Mutagenetix > Incidental Mutations

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

HCII, HC II, Hcf2, heparin cofactor II

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17331371-17343575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17336675 bp (GRCm38)

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: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	Het

Other mutations in Serpind1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Serpind1	APN	16	17336923	missense	probably benign	0.00
R1433:Serpind1	UTSW	16	17342385	missense	probably damaging	1.00
R1839:Serpind1	UTSW	16	17342992	missense	probably damaging	1.00
R1991:Serpind1	UTSW	16	17342944	missense	probably benign	0.00
R2103:Serpind1	UTSW	16	17342944	missense	probably benign	0.00
R2937:Serpind1	UTSW	16	17337108	missense	probably benign	0.01
R4774:Serpind1	UTSW	16	17336408	missense	probably benign
R5233:Serpind1	UTSW	16	17336894	missense	probably damaging	1.00
R5493:Serpind1	UTSW	16	17340038	missense	probably damaging	1.00
R5713:Serpind1	UTSW	16	17336987	missense	probably damaging	1.00
R5720:Serpind1	UTSW	16	17339832	missense	probably benign	0.02
R8311:Serpind1	UTSW	16	17342866	missense	possibly damaging	0.72
R8402:Serpind1	UTSW	16	17337085	missense	probably benign
R8531:Serpind1	UTSW	16	17342983	missense	probably damaging	1.00
R9468:Serpind1	UTSW	16	17336315	missense	possibly damaging	0.81
X0020:Serpind1	UTSW	16	17336720	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