Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03182:Serping1'

412298

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 #

IGL03182

Quality Score

Status

Chromosome

Chromosomal Location

84595731-84605788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84596162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 424 (D424G)

Ref Sequence

ENSEMBL: ENSMUSP00000023994 (fasta)

Gene Model

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

AlphaFold

P97290

Predicted Effect

probably damaging
Transcript: ENSMUST00000023994
AA Change: D424G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: D424G

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	T	6: 34,780,435 (GRCm39)	K469N	probably damaging	Het
Aldh2	A	G	5: 121,718,787 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,619,580 (GRCm39)		probably benign	Het
Ankhd1	C	T	18: 36,711,827 (GRCm39)	T209I	probably benign	Het
Aox3	G	A	1: 58,205,046 (GRCm39)	V754I	probably benign	Het
Arfgef3	C	T	10: 18,476,292 (GRCm39)	R1509H	probably damaging	Het
Ccdc157	A	G	11: 4,101,832 (GRCm39)	S30P	probably damaging	Het
Cept1	T	A	3: 106,411,866 (GRCm39)	E369D	probably damaging	Het
Clcnka	T	C	4: 141,121,798 (GRCm39)	Y236C	probably damaging	Het
Ddx42	A	T	11: 106,138,353 (GRCm39)	L717F	probably benign	Het
Dnah11	A	T	12: 117,994,026 (GRCm39)	I2340N	probably damaging	Het
Dsel	T	C	1: 111,787,868 (GRCm39)	E889G	probably damaging	Het
Fasn	T	C	11: 120,703,552 (GRCm39)	Y1560C	probably damaging	Het
Fermt2	A	T	14: 45,699,225 (GRCm39)	M623K	possibly damaging	Het
Gm21970	T	A	16: 91,190,726 (GRCm39)	S110T	possibly damaging	Het
Gm826	T	A	2: 160,169,035 (GRCm39)	R91S	unknown	Het
Lrrn3	A	G	12: 41,504,020 (GRCm39)	L99S	probably damaging	Het
Megf8	T	A	7: 25,046,773 (GRCm39)	M1552K	possibly damaging	Het
Mgll	G	T	6: 88,800,173 (GRCm39)	V191F	probably damaging	Het
Nkapd1	T	C	9: 50,523,698 (GRCm39)	N50S	possibly damaging	Het
Nol8	C	A	13: 49,817,557 (GRCm39)	H778N	probably damaging	Het
Or1e26	T	A	11: 73,480,268 (GRCm39)	T99S	probably benign	Het
Or5b116	A	C	19: 13,422,807 (GRCm39)	T144P	possibly damaging	Het
Or8g30	A	T	9: 39,230,277 (GRCm39)	M211K	probably benign	Het
Or8k40	A	T	2: 86,584,366 (GRCm39)	S239T	probably damaging	Het
Pfkfb3	A	T	2: 11,506,474 (GRCm39)	I13N	probably damaging	Het
Pim1	T	A	17: 29,710,740 (GRCm39)	D114E	possibly damaging	Het
Pkd1	T	C	17: 24,792,792 (GRCm39)	L1493P	probably damaging	Het
Plb1	A	T	5: 32,502,259 (GRCm39)		probably benign	Het
Plch1	A	T	3: 63,610,015 (GRCm39)	Y872*	probably null	Het
Rictor	A	G	15: 6,819,079 (GRCm39)	D1434G	probably benign	Het
Rptor	G	A	11: 119,615,971 (GRCm39)	G162R	probably damaging	Het
Slit2	A	G	5: 48,377,395 (GRCm39)	I475V	possibly damaging	Het
Snx31	G	T	15: 36,525,833 (GRCm39)	Q289K	probably benign	Het
Tbc1d13	G	A	2: 30,037,379 (GRCm39)	A254T	probably damaging	Het
Tek	T	C	4: 94,740,002 (GRCm39)	I750T	probably damaging	Het
Tet2	A	T	3: 133,177,159 (GRCm39)	L1296*	probably null	Het
Tmem145	T	A	7: 25,014,304 (GRCm39)	F459I	probably damaging	Het
Uba5	A	T	9: 103,931,328 (GRCm39)	V247D	possibly damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Zfp609	A	G	9: 65,608,287 (GRCm39)	S1198P	probably benign	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
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

2016-08-02