Mutagenetix > Incidental Mutation

Incidental Mutation 'R7033:Serpinc1'

546422

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

045134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7033 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160806153-160830113 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160825091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 313 (T313A)

Ref Sequence

ENSEMBL: ENSMUSP00000068971 (fasta)

Gene Model

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

AlphaFold

P32261

Predicted Effect

probably benign
Transcript: ENSMUST00000064725
AA Change: T313A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: T313A

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

SMART Domains

Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,819,374 (GRCm39)	Y105C	probably damaging	Het
Acr	T	C	15: 89,453,703 (GRCm39)	S81P	probably benign	Het
Akr1c14	T	C	13: 4,129,178 (GRCm39)		probably null	Het
Ank2	C	A	3: 126,738,499 (GRCm39)	E2375*	probably null	Het
Avpi1	A	G	19: 42,113,416 (GRCm39)	W14R	probably damaging	Het
Brd4	A	G	17: 32,417,989 (GRCm39)	V55A	probably benign	Het
Casp8ap2	A	G	4: 32,639,392 (GRCm39)	N149D	probably damaging	Het
Ccl25	A	T	8: 4,399,641 (GRCm39)		probably benign	Het
Celf5	A	G	10: 81,298,548 (GRCm39)	L299P	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cfap57	T	G	4: 118,470,323 (GRCm39)	T186P	possibly damaging	Het
Chrm4	A	G	2: 91,758,692 (GRCm39)	M367V	probably benign	Het
Col1a2	A	T	6: 4,516,904 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,528 (GRCm39)	P2242L	probably damaging	Het
Cspg4	T	C	9: 56,795,358 (GRCm39)	V1031A	probably damaging	Het
Dbnl	C	A	11: 5,748,102 (GRCm39)	P313T	probably benign	Het
Dnah1	A	G	14: 30,986,882 (GRCm39)	F3637L	probably damaging	Het
Dnah7a	A	T	1: 53,518,820 (GRCm39)	I2979N	probably damaging	Het
Dusp10	T	C	1: 183,769,802 (GRCm39)	V256A	possibly damaging	Het
Dync2i1	T	C	12: 116,175,511 (GRCm39)	M889V	probably benign	Het
Erlin2	T	C	8: 27,521,792 (GRCm39)	V164A	probably benign	Het
Fam110a	T	C	2: 151,812,131 (GRCm39)	D213G	probably damaging	Het
Fkbp1a	T	C	2: 151,399,420 (GRCm39)		probably null	Het
Foxg1	G	A	12: 49,431,503 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,826 (GRCm39)	S122G	probably benign	Het
Gm2042	A	T	12: 87,927,051 (GRCm39)	D456V	probably damaging	Het
Grin2b	A	G	6: 135,900,036 (GRCm39)	Y282H	probably damaging	Het
Gys2	T	C	6: 142,418,448 (GRCm39)	D27G	probably benign	Het
H2-DMa	T	A	17: 34,355,971 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,502,631 (GRCm39)	I4245N	possibly damaging	Het
Incenp	A	G	19: 9,870,736 (GRCm39)	Y298H	unknown	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kifc1	A	T	17: 34,102,671 (GRCm39)	V314E	probably damaging	Het
Lurap1l	C	T	4: 80,829,604 (GRCm39)	P5S	probably benign	Het
Mtmr11	A	G	3: 96,077,262 (GRCm39)	Y540C	probably damaging	Het
