Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02159:Serpina5'

282351

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

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

104101113-104106137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104105298 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 388 (L388P)

Ref Sequence

ENSEMBL: ENSMUSP00000021495 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021495
AA Change: L388P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: L388P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175615

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in Serpina5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Serpina5	APN	12	104105220	missense	probably damaging	1.00
IGL01138:Serpina5	APN	12	104103744	missense	possibly damaging	0.60
IGL01526:Serpina5	APN	12	104101890	missense	probably damaging	1.00
IGL02351:Serpina5	APN	12	104102125	missense	probably damaging	1.00
IGL02358:Serpina5	APN	12	104102125	missense	probably damaging	1.00
IGL02735:Serpina5	APN	12	104103857	missense	probably benign	0.21
IGL03087:Serpina5	APN	12	104101733	missense	probably benign	0.01
R0189:Serpina5	UTSW	12	104103330	missense	probably damaging	1.00
R0304:Serpina5	UTSW	12	104103200	missense	possibly damaging	0.76
R0492:Serpina5	UTSW	12	104102133	missense	probably damaging	1.00
R0511:Serpina5	UTSW	12	104103362	missense	probably benign	0.00
R0611:Serpina5	UTSW	12	104103787	missense	probably benign
R1016:Serpina5	UTSW	12	104105323	missense	probably damaging	0.97
R1649:Serpina5	UTSW	12	104105225	missense	possibly damaging	0.94
R1970:Serpina5	UTSW	12	104103857	missense	probably benign	0.02
R4429:Serpina5	UTSW	12	104103406	missense	probably benign	0.00
R4805:Serpina5	UTSW	12	104102201	missense	probably damaging	0.97
R5608:Serpina5	UTSW	12	104103744	missense	probably damaging	1.00
R6226:Serpina5	UTSW	12	104101778	missense	possibly damaging	0.72
R7097:Serpina5	UTSW	12	104102295	critical splice donor site	probably null
R7357:Serpina5	UTSW	12	104103380	missense	possibly damaging	0.85
R8208:Serpina5	UTSW	12	104105273	missense	probably benign	0.00

Posted On

2015-04-16