Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Serpina3k'

563160

Institutional Source

Beutler Lab

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104338486-104346144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104340602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 31 (I31S)

Ref Sequence

ENSEMBL: ENSMUSP00000042095 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043058
AA Change: I31S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: I31S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	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
IGL01958:Serpina3k	APN	12	104341057	missense	probably damaging	1.00
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
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
X0019:Serpina3k	UTSW	12	104340575	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGATGGAGTACTGCACCTG -3'
(R):5'- AAAGCCCTGGTGGATGTCTG -3'

Sequencing Primer
(F):5'- TGTGGGCAGTCACAGAGTC -3'
(R):5'- GAGGCCTTCTAAAATCTCTTCCATGG -3'

Posted On

2019-06-26