Mutagenetix > Incidental Mutation

Incidental Mutation 'R5374:Serpina3j'

428959

Institutional Source

Beutler Lab

Gene Symbol

Serpina3j

Ensembl Gene

ENSMUSG00000079013

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J

Synonyms

alpha-1 antiproteinase, Gm4931

MMRRC Submission

042950-MU

Accession Numbers

Essential gene?

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

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104280812-104286984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104280986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109957]

AlphaFold

D3Z451

Predicted Effect

probably damaging
Transcript: ENSMUST00000109957
AA Change: D53G

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

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: D53G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	417	6.65e-153	SMART

Meta Mutation Damage Score

0.7235

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Astn2	A	C	4: 65,315,242 (GRCm39)	V1145G	probably damaging	Het
Babam2	C	T	5: 32,164,574 (GRCm39)		probably benign	Het
Blvrb	A	G	7: 27,165,271 (GRCm39)	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,596,228 (GRCm39)	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Clcn2	C	A	16: 20,528,419 (GRCm39)	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cox7c	T	C	13: 86,194,739 (GRCm39)	Y19C	probably benign	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,043,205 (GRCm39)	V864A	possibly damaging	Het
Dock7	A	G	4: 98,877,275 (GRCm39)	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Entpd2	C	T	2: 25,289,738 (GRCm39)	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Ginm1	A	G	10: 7,655,078 (GRCm39)	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,734,148 (GRCm39)		probably null	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm8221	A	G	15: 77,510,352 (GRCm39)		noncoding transcript	Het
Gramd1c	A	G	16: 43,803,604 (GRCm39)	V603A	probably benign	Het
Grm1	A	G	10: 10,956,186 (GRCm39)	S33P	probably benign	Het
Gstp3	T	C	19: 4,107,922 (GRCm39)	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Nom1	C	G	5: 29,646,377 (GRCm39)	R555G	probably damaging	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or52e18	G	T	7: 104,609,203 (GRCm39)	H245Q	probably damaging	Het
Or5p52	T	C	7: 107,502,698 (GRCm39)	I258T	possibly damaging	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,590,695 (GRCm39)	S466T	probably benign	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rhobtb3	T	C	13: 76,027,014 (GRCm39)	Y453C	probably damaging	Het
Rspry1	T	C	8: 95,349,636 (GRCm39)	V8A	probably benign	Het
Rspry1	C	A	8: 95,380,892 (GRCm39)	R399S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Sap18b	G	A	8: 96,551,998 (GRCm39)	A3T	unknown	Het
Skint3	T	A	4: 112,155,386 (GRCm39)	D381E	possibly damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,736,158 (GRCm39)	N1764K	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Ticrr	T	G	7: 79,340,690 (GRCm39)	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Trpm3	C	T	19: 22,903,548 (GRCm39)	R945*	probably null	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Ush2a	C	T	1: 188,487,403 (GRCm39)	T3057M	probably benign	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Serpina3j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Serpina3j	APN	12	104,284,750 (GRCm39)	missense	probably damaging	1.00
IGL01923:Serpina3j	APN	12	104,281,473 (GRCm39)	splice site	probably benign
IGL01965:Serpina3j	APN	12	104,281,063 (GRCm39)	missense	probably benign
IGL03135:Serpina3j	APN	12	104,281,166 (GRCm39)	missense	probably damaging	1.00
IGL03242:Serpina3j	APN	12	104,285,960 (GRCm39)	missense	possibly damaging	0.88
R0036:Serpina3j	UTSW	12	104,283,606 (GRCm39)	missense	probably benign	0.08
R0638:Serpina3j	UTSW	12	104,281,078 (GRCm39)	missense	possibly damaging	0.93
R0648:Serpina3j	UTSW	12	104,280,938 (GRCm39)	missense	probably benign	0.01
R1874:Serpina3j	UTSW	12	104,285,958 (GRCm39)	missense	probably benign	0.00
R2212:Serpina3j	UTSW	12	104,280,985 (GRCm39)	missense	probably damaging	0.99
R3013:Serpina3j	UTSW	12	104,285,966 (GRCm39)	missense	probably damaging	1.00
R3808:Serpina3j	UTSW	12	104,286,086 (GRCm39)	missense	probably benign	0.14
R3928:Serpina3j	UTSW	12	104,285,916 (GRCm39)	missense	probably damaging	1.00
R4234:Serpina3j	UTSW	12	104,281,445 (GRCm39)	missense	probably benign	0.14
R4966:Serpina3j	UTSW	12	104,286,043 (GRCm39)	nonsense	probably null
R5373:Serpina3j	UTSW	12	104,280,986 (GRCm39)	missense	probably damaging	1.00
R5771:Serpina3j	UTSW	12	104,281,185 (GRCm39)	missense	possibly damaging	0.71
R5993:Serpina3j	UTSW	12	104,280,946 (GRCm39)	missense	probably benign	0.26
R6151:Serpina3j	UTSW	12	104,283,649 (GRCm39)	missense	possibly damaging	0.69
R6246:Serpina3j	UTSW	12	104,283,706 (GRCm39)	missense	probably damaging	1.00
R6982:Serpina3j	UTSW	12	104,283,556 (GRCm39)	missense	probably benign	0.31
R7111:Serpina3j	UTSW	12	104,283,792 (GRCm39)	missense	probably damaging	1.00
R8183:Serpina3j	UTSW	12	104,284,754 (GRCm39)	nonsense	probably null
R8411:Serpina3j	UTSW	12	104,281,043 (GRCm39)	missense	probably benign	0.06
R8915:Serpina3j	UTSW	12	104,281,309 (GRCm39)	missense	probably benign	0.00
R9489:Serpina3j	UTSW	12	104,286,093 (GRCm39)	missense	probably damaging	0.97
R9605:Serpina3j	UTSW	12	104,286,093 (GRCm39)	missense	probably damaging	0.97
R9750:Serpina3j	UTSW	12	104,280,942 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAACCCTGTGAGACTGGAATG -3'
(R):5'- CTCAGGGGTCTCTGTCAGATTG -3'

Sequencing Primer
(F):5'- TCTTTCAGGCTGGAGAACATAG -3'
(R):5'- GTCTCTGTCAGATTGAACTTGAGACC -3'

Posted On

2016-09-06