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: 0.050) question?

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104314553-104320725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104314727 bp (GRCm38)

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: 138,067,635 (GRCm38)	S862G	probably benign	Het
2410089E03Rik	T	C	15: 8,270,803 (GRCm38)	V3198A	unknown	Het
Adgrf1	G	A	17: 43,291,005 (GRCm38)		probably benign	Het
Adss	T	G	1: 177,796,388 (GRCm38)	I3L	probably benign	Het
Anapc7	T	A	5: 122,438,217 (GRCm38)	D302E	probably benign	Het
Ank3	A	G	10: 69,953,476 (GRCm38)		probably null	Het
Astn2	A	C	4: 65,397,005 (GRCm38)	V1145G	probably damaging	Het
Babam2	C	T	5: 32,007,230 (GRCm38)		probably benign	Het
Blvrb	A	G	7: 27,465,846 (GRCm38)	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,706,216 (GRCm38)	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,463,409 (GRCm38)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,912 (GRCm38)	S613R	probably damaging	Het
Cisd2	A	G	3: 135,408,835 (GRCm38)	V125A	probably benign	Het
Clcn2	C	A	16: 20,709,669 (GRCm38)	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,107,969 (GRCm38)	H1121Q	probably benign	Het
Corin	A	T	5: 72,304,953 (GRCm38)	C876S	probably damaging	Het
Cox7c	T	C	13: 86,046,620 (GRCm38)	Y19C	probably benign	Het
Cspp1	T	G	1: 10,134,126 (GRCm38)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,504,938 (GRCm38)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,823,614 (GRCm38)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,369,189 (GRCm38)		probably benign	Het
Dock5	A	G	14: 67,805,756 (GRCm38)	V864A	possibly damaging	Het
Dock7	A	G	4: 98,989,038 (GRCm38)	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,361,036 (GRCm38)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,651,613 (GRCm38)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,984,625 (GRCm38)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 105,012,932 (GRCm38)	I151N	probably damaging	Het
Entpd2	C	T	2: 25,399,726 (GRCm38)	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,286,800 (GRCm38)	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,446,391 (GRCm38)	T348A	probably benign	Het
Ginm1	A	G	10: 7,779,314 (GRCm38)	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,657,084 (GRCm38)		probably null	Het
Gm15433	T	A	1: 84,964,112 (GRCm38)		noncoding transcript	Het
Gm8221	A	G	15: 77,626,152 (GRCm38)		noncoding transcript	Het
Gramd1c	A	G	16: 43,983,241 (GRCm38)	V603A	probably benign	Het
Grm1	A	G	10: 11,080,442 (GRCm38)	S33P	probably benign	Het
Gstp3	T	C	19: 4,057,922 (GRCm38)	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995 (GRCm38)	P756S	probably benign	Het
Ly75	A	T	2: 60,311,771 (GRCm38)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,163,963 (GRCm38)	K378N	probably damaging	Het
Mn1	A	G	5: 111,421,886 (GRCm38)		probably null	Het
Mpo	T	C	11: 87,803,611 (GRCm38)		probably null	Het
Nom1	C	G	5: 29,441,379 (GRCm38)	R555G	probably damaging	Het
Nsmce4a	C	T	7: 130,538,170 (GRCm38)	R276Q	probably benign	Het
Nt5c	G	A	11: 115,490,817 (GRCm38)		probably null	Het
Olfr472	T	C	7: 107,903,491 (GRCm38)	I258T	possibly damaging	Het
Olfr670	G	T	7: 104,959,996 (GRCm38)	H245Q	probably damaging	Het
Olfr908	CACAACAACA	CACAACA	9: 38,516,138 (GRCm38)		probably benign	Het
Pcdhga4	T	C	18: 37,685,596 (GRCm38)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,312,561 (GRCm38)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,186,395 (GRCm38)	C222S	probably benign	Het
Plch1	A	C	3: 63,698,078 (GRCm38)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,007,503 (GRCm38)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,251,186 (GRCm38)	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,355 (GRCm38)	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,706,494 (GRCm38)	S466T	probably benign	Het
Rgsl1	C	T	1: 153,790,307 (GRCm38)	V986I	probably benign	Het
Rhobtb3	T	C	13: 75,878,895 (GRCm38)	Y453C	probably damaging	Het
Rspry1	C	A	8: 94,654,264 (GRCm38)	R399S	probably benign	Het
Rspry1	T	C	8: 94,623,008 (GRCm38)	V8A	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Rxfp2	A	G	5: 150,070,260 (GRCm38)	T596A	probably benign	Het
Sap18b	G	A	8: 95,825,370 (GRCm38)	A3T	unknown	Het
Skint3	T	A	4: 112,298,189 (GRCm38)	D381E	possibly damaging	Het
Slirp	T	C	12: 87,449,422 (GRCm38)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,770,728 (GRCm38)	E128G	probably damaging	Het
Stap1	A	G	5: 86,090,928 (GRCm38)	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,851,957 (GRCm38)	N1764K	probably damaging	Het
Thap2	A	T	10: 115,372,839 (GRCm38)	Y125*	probably null	Het
Ticrr	T	G	7: 79,690,942 (GRCm38)	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,740,156 (GRCm38)	R1793C	unknown	Het
Trpm3	C	T	19: 22,926,184 (GRCm38)	R945*	probably null	Het
Ugt1a10	T	A	1: 88,055,910 (GRCm38)	D143E	probably damaging	Het
Ush2a	C	T	1: 188,755,206 (GRCm38)	T3057M	probably benign	Het
Zc3h6	A	T	2: 129,002,156 (GRCm38)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,913,510 (GRCm38)	S628P	probably benign	Het
Zufsp	T	C	10: 33,927,466 (GRCm38)	N541D	possibly damaging	Het

