Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Serpinc1'

164257

Institutional Source

Beutler Lab

Gene Symbol

Serpinc1

Ensembl Gene

ENSMUSG00000026715

Gene Name

serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1

Synonyms

At3, At-3, ATIII, antithrombin

MMRRC Submission

039533-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1480 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160806153-160830113 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160822889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

Ref Sequence

ENSEMBL: ENSMUSP00000141556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000191936] [ENSMUST00000194592] [ENSMUST00000195438]

AlphaFold

P32261

Predicted Effect

probably benign
Transcript: ENSMUST00000064725
AA Change: E210G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: E210G

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
SERPIN	93	462	5.55e-173	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191936

SMART Domains

Protein: ENSMUSP00000142122
Gene: ENSMUSG00000026715

Domain	Start	End	E-Value	Type
Pfam:Serpin	1	91	2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194455

Predicted Effect

probably benign
Transcript: ENSMUST00000194592
AA Change: E210G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715
AA Change: E210G

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
SERPIN	93	286	8.3e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195438

SMART Domains

Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715

Domain	Start	End	E-Value	Type
Pfam:Serpin	1	97	1.1e-14	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
Agbl4	G	A	4: 111,423,914 (GRCm39)	M313I	possibly damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,545,752 (GRCm39)	I907V	unknown	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lias	T	A	5: 65,549,634 (GRCm39)	H39Q	probably benign	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phactr2	G	A	10: 13,129,536 (GRCm39)	P174L	possibly damaging	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prkcb	T	C	7: 122,193,865 (GRCm39)	W525R	probably damaging	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	probably damaging	Het

Other mutations in Serpinc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Serpinc1	APN	1	160,820,970 (GRCm39)	missense	probably damaging	1.00
IGL01923:Serpinc1	APN	1	160,817,116 (GRCm39)	missense	probably damaging	0.98
IGL01987:Serpinc1	APN	1	160,820,977 (GRCm39)	missense	probably damaging	1.00
IGL02272:Serpinc1	APN	1	160,827,562 (GRCm39)	missense	probably damaging	1.00
IGL02574:Serpinc1	APN	1	160,830,029 (GRCm39)	missense	probably benign	0.00
IGL02730:Serpinc1	APN	1	160,827,598 (GRCm39)	missense	probably damaging	0.97
IGL02861:Serpinc1	APN	1	160,827,561 (GRCm39)	missense	probably damaging	0.99
IGL03377:Serpinc1	APN	1	160,821,012 (GRCm39)	missense	probably damaging	1.00
R0277:Serpinc1	UTSW	1	160,817,272 (GRCm39)	start codon destroyed	probably null	1.00
R1294:Serpinc1	UTSW	1	160,817,211 (GRCm39)	missense	probably damaging	0.98
R1368:Serpinc1	UTSW	1	160,821,094 (GRCm39)	missense	probably damaging	1.00
R1433:Serpinc1	UTSW	1	160,820,974 (GRCm39)	missense	probably damaging	0.97
R1436:Serpinc1	UTSW	1	160,820,981 (GRCm39)	missense	possibly damaging	0.63
R1703:Serpinc1	UTSW	1	160,821,087 (GRCm39)	missense	probably damaging	1.00
R1775:Serpinc1	UTSW	1	160,817,217 (GRCm39)	missense	probably benign	0.07
R2007:Serpinc1	UTSW	1	160,821,110 (GRCm39)	missense	probably benign	0.05
R3757:Serpinc1	UTSW	1	160,829,935 (GRCm39)	missense	probably benign	0.00
R5134:Serpinc1	UTSW	1	160,825,140 (GRCm39)	splice site	probably null
R5252:Serpinc1	UTSW	1	160,817,191 (GRCm39)	missense	probably damaging	1.00
R7033:Serpinc1	UTSW	1	160,825,091 (GRCm39)	missense	probably benign	0.04
R7254:Serpinc1	UTSW	1	160,821,188 (GRCm39)	missense	probably benign	0.01
R7262:Serpinc1	UTSW	1	160,817,229 (GRCm39)	missense	probably damaging	1.00
R7429:Serpinc1	UTSW	1	160,823,011 (GRCm39)	missense	probably benign	0.03
R8169:Serpinc1	UTSW	1	160,820,971 (GRCm39)	missense	probably damaging	1.00
R8490:Serpinc1	UTSW	1	160,817,028 (GRCm39)	missense	probably damaging	1.00
R9502:Serpinc1	UTSW	1	160,821,179 (GRCm39)	nonsense	probably null
R9627:Serpinc1	UTSW	1	160,821,101 (GRCm39)	nonsense	probably null
Z1176:Serpinc1	UTSW	1	160,817,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCGGTGTGGGTTAAAGCAATG -3'
(R):5'- ACACTACTAAGCCTCTGGACCTCTG -3'

Sequencing Primer
(F):5'- atcctcctgcctctgcc -3'
(R):5'- CCATTTCAGGAGGGATTTGACTAC -3'

Posted On

2014-03-28