Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Serpind1'

584576

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

045622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17149235-17161438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17154539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 122 (D122G)

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: D122G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: D122G

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: D122G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	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
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
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'- AGCTGCTTGGTGAAGATGACG -3'
(R):5'- CGAAGTGTGTACCCAAAATTCCTC -3'

Sequencing Primer
(F):5'- CTGCTTGGTGAAGATGACGACTAC -3'
(R):5'- ATTCCTCCTGAATAGACGATGGGTC -3'

Posted On

2019-10-17