Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Serpina3k'

509057

Institutional Source

Beutler Lab

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

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104304745-104311998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104306981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 71 (N71I)

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: N71I

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

SMART Domains

Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: N71I

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

Meta Mutation Damage Score

0.9361

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	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
IGL01404: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
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

Predicted Primers

PCR Primer
(F):5'- TTTTCTTTCCAGCCTGAAGAAC -3'
(R):5'- TGGCTGAGACTCTGTAGGAG -3'

Sequencing Primer
(F):5'- AAGATGGCCTTCATTGTAGCTATG -3'
(R):5'- CTCTGTAGGAGGTTGCCAAAGC -3'

Posted On

2018-04-02