Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Serping1'

628388

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

067893-MU

Accession Numbers

Essential gene?

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

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84595731-84605788 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 84604043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107268 (fasta)

Gene Model

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

AlphaFold

P97290

Predicted Effect

probably null
Transcript: ENSMUST00000023994

SMART Domains

Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

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

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap1s3	T	C	1: 79,591,964 (GRCm39)	K129E	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,753,771 (GRCm39)	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Gorab	T	C	1: 163,220,009 (GRCm39)	D211G	probably damaging	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Nr2c1	T	A	10: 94,024,027 (GRCm39)	S411T	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,132,207 (GRCm39)	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	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
R7526:Serping1	UTSW	2	84,597,637 (GRCm39)	missense	probably benign
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'- TAGAGGGCAGTACTGTAGGC -3'
(R):5'- GCACTAGTCTGGCAAGTGAGTC -3'

Sequencing Primer
(F):5'- ACTGTAGGCTCTGGGGGACTC -3'
(R):5'- CACTAGTCTGGCAAGTGAGTCAAAAC -3'

Posted On

2020-03-19