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

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

104304745-104311998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104307316 bp (GRCm39)

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: 95,629,659 (GRCm39)	I29T	probably damaging	Het
Agps	G	A	2: 75,740,045 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,393,794 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,992,273 (GRCm39)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,852,853 (GRCm39)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,806,125 (GRCm39)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm39)	E674G	possibly damaging	Het
Atat1	T	A	17: 36,219,735 (GRCm39)		probably benign	Het
Ccar1	G	A	10: 62,626,714 (GRCm39)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,321,001 (GRCm39)	D14G	probably damaging	Het
Cdh15	T	C	8: 123,586,089 (GRCm39)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,168,326 (GRCm39)	T525A	possibly damaging	Het
Dnah8	T	G	17: 31,074,869 (GRCm39)		probably benign	Het
Dnajc10	T	A	2: 80,151,648 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,300,489 (GRCm39)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,954 (GRCm39)	T149I	probably damaging	Het
Fgd6	A	G	10: 93,974,170 (GRCm39)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,766 (GRCm39)		noncoding transcript	Het
Gnai1	A	G	5: 18,478,568 (GRCm39)	F199S	probably damaging	Het
Grb7	T	A	11: 98,345,480 (GRCm39)	V480D	probably damaging	Het
Hdc	A	G	2: 126,436,452 (GRCm39)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,479,622 (GRCm39)	N4614S	probably benign	Het
Il20ra	A	G	10: 19,634,791 (GRCm39)	D344G	probably benign	Het
Ints1	C	T	5: 139,745,843 (GRCm39)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,465,562 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,236,285 (GRCm39)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,594,326 (GRCm39)	I152V	probably benign	Het
Krtap5-2	C	A	7: 141,729,459 (GRCm39)	G74*	probably null	Het
Lrrc59	C	A	11: 94,529,354 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,710,873 (GRCm39)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,646,495 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,463,053 (GRCm39)		probably benign	Het
Myrf	A	G	19: 10,187,742 (GRCm39)		probably benign	Het
Nek11	T	C	9: 105,177,502 (GRCm39)	T250A	probably benign	Het
Nek5	A	T	8: 22,586,842 (GRCm39)	V323E	probably benign	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nup210l	T	A	3: 90,111,231 (GRCm39)	L1711Q	possibly damaging	Het
Parp8	T	G	13: 117,013,108 (GRCm39)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,269,513 (GRCm39)	Q252K	probably damaging	Het
Pianp	A	G	6: 124,977,646 (GRCm39)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,799,298 (GRCm39)	V2839A	probably damaging	Het
Poli	C	T	18: 70,659,657 (GRCm39)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,890,353 (GRCm39)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,694,386 (GRCm39)	I637V	probably benign	Het
Rasip1	A	T	7: 45,286,188 (GRCm39)	R804*	probably null	Het
Relt	A	G	7: 100,500,350 (GRCm39)	V113A	probably benign	Het
Rnf215	G	T	11: 4,090,317 (GRCm39)	C345F	probably damaging	Het
Scart2	T	C	7: 139,854,040 (GRCm39)	C348R	probably damaging	Het
Scn2a	A	G	2: 65,532,173 (GRCm39)	D595G	probably damaging	Het
Snapc4	T	C	2: 26,256,452 (GRCm39)		probably benign	Het
Sparcl1	A	T	5: 104,240,406 (GRCm39)	D339E	probably benign	Het
Tg	T	C	15: 66,631,335 (GRCm39)	F535L	probably benign	Het
Zbtb45	C	A	7: 12,740,203 (GRCm39)	A471S	probably benign	Het
Zfp106	T	A	2: 120,365,288 (GRCm39)	K373M	probably benign	Het

Other mutations in Serpina3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Serpina3k	APN	12	104,309,369 (GRCm39)	missense	probably benign	0.36
IGL01402:Serpina3k	APN	12	104,306,882 (GRCm39)	missense	probably benign	0.00
IGL01404:Serpina3k	APN	12	104,306,882 (GRCm39)	missense	probably benign	0.00
IGL02031:Serpina3k	APN	12	104,311,525 (GRCm39)	missense	probably benign	0.08
IGL02055:Serpina3k	APN	12	104,307,295 (GRCm39)	nonsense	probably null
IGL02981:Serpina3k	APN	12	104,307,250 (GRCm39)	missense	probably benign	0.02
IGL03269:Serpina3k	APN	12	104,306,780 (GRCm39)	missense	possibly damaging	0.83
R1076:Serpina3k	UTSW	12	104,307,253 (GRCm39)	missense	probably benign	0.00
R2360:Serpina3k	UTSW	12	104,307,166 (GRCm39)	nonsense	probably null
R3816:Serpina3k	UTSW	12	104,307,221 (GRCm39)	missense	probably benign	0.08
R4577:Serpina3k	UTSW	12	104,310,451 (GRCm39)	missense	possibly damaging	0.94
R4656:Serpina3k	UTSW	12	104,311,532 (GRCm39)	missense	probably damaging	1.00
R4732:Serpina3k	UTSW	12	104,307,119 (GRCm39)	missense	probably damaging	1.00
R4733:Serpina3k	UTSW	12	104,307,119 (GRCm39)	missense	probably damaging	1.00
R4916:Serpina3k	UTSW	12	104,309,269 (GRCm39)	missense	probably damaging	1.00
R4999:Serpina3k	UTSW	12	104,307,305 (GRCm39)	missense	probably damaging	1.00
R5053:Serpina3k	UTSW	12	104,309,473 (GRCm39)	critical splice donor site	probably null
R6300:Serpina3k	UTSW	12	104,306,981 (GRCm39)	missense	probably damaging	1.00
R6343:Serpina3k	UTSW	12	104,311,562 (GRCm39)	missense	probably benign
R6851:Serpina3k	UTSW	12	104,311,625 (GRCm39)	missense	probably benign	0.00
R6858:Serpina3k	UTSW	12	104,311,504 (GRCm39)	missense	possibly damaging	0.85
R6872:Serpina3k	UTSW	12	104,310,519 (GRCm39)	missense	probably benign	0.25
R6992:Serpina3k	UTSW	12	104,307,366 (GRCm39)	missense	probably benign	0.00
R7025:Serpina3k	UTSW	12	104,307,401 (GRCm39)	missense	probably benign	0.01
R7050:Serpina3k	UTSW	12	104,307,403 (GRCm39)	missense	possibly damaging	0.96
R7238:Serpina3k	UTSW	12	104,309,367 (GRCm39)	missense	probably damaging	1.00
R7240:Serpina3k	UTSW	12	104,306,861 (GRCm39)	missense	probably benign	0.05
R7469:Serpina3k	UTSW	12	104,311,594 (GRCm39)	missense	not run
R8837:Serpina3k	UTSW	12	104,309,292 (GRCm39)	missense	probably benign	0.00
R9025:Serpina3k	UTSW	12	104,307,230 (GRCm39)	missense	probably damaging	1.00
R9497:Serpina3k	UTSW	12	104,309,430 (GRCm39)	missense	probably benign	0.01
X0019:Serpina3k	UTSW	12	104,306,834 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07