Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Serpina3k'

278384

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 #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

104304745-104311998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104306882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

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: D38G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: D38G

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably damaging	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
IGL01958:Serpina3k	APN	12	104,307,316 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16