Other mutations in Serpina3j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Serpina3j	APN	12	104,318,491 (GRCm38)	missense	probably damaging	1.00
IGL01923:Serpina3j	APN	12	104,315,214 (GRCm38)	splice site	probably benign
IGL01965:Serpina3j	APN	12	104,314,804 (GRCm38)	missense	probably benign
IGL03135:Serpina3j	APN	12	104,314,907 (GRCm38)	missense	probably damaging	1.00
IGL03242:Serpina3j	APN	12	104,319,701 (GRCm38)	missense	possibly damaging	0.88
R0036:Serpina3j	UTSW	12	104,317,347 (GRCm38)	missense	probably benign	0.08
R0638:Serpina3j	UTSW	12	104,314,819 (GRCm38)	missense	possibly damaging	0.93
R0648:Serpina3j	UTSW	12	104,314,679 (GRCm38)	missense	probably benign	0.01
R1874:Serpina3j	UTSW	12	104,319,699 (GRCm38)	missense	probably benign	0.00
R2212:Serpina3j	UTSW	12	104,314,726 (GRCm38)	missense	probably damaging	0.99
R3013:Serpina3j	UTSW	12	104,319,707 (GRCm38)	missense	probably damaging	1.00
R3808:Serpina3j	UTSW	12	104,319,827 (GRCm38)	missense	probably benign	0.14
R3928:Serpina3j	UTSW	12	104,319,657 (GRCm38)	missense	probably damaging	1.00
R4234:Serpina3j	UTSW	12	104,315,186 (GRCm38)	missense	probably benign	0.14
R4966:Serpina3j	UTSW	12	104,319,784 (GRCm38)	nonsense	probably null
R5373:Serpina3j	UTSW	12	104,314,727 (GRCm38)	missense	probably damaging	1.00
R5771:Serpina3j	UTSW	12	104,314,926 (GRCm38)	missense	possibly damaging	0.71
R5993:Serpina3j	UTSW	12	104,314,687 (GRCm38)	missense	probably benign	0.26
R6151:Serpina3j	UTSW	12	104,317,390 (GRCm38)	missense	possibly damaging	0.69
R6246:Serpina3j	UTSW	12	104,317,447 (GRCm38)	missense	probably damaging	1.00
R6982:Serpina3j	UTSW	12	104,317,297 (GRCm38)	missense	probably benign	0.31
R7111:Serpina3j	UTSW	12	104,317,533 (GRCm38)	missense	probably damaging	1.00
R8183:Serpina3j	UTSW	12	104,318,495 (GRCm38)	nonsense	probably null
R8411:Serpina3j	UTSW	12	104,314,784 (GRCm38)	missense	probably benign	0.06
R8915:Serpina3j	UTSW	12	104,315,050 (GRCm38)	missense	probably benign	0.00
R9489:Serpina3j	UTSW	12	104,319,834 (GRCm38)	missense	probably damaging	0.97
R9605:Serpina3j	UTSW	12	104,319,834 (GRCm38)	missense	probably damaging	0.97
R9750:Serpina3j	UTSW	12	104,314,683 (GRCm38)	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