptpn6 A G 6: 124,705,896 (GRCm39) S83P probably benign Het
Rtp1 G T 16: 23,248,049 (GRCm39) V41L probably benign Het
Scn4a A G 11: 106,218,359 (GRCm39) I1035T probably damaging Het
Sell A T 1: 163,892,907 (GRCm39) Y41F probably damaging Het
Sf3b1 A T 1: 55,037,347 (GRCm39) D856E possibly damaging Het
Sfmbt1 T A 14: 30,524,524 (GRCm39) Y503N probably damaging Het
Slc16a1 T A 3: 104,560,880 (GRCm39) V395D probably damaging Het
Slc22a7 A T 17: 46,749,157 (GRCm39) D53E probably benign Het
Slc35b3 A G 13: 39,144,587 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,815 (GRCm39) M274T possibly damaging Het
Slco1a5 A G 6: 142,187,789 (GRCm39) S517P probably benign Het
Smo A G 6: 29,736,055 (GRCm39) R16G unknown Het
Srebf1 A G 11: 60,094,312 (GRCm39) L601P probably damaging Het
Sspo A G 6: 48,436,284 (GRCm39) I1086M probably benign Het
Tas2r106 A T 6: 131,655,373 (GRCm39) N159K probably damaging Het
Thsd1 G A 8: 22,742,334 (GRCm39) probably benign Het
Tmeff1 T C 4: 48,658,938 (GRCm39) probably benign Het
Tmem140 G A 6: 34,849,838 (GRCm39) C118Y possibly damaging Het
Tmem168 A G 6: 13,583,070 (GRCm39) C220R probably benign Het
Tox2 A T 2: 163,118,087 (GRCm39) N129Y probably damaging Het
Trappc12 C T 12: 28,796,984 (GRCm39) E183K probably damaging Het
Unc50 A G 1: 37,477,880 (GRCm39) Y254C probably damaging Het
Unk T G 11: 115,949,907 (GRCm39) D691E probably benign Het
Uox T A 3: 146,316,134 (GRCm39) V23D probably damaging Het
Vps13d A G 4: 144,853,176 (GRCm39) C2313R probably benign Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zfyve26 A G 12: 79,311,125 (GRCm39) L147P probably damaging Het
Zmynd10 A T 9: 107,427,236 (GRCm39) Q288L probably benign Het
Zzef1 T A 11: 72,739,540 (GRCm39) D662E probably damaging Het
Other mutations in Serping1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Serping1 APN 2 84,600,529 (GRCm39) missense probably damaging 1.00
IGL01791:Serping1 APN 2 84,603,721 (GRCm39) missense possibly damaging 0.68
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
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
Predicted Primers PCR Primer
(F):5'- AAATGACTTGCCCGGGTCTC -3'
(R):5'- ACACCCTGTATTCTAGTCAGTCTTCAG -3'

Sequencing Primer
(F):5'- TCTCACGGGGAAGGACC -3'
(R):5'- CAGCCTGTCTCAAATAGTAGGTC -3'
Posted On 2014-07-14