Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Serpina5'

305633

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 #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

104067372-104072396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104070116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 338 (T338A)

Ref Sequence

ENSEMBL: ENSMUSP00000021495 (fasta)

Gene Model

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

AlphaFold

P70458

Predicted Effect

probably benign
Transcript: ENSMUST00000021495
AA Change: T338A

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: T338A

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	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
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