Mutagenetix > Incidental Mutation

Incidental Mutation 'R9648:Serpind1'

726898

Institutional Source

Beutler Lab

Gene Symbol

Serpind1

Ensembl Gene

ENSMUSG00000022766

Gene Name

serine (or cysteine) peptidase inhibitor, clade D, member 1

Synonyms

HC II, heparin cofactor II, Hcf2, HCII

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9648 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17149235-17161438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17154318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

Ref Sequence

ENSEMBL: ENSMUSP00000023450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023450] [ENSMUST00000036161] [ENSMUST00000231884] [ENSMUST00000232232]

AlphaFold

P49182

Predicted Effect

probably benign
Transcript: ENSMUST00000023450
AA Change: N48K

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: N48K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
SERPIN	114	475	9.76e-160	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036161

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720

Domain	Start	End	E-Value	Type
low complexity region	198	221	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
SCOP:d1gw5a_	268	675	2e-3	SMART
low complexity region	895	907	N/A	INTRINSIC
PI3Ka	1483	1671	2.11e-54	SMART
Blast:PI3Kc	1688	1762	2e-39	BLAST
PI3Kc	1788	2041	4.04e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231884
AA Change: N48K

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000232232

Predicted Effect

probably benign
Transcript: ENSMUST00000232404

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,609,172 (GRCm39)	V798M	probably damaging	Het
Adprhl1	A	G	8: 13,273,245 (GRCm39)	L1171P	probably benign	Het
Atp2b2	C	T	6: 113,780,707 (GRCm39)		probably null	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Bptf	A	T	11: 106,943,720 (GRCm39)	N2720K	probably damaging	Het
Ccpg1	T	C	9: 72,919,312 (GRCm39)	L309S	probably damaging	Het
Cep295	T	C	9: 15,234,903 (GRCm39)	N2126S	probably benign	Het
Cln5	A	G	14: 103,313,734 (GRCm39)	T329A	probably benign	Het
Cmas	T	A	6: 142,716,935 (GRCm39)	L276M	probably benign	Het
Cnbd1	A	C	4: 19,098,142 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,444 (GRCm39)	N18S	probably damaging	Het
Dido1	C	A	2: 180,302,468 (GRCm39)	R1812I	probably damaging	Het
Dnajc2	G	A	5: 21,968,478 (GRCm39)	T403M	probably damaging	Het
Dnm1	T	A	2: 32,230,455 (GRCm39)	I120F	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Foxa2	T	A	2: 147,887,799 (GRCm39)	K12M	probably damaging	Het
Fut7	T	A	2: 25,315,336 (GRCm39)	V198E	probably damaging	Het
Gramd1b	A	T	9: 40,244,793 (GRCm39)	V205E	probably damaging	Het
Gtf2i	T	A	5: 134,284,770 (GRCm39)	N510Y	probably damaging	Het
H2-M1	T	C	17: 36,982,248 (GRCm39)	I118V	probably benign	Het
Icam1	T	C	9: 20,937,697 (GRCm39)	F245L	probably damaging	Het
Ifna16	C	T	4: 88,595,060 (GRCm39)	A12T	probably benign	Het
Il12rb2	T	C	6: 67,333,587 (GRCm39)	T231A	probably benign	Het
Klrb1a	T	C	6: 128,586,816 (GRCm39)		probably null	Het
Mc3r	T	C	2: 172,091,639 (GRCm39)	L287P	probably damaging	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Msh3	A	G	13: 92,478,757 (GRCm39)	V404A	probably benign	Het
Myrf	T	A	19: 10,188,010 (GRCm39)	I896F	possibly damaging	Het
Nup205	T	A	6: 35,202,746 (GRCm39)	Y1318N	probably benign	Het
Or2t47	A	T	11: 58,442,313 (GRCm39)	Y251N	probably damaging	Het
Or7g17	T	A	9: 18,768,748 (GRCm39)	S267T	possibly damaging	Het
Osbp	T	A	19: 11,943,590 (GRCm39)	W96R	probably damaging	Het
Pcf11	A	G	7: 92,307,318 (GRCm39)	L950P	probably damaging	Het
Pcnt	T	C	10: 76,190,089 (GRCm39)	T2816A	probably benign	Het
Pde7a	A	G	3: 19,310,966 (GRCm39)	Y87H	probably damaging	Het
Pip4k2c	T	C	10: 127,041,569 (GRCm39)	H163R	probably damaging	Het
Pld1	T	A	3: 28,174,900 (GRCm39)	L846Q	probably damaging	Het
Plppr2	T	A	9: 21,852,379 (GRCm39)	S113T	probably benign	Het
Pms1	A	T	1: 53,314,284 (GRCm39)	L87Q	probably damaging	Het
Rasa1	A	G	13: 85,436,690 (GRCm39)	S113P	possibly damaging	Het
Rexo1	T	A	10: 80,385,540 (GRCm39)	H506L	probably damaging	Het
Rps12	T	C	10: 23,662,777 (GRCm39)	I6V	probably benign	Het
Rsph3a	T	C	17: 8,171,395 (GRCm39)	M170T	probably benign	Het
Rsrc2	A	G	5: 123,877,688 (GRCm39)	S156P	unknown	Het
Rtp3	T	C	9: 110,815,586 (GRCm39)	T260A	probably benign	Het
Sall2	A	G	14: 52,551,224 (GRCm39)	F657S	probably damaging	Het
Slc38a11	T	A	2: 65,188,484 (GRCm39)	D95V	probably benign	Het
Slc5a4a	T	C	10: 76,002,608 (GRCm39)	C255R	probably damaging	Het
Slc6a12	C	A	6: 121,335,661 (GRCm39)	Y330*	probably null	Het
Slco1b2	T	C	6: 141,602,655 (GRCm39)	Y203H	possibly damaging	Het
Spdye4a	C	T	5: 143,210,848 (GRCm39)	R74K	probably benign	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stat1	A	T	1: 52,165,695 (GRCm39)	D97V	probably damaging	Het
Stk11ip	A	G	1: 75,505,585 (GRCm39)	E418G	probably damaging	Het
Tcf20	T	C	15: 82,739,876 (GRCm39)	D525G	probably damaging	Het
Tcstv7b	C	T	13: 120,702,495 (GRCm39)	P97L	possibly damaging	Het
Tlr2	A	T	3: 83,745,840 (GRCm39)	L81Q	probably damaging	Het
Tmt1a3	C	T	15: 100,232,857 (GRCm39)	A16V	probably benign	Het
Trim50	T	A	5: 135,395,475 (GRCm39)	I277N	probably damaging	Het
Ttn	T	A	2: 76,619,806 (GRCm39)	Q15954L	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,960,494 (GRCm39)	K592R	probably benign	Het
Xirp2	A	G	2: 67,346,599 (GRCm39)	I2947V	probably benign	Het
Zan	A	C	5: 137,405,992 (GRCm39)	F3746V	unknown	Het
Zfp418	G	A	7: 7,185,171 (GRCm39)	S378N	probably benign	Het
Zfp518b	C	G	5: 38,830,240 (GRCm39)	Q588H	probably damaging	Het
Zfp959	G	A	17: 56,204,212 (GRCm39)	R83K	possibly damaging	Het
Znrf3	G	A	11: 5,231,915 (GRCm39)	R437C	probably damaging	Het