Muc4	C	A	16: 32,576,698 (GRCm39)		probably benign	Het
Myh13	A	G	11: 67,260,142 (GRCm39)	E1860G	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nbeal1	G	A	1: 60,350,106 (GRCm39)	G2385D	probably damaging	Het
Ncaph2	G	A	15: 89,255,559 (GRCm39)	A578T	probably benign	Het
Ncr1	T	C	7: 4,341,144 (GRCm39)	V8A	possibly damaging	Het
Nutm1	T	C	2: 112,086,513 (GRCm39)	T73A	probably damaging	Het
Olfm1	G	A	2: 28,119,348 (GRCm39)	D313N	probably damaging	Het
Or11h4	A	G	14: 50,974,164 (GRCm39)	F152L	possibly damaging	Het
Or13f5	A	G	4: 52,826,089 (GRCm39)	M231V	probably benign	Het
Or4a66	T	A	2: 88,531,164 (GRCm39)	N170Y	probably damaging	Het
Otog	T	A	7: 45,916,822 (GRCm39)		probably null	Het
Peak1	G	T	9: 56,166,991 (GRCm39)	D312E	probably damaging	Het
Plekhg1	T	C	10: 3,890,251 (GRCm39)	I331T	probably damaging	Het
Polr1b	T	C	2: 128,957,562 (GRCm39)	V539A	possibly damaging	Het
Polr2a	A	T	11: 69,638,039 (GRCm39)	H143Q	possibly damaging	Het
Ppargc1b	G	T	18: 61,440,785 (GRCm39)	A711D	probably damaging	Het
Prnd	T	A	2: 131,795,362 (GRCm39)	C161S	possibly damaging	Het
Prrt4	A	G	6: 29,171,147 (GRCm39)	L435P	possibly damaging	Het
Psen2	C	T	1: 180,055,085 (GRCm39)		probably null	Het
Psg23	T	C	7: 18,348,669 (GRCm39)	E46G	possibly damaging	Het
Rasgef1b	C	T	5: 99,380,195 (GRCm39)	R350H	probably damaging	Het
Rfxank	G	C	8: 70,590,820 (GRCm39)	P16A	probably benign	Het
Sema6a	A	G	18: 47,381,637 (GRCm39)	I944T	probably damaging	Het
Slc27a4	T	C	2: 29,694,283 (GRCm39)	S36P	possibly damaging	Het
Slc36a1	C	A	11: 55,114,563 (GRCm39)	R214S	probably benign	Het
Sorl1	C	T	9: 41,942,279 (GRCm39)	S982N	possibly damaging	Het
Speer1k	G	T	5: 11,000,518 (GRCm39)		probably null	Het
Syt1	A	C	10: 108,526,797 (GRCm39)	D37E	probably benign	Het
Tcl1b5	A	T	12: 105,142,750 (GRCm39)	D26V	probably damaging	Het
Tenm4	A	T	7: 96,544,430 (GRCm39)	K2149*	probably null	Het
Ubc	T	A	5: 125,465,238 (GRCm39)	I30F	probably damaging	Het
Ugt1a7c	A	T	1: 88,023,250 (GRCm39)	E136D	possibly damaging	Het
Utp20	A	G	10: 88,590,337 (GRCm39)		probably null	Het
Vmn1r159	C	T	7: 22,542,289 (GRCm39)	V248I	probably damaging	Het
Vmn2r105	T	C	17: 20,428,874 (GRCm39)	H734R	probably damaging	Het
Xrcc2	T	G	5: 25,897,707 (GRCm39)	I81L	possibly damaging	Het
Zfat	A	C	15: 68,052,864 (GRCm39)	I310S	probably damaging	Het
Zfp119a	A	G	17: 56,173,009 (GRCm39)	V278A	probably benign	Het
Zfp53	A	G	17: 21,720,508 (GRCm39)	K33E	probably benign	Het
Zfp866	G	T	8: 70,218,491 (GRCm39)	H376Q	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
R1480:Serpinc1	UTSW	1	160,822,889 (GRCm39)	missense	probably benign	0.00
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
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'- GGCCTGTGGAAGTCAAAGTTC -3'
(R):5'- CTCCTATACCAACCTGGGAGTTG -3'

Sequencing Primer
(F):5'- CTGTGGAAGTCAAAGTTCAGCCC -3'
(R):5'- AGATCAATGAGGCCCATGTCTTG -3'

Posted On

2019-05-13