Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Serpind1'

715306

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: 0.079) question?

Stock #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17149235-17161438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17154179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 2 (K2I)

Ref Sequence

ENSEMBL: ENSMUSP00000023450 (fasta)

Gene Model

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

AlphaFold

P49182

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023450
AA Change: K2I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: K2I

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

possibly damaging
Transcript: ENSMUST00000231884
AA Change: K2I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

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: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,784,736 (GRCm39)	N68Y	probably damaging	Het
Acsf3	A	T	8: 123,539,769 (GRCm39)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,392,316 (GRCm39)	I43T	probably benign	Het
Alyref	T	A	11: 120,486,790 (GRCm39)	D157V	probably damaging	Het
Anapc2	T	C	2: 25,163,132 (GRCm39)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,409,432 (GRCm39)		probably null	Het
Ccz1	G	T	5: 143,929,438 (GRCm39)	T330K	probably benign	Het
Chordc1	T	A	9: 18,213,425 (GRCm39)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,296,166 (GRCm39)	D199V	probably benign	Het
Cyp2c70	A	G	19: 40,168,889 (GRCm39)	S133P	probably damaging	Het
Dync1li2	G	A	8: 105,147,258 (GRCm39)	P479S	probably benign	Het
Fcmr	G	T	1: 130,801,951 (GRCm39)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,266,432 (GRCm39)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,253,283 (GRCm39)	E250G	probably damaging	Het
Grk2	A	T	19: 4,344,952 (GRCm39)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,614,314 (GRCm39)	R125*	probably null	Het
Jarid2	T	A	13: 45,073,306 (GRCm39)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm39)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,284,513 (GRCm39)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,954,776 (GRCm39)	Y2065H	probably damaging	Het
Krt5	C	A	15: 101,615,980 (GRCm39)	S545I	unknown	Het
Larp1b	A	T	3: 40,930,990 (GRCm39)	I290L	probably benign	Het
Lnx2	C	T	5: 146,979,289 (GRCm39)		probably benign	Het
Lonrf2	A	G	1: 38,839,839 (GRCm39)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,526,521 (GRCm39)	D345E	probably benign	Het
Micu3	T	A	8: 40,807,422 (GRCm39)	L251*	probably null	Het
Mucl1	G	T	15: 103,784,035 (GRCm39)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,197,730 (GRCm39)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,806,306 (GRCm39)	Q583*	probably null	Het
Nrap	G	A	19: 56,330,632 (GRCm39)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,106,268 (GRCm39)	V523A	probably benign	Het
Or12e9	T	A	2: 87,202,116 (GRCm39)	V80E	probably damaging	Het
Or2at4	A	T	7: 99,385,180 (GRCm39)	I277F	possibly damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or5p70	C	T	7: 107,994,849 (GRCm39)	P174L	possibly damaging	Het
Pcdhb16	T	A	18: 37,611,482 (GRCm39)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,689,299 (GRCm39)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,822,495 (GRCm39)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,607,009 (GRCm39)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,113,274 (GRCm39)	T85A	probably benign	Het
Ptprc	A	G	1: 138,044,754 (GRCm39)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,880,756 (GRCm39)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,381,242 (GRCm39)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,772,510 (GRCm39)	L2468F	probably damaging	Het
Scaf4	C	T	16: 90,026,287 (GRCm39)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,025,200 (GRCm39)	Y270C	probably damaging	Het
Slc6a20b	A	G	9: 123,439,416 (GRCm39)	S138P	probably damaging	Het
Son	T	A	16: 91,454,439 (GRCm39)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,035,384 (GRCm39)	E9G	probably benign	Het
Spmip9	T	C	6: 70,890,627 (GRCm39)	Q55R	probably benign	Het
Stx16	T	C	2: 173,933,327 (GRCm39)	L102P	probably damaging	Het
Syt12	A	T	19: 4,497,744 (GRCm39)	S413T	probably damaging	Het
Tie1	A	G	4: 118,333,376 (GRCm39)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,261,623 (GRCm39)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,536,901 (GRCm39)	D54G	probably benign	Het
Trim39	G	T	17: 36,571,492 (GRCm39)	T422K	probably benign	Het
Ttn	T	G	2: 76,536,112 (GRCm39)	E35082A		Het
Vac14	T	A	8: 111,397,738 (GRCm39)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,489,888 (GRCm39)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,106,930 (GRCm39)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,300,516 (GRCm39)	Y217N	probably damaging	Het
Zfp942	G	A	17: 22,148,422 (GRCm39)	T69I	probably benign	Het
Zmym4	A	G	4: 126,800,993 (GRCm39)	S536P	probably benign	Het
Znrf3	A	G	11: 5,288,696 (GRCm39)	V24A	probably damaging	Het
Zranb3	A	G	1: 127,891,496 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,814,009 (GRCm39)		probably null	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
R9539:Serpind1	UTSW	16	17,157,638 (GRCm39)	nonsense	probably null
R9648:Serpind1	UTSW	16	17,154,318 (GRCm39)	missense	probably benign	0.18
X0020:Serpind1	UTSW	16	17,154,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTCATAGATTCCAGGAGATGTATG -3'
(R):5'- TTCTCCAGGTCCAGGTAGTC -3'

Sequencing Primer
(F):5'- GATTCCAGGAGATGTATGAAACTTAC -3'
(R):5'- AGGTCCAGGTAGTCCTCATC -3'

Posted On

2022-06-15