Other mutations in Serpind1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Serpind1	APN	16	17,154,787 (GRCm39)	missense	probably benign	0.00
R1433:Serpind1	UTSW	16	17,160,249 (GRCm39)	missense	probably damaging	1.00
R1839:Serpind1	UTSW	16	17,160,856 (GRCm39)	missense	probably damaging	1.00
R1991:Serpind1	UTSW	16	17,160,808 (GRCm39)	missense	probably benign	0.00
R2103:Serpind1	UTSW	16	17,160,808 (GRCm39)	missense	probably benign	0.00
R2937:Serpind1	UTSW	16	17,154,972 (GRCm39)	missense	probably benign	0.01
R4774:Serpind1	UTSW	16	17,154,272 (GRCm39)	missense	probably benign
R5233:Serpind1	UTSW	16	17,154,758 (GRCm39)	missense	probably damaging	1.00
R5493:Serpind1	UTSW	16	17,157,902 (GRCm39)	missense	probably damaging	1.00
R5713:Serpind1	UTSW	16	17,154,851 (GRCm39)	missense	probably damaging	1.00
R5720:Serpind1	UTSW	16	17,157,696 (GRCm39)	missense	probably benign	0.02
R7553:Serpind1	UTSW	16	17,154,539 (GRCm39)	missense	probably benign	0.00
R8311:Serpind1	UTSW	16	17,160,730 (GRCm39)	missense	possibly damaging	0.72
R8402:Serpind1	UTSW	16	17,154,949 (GRCm39)	missense	probably benign
R8531:Serpind1	UTSW	16	17,160,847 (GRCm39)	missense	probably damaging	1.00
R9468:Serpind1	UTSW	16	17,154,179 (GRCm39)	missense	possibly damaging	0.81
R9539:Serpind1	UTSW	16	17,157,638 (GRCm39)	nonsense	probably null
X0020:Serpind1	UTSW	16	17,154,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGCACATTCCAGTGGG -3'
(R):5'- AGGATATTAAGACGCTGGATCCG -3'

Sequencing Primer
(F):5'- CACATTCCAGTGGGGGTGG -3'
(R):5'- ACGCTGGATCCGGCTCTTG -3'

Posted On

2022-10-06