Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Serpina5'

290353

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

104067372-104072396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104068384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 148 (K148N)

Ref Sequence

ENSEMBL: ENSMUSP00000021495 (fasta)

Gene Model

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

AlphaFold

P70458

Predicted Effect

probably damaging
Transcript: ENSMUST00000021495
AA Change: K148N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: K148N

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

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	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
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
R5608:Serpina5	UTSW	12	104,070,003 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16