Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Serping1'

582960

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

045598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84595731-84605788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84597637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 415 (S415T)

Ref Sequence

ENSEMBL: ENSMUSP00000023994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023994] [ENSMUST00000111641]

AlphaFold

P97290

Predicted Effect

probably benign
Transcript: ENSMUST00000023994
AA Change: S415T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: S415T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	156	502	3.26e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111641

SMART Domains

Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	156	347	5.39e-6	SMART

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,043,807 (GRCm39)	F85I	unknown	Het
Ankrd22	A	T	19: 34,126,765 (GRCm39)	W22R	possibly damaging	Het
Aqr	A	T	2: 113,938,590 (GRCm39)	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609 (GRCm39)	E791G	probably damaging	Het
Bicd1	T	G	6: 149,415,224 (GRCm39)	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,562,360 (GRCm39)	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,850 (GRCm39)	H465R	probably damaging	Het
Card11	A	T	5: 140,899,184 (GRCm39)		probably null	Het
Ccdc9	A	G	7: 16,016,325 (GRCm39)	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,800,771 (GRCm39)	M355K	probably benign	Het
Cnot2	A	T	10: 116,342,985 (GRCm39)	V116E	probably benign	Het
Defb48	A	G	14: 63,215,280 (GRCm39)	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,477,076 (GRCm39)	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,308,241 (GRCm39)	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,009,833 (GRCm39)	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,675,306 (GRCm39)	V71I	probably benign	Het
Dzip3	A	T	16: 48,795,837 (GRCm39)	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,550,308 (GRCm39)		probably null	Het
Eogt	A	G	6: 97,090,913 (GRCm39)	F409L	probably damaging	Het
Erich6	A	T	3: 58,538,110 (GRCm39)	L218H	probably damaging	Het
Fam186a	G	C	15: 99,839,796 (GRCm39)	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,476,464 (GRCm39)	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,502,126 (GRCm39)	T501S	probably damaging	Het
Fmn1	A	C	2: 113,518,479 (GRCm39)	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,775,251 (GRCm39)	P170Q	probably benign	Het
Gm14326	G	A	2: 177,588,298 (GRCm39)	H233Y	probably damaging	Het
Gm19410	G	A	8: 36,257,766 (GRCm39)	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,919 (GRCm39)	I143L		Het
Greb1	G	A	12: 16,766,766 (GRCm39)	T344I	probably benign	Het
Grik2	A	T	10: 49,399,918 (GRCm39)	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,808,885 (GRCm39)	N212D	probably benign	Het
Hgsnat	A	G	8: 26,461,077 (GRCm39)	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,532,324 (GRCm39)	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,728 (GRCm39)	I96N	unknown	Het
Il18r1	T	A	1: 40,510,932 (GRCm39)	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,798 (GRCm39)	V80I	probably damaging	Het
Kif18b	T	C	11: 102,805,493 (GRCm39)	I255V	probably damaging	Het
Kif2c	A	T	4: 117,039,629 (GRCm39)	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,448,864 (GRCm39)	W572R	probably damaging	Het
Mybphl	A	G	3: 108,281,496 (GRCm39)	T71A	probably benign	Het
Myo7a	G	T	7: 97,734,655 (GRCm39)	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,805,715 (GRCm39)	S195P	probably damaging	Het
Nrg1	T	C	8: 32,308,351 (GRCm39)	N603S	probably benign	Het
Or52ae9	T	C	7: 103,389,607 (GRCm39)	Y280C	probably damaging	Het
Or8k22	A	T	2: 86,163,697 (GRCm39)	M1K	probably null	Het
Or8k37	A	G	2: 86,470,013 (GRCm39)	I13T	possibly damaging	Het
Parp8	T	C	13: 117,031,341 (GRCm39)	E457G	probably damaging	Het
Pclo	T	C	5: 14,571,076 (GRCm39)	F154L	probably benign	Het
Pear1	A	G	3: 87,659,875 (GRCm39)	S704P	probably damaging	Het
Pkib	A	G	10: 57,612,394 (GRCm39)	T92A	probably benign	Het
Pnpla7	A	G	2: 24,888,678 (GRCm39)	R376G	possibly damaging	Het
Pramel28	A	T	4: 143,692,387 (GRCm39)	C205S	probably benign	Het
Ptprd	T	A	4: 75,984,564 (GRCm39)	E527D	probably benign	Het
Pum1	T	C	4: 130,474,337 (GRCm39)	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,283 (GRCm39)	Q238*	probably null	Het
Scn9a	A	C	2: 66,313,990 (GRCm39)	N1909K	probably benign	Het
Sema3c	A	T	5: 17,932,594 (GRCm39)	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,566,927 (GRCm39)	C201S	probably damaging	Het
Serinc2	T	A	4: 130,152,583 (GRCm39)	D206V	probably benign	Het
Sirpb1b	A	T	3: 15,613,932 (GRCm39)	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,011,296 (GRCm39)	E262G	probably benign	Het
Slc5a8	A	G	10: 88,738,353 (GRCm39)	I205M	probably damaging	Het
Sod2	G	T	17: 13,226,918 (GRCm39)		probably benign	Het
Tec	T	C	5: 72,943,362 (GRCm39)	I118V	probably benign	Het
Tenm3	A	T	8: 48,740,847 (GRCm39)	V1212E	probably damaging	Het
Tex44	G	A	1: 86,354,237 (GRCm39)	V49I	probably benign	Het
Tmem132d	A	T	5: 127,861,205 (GRCm39)	L972*	probably null	Het
Tpte	G	A	8: 22,815,563 (GRCm39)		probably null	Het
Trim6	T	A	7: 103,882,039 (GRCm39)	I456N	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Ubxn8	A	T	8: 34,123,635 (GRCm39)	N101K	probably benign	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vmn2r83	A	G	10: 79,327,392 (GRCm39)	T667A	probably damaging	Het
Zpld2	T	C	4: 133,927,384 (GRCm39)		probably null	Het

Other mutations in Serping1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGCAAACTTTTGGTAAGTCACAC -3'
(R):5'- CTTTGTGATCGTGGTACCCG -3'

Sequencing Primer
(F):5'- TGGTAAGTCACACACAGTTTCGG -3'
(R):5'- TGGTACCCGTGTTCCCAAAG -3'

Posted On

2019-10-17