Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Serpina5'

439403

Institutional Source

Beutler Lab

Gene Symbol

Serpina5

Ensembl Gene

ENSMUSG00000041550

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 5

Synonyms

PAI-3, Pci, antitrypsin, alpha-1 antiproteinase

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104067372-104072396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104070003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 300 (Y300S)

Ref Sequence

ENSEMBL: ENSMUSP00000021495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021495]

AlphaFold

P70458

Predicted Effect

probably damaging
Transcript: ENSMUST00000021495
AA Change: Y300S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: Y300S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SERPIN	48	405	1.4e-160	SMART

Meta Mutation Damage Score

0.2088

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

95% (54/57)

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 member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,178,781 (GRCm39)	D199G	probably benign	Het
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Ankrd26	C	A	6: 118,488,583 (GRCm39)	D1359Y	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Colec12	T	A	18: 9,848,267 (GRCm39)	D148E	possibly damaging	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Dyrk3	T	C	1: 131,056,452 (GRCm39)	S574G	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	Het

Other mutations in Serpina5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Serpina5	APN	12	104,071,479 (GRCm39)	missense	probably damaging	1.00
IGL01138:Serpina5	APN	12	104,070,003 (GRCm39)	missense	possibly damaging	0.60
IGL01526:Serpina5	APN	12	104,068,149 (GRCm39)	missense	probably damaging	1.00
IGL02159:Serpina5	APN	12	104,071,557 (GRCm39)	missense	possibly damaging	0.95
IGL02351:Serpina5	APN	12	104,068,384 (GRCm39)	missense	probably damaging	1.00
IGL02358:Serpina5	APN	12	104,068,384 (GRCm39)	missense	probably damaging	1.00
IGL02735:Serpina5	APN	12	104,070,116 (GRCm39)	missense	probably benign	0.21
IGL03087:Serpina5	APN	12	104,067,992 (GRCm39)	missense	probably benign	0.01
R0189:Serpina5	UTSW	12	104,069,589 (GRCm39)	missense	probably damaging	1.00
R0304:Serpina5	UTSW	12	104,069,459 (GRCm39)	missense	possibly damaging	0.76
R0492:Serpina5	UTSW	12	104,068,392 (GRCm39)	missense	probably damaging	1.00
R0511:Serpina5	UTSW	12	104,069,621 (GRCm39)	missense	probably benign	0.00
R0611:Serpina5	UTSW	12	104,070,046 (GRCm39)	missense	probably benign
R1016:Serpina5	UTSW	12	104,071,582 (GRCm39)	missense	probably damaging	0.97
R1649:Serpina5	UTSW	12	104,071,484 (GRCm39)	missense	possibly damaging	0.94
R1970:Serpina5	UTSW	12	104,070,116 (GRCm39)	missense	probably benign	0.02
R4429:Serpina5	UTSW	12	104,069,665 (GRCm39)	missense	probably benign	0.00
R4805:Serpina5	UTSW	12	104,068,460 (GRCm39)	missense	probably damaging	0.97
R6226:Serpina5	UTSW	12	104,068,037 (GRCm39)	missense	possibly damaging	0.72
R7097:Serpina5	UTSW	12	104,068,554 (GRCm39)	critical splice donor site	probably null
R7357:Serpina5	UTSW	12	104,069,639 (GRCm39)	missense	possibly damaging	0.85
R8208:Serpina5	UTSW	12	104,071,532 (GRCm39)	missense	probably benign	0.00
R9337:Serpina5	UTSW	12	104,071,542 (GRCm39)	missense	possibly damaging	0.92
R9383:Serpina5	UTSW	12	104,070,131 (GRCm39)	missense	probably damaging	1.00
R9526:Serpina5	UTSW	12	104,069,403 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCAAACTTAAATGTTACCCATC -3'
(R):5'- TTTCTGAAATCAGGTGCTCAGG -3'

Sequencing Primer
(F):5'- TCAAGTCTTCAGTCCAGGACATG -3'
(R):5'- GGAGCTTCTAGACTCACCTCAG -3'

Posted On

2016-10-26