Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Serping1'

218247

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

039978-MU

Accession Numbers

Essential gene?

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

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84595731-84605788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84596072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 454 (T454K)

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: T454K

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

SMART Domains

Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: T454K

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	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
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'- GTTTACCCAAGCCTGTCTCAAC -3'
(R):5'- GTTTCCCACTGACAAGACCAG -3'

Sequencing Primer
(F):5'- CCCCTGGGGTCATATACACGAC -3'
(R):5'- TCAGGAAATTAAGAGCAGAATCTCC -3'

Posted On

2014-08-01