Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Serpina3k'

181444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina3k

Ensembl Gene

ENSMUSG00000058207

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3K

Synonyms

RP54, MMSpi2, MMCM2, alpha-1 antiproteinase, D12Rp54, contrapsin, 1300001I07Rik, Spi-2, Spi2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

104338486-104346144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104341057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 183 (V183M)

Ref Sequence

ENSEMBL: ENSMUSP00000042095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043058
AA Change: V183M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: V183M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	57	417	4.77e-195	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101078

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	417	3.12e-199	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Serpina3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Serpina3k	APN	12	104343110	missense	probably benign	0.36
IGL01402:Serpina3k	APN	12	104340623	missense	probably benign	0.00
IGL01404:Serpina3k	APN	12	104340623	missense	probably benign	0.00
IGL02031:Serpina3k	APN	12	104345266	missense	probably benign	0.08
IGL02055:Serpina3k	APN	12	104341036	nonsense	probably null
IGL02981:Serpina3k	APN	12	104340991	missense	probably benign	0.02
IGL03269:Serpina3k	APN	12	104340521	missense	possibly damaging	0.83
R1076:Serpina3k	UTSW	12	104340994	missense	probably benign	0.00
R2360:Serpina3k	UTSW	12	104340907	nonsense	probably null
R3816:Serpina3k	UTSW	12	104340962	missense	probably benign	0.08
R4577:Serpina3k	UTSW	12	104344192	missense	possibly damaging	0.94
R4656:Serpina3k	UTSW	12	104345273	missense	probably damaging	1.00
R4732:Serpina3k	UTSW	12	104340860	missense	probably damaging	1.00
R4733:Serpina3k	UTSW	12	104340860	missense	probably damaging	1.00
R4916:Serpina3k	UTSW	12	104343010	missense	probably damaging	1.00
R4999:Serpina3k	UTSW	12	104341046	missense	probably damaging	1.00
R5053:Serpina3k	UTSW	12	104343214	critical splice donor site	probably null
R6300:Serpina3k	UTSW	12	104340722	missense	probably damaging	1.00
R6343:Serpina3k	UTSW	12	104345303	missense	probably benign
R6851:Serpina3k	UTSW	12	104345366	missense	probably benign	0.00
R6858:Serpina3k	UTSW	12	104345245	missense	possibly damaging	0.85
R6872:Serpina3k	UTSW	12	104344260	missense	probably benign	0.25
R6992:Serpina3k	UTSW	12	104341107	missense	probably benign	0.00
R7025:Serpina3k	UTSW	12	104341142	missense	probably benign	0.01
R7050:Serpina3k	UTSW	12	104341144	missense	possibly damaging	0.96
R7238:Serpina3k	UTSW	12	104343108	missense	probably damaging	1.00
R7240:Serpina3k	UTSW	12	104340602	missense	probably benign	0.05
R7469:Serpina3k	UTSW	12	104345335	missense	not run
R8837:Serpina3k	UTSW	12	104343033	missense	probably benign	0.00
R9025:Serpina3k	UTSW	12	104340971	missense	probably damaging	1.00
R9497:Serpina3k	UTSW	12	104343171	missense	probably benign	0.01
X0019:Serpina3k	UTSW	12	104340575	missense	probably benign	0.01

Posted On

2014-05-07