Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01783:Serpina3j'

154213

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL01783

Quality Score

Status

Chromosome

Chromosomal Location

104280812-104286984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104284750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 309 (L309P)

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

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

AlphaFold

D3Z451

Predicted Effect

probably damaging
Transcript: ENSMUST00000109957
AA Change: L309P

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

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: L309P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,037,900 (GRCm39)	Y166H	possibly damaging	Het
Abi3bp	G	A	16: 56,353,332 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,624 (GRCm39)	T157A	probably benign	Het
Adam26b	T	C	8: 43,974,798 (GRCm39)	K68R	probably benign	Het
Adgrg7	A	G	16: 56,568,282 (GRCm39)		probably null	Het
Ano6	T	C	15: 95,860,143 (GRCm39)	I755T	possibly damaging	Het
Basp1	T	C	15: 25,364,953 (GRCm39)	N15D	unknown	Het
Bod1l	T	C	5: 41,966,055 (GRCm39)	N2670S	probably benign	Het
Btbd3	T	A	2: 138,125,656 (GRCm39)	I280N	probably damaging	Het
Cdh16	T	A	8: 105,344,488 (GRCm39)	Y17F	probably damaging	Het
Clmp	G	T	9: 40,693,703 (GRCm39)	G307W	possibly damaging	Het
Clrn2	C	A	5: 45,617,503 (GRCm39)	Q125K	probably benign	Het
Ctnna3	C	T	10: 63,656,248 (GRCm39)	A276V	possibly damaging	Het
Dram2	A	T	3: 106,480,972 (GRCm39)	T172S	possibly damaging	Het
Dync2h1	G	A	9: 7,118,822 (GRCm39)		probably benign	Het
Ezr	T	C	17: 7,009,888 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,275,257 (GRCm39)	D352E	probably damaging	Het
Gbe1	T	C	16: 70,198,743 (GRCm39)		probably null	Het
Gpr18	T	A	14: 122,149,789 (GRCm39)	M79L	probably benign	Het
Gss	T	C	2: 155,413,479 (GRCm39)	Y196C	probably damaging	Het
Gtpbp1	T	C	15: 79,600,398 (GRCm39)	S444P	probably damaging	Het
Hecw1	C	T	13: 14,452,878 (GRCm39)	R712K	probably damaging	Het
Helz2	T	G	2: 180,874,674 (GRCm39)	D1940A	probably damaging	Het
Hmcn1	A	T	1: 150,491,051 (GRCm39)	V4166E	possibly damaging	Het
Klkb1	T	C	8: 45,729,428 (GRCm39)	Y297C	probably damaging	Het
Krt75	T	A	15: 101,473,364 (GRCm39)	I537F	probably benign	Het
Lrp1b	T	A	2: 41,202,584 (GRCm39)	T1176S	probably damaging	Het
Nid2	T	C	14: 19,818,745 (GRCm39)	L413P	probably benign	Het
Or10ag57	T	A	2: 87,218,187 (GRCm39)	M46K	possibly damaging	Het
Or10ag57	G	T	2: 87,218,182 (GRCm39)	L44F	probably benign	Het
Or4c11	T	C	2: 88,695,186 (GRCm39)	L79P	probably damaging	Het
Or5t7	A	G	2: 86,507,425 (GRCm39)	V84A	probably benign	Het
Piwil1	A	G	5: 128,820,890 (GRCm39)	N272D	probably benign	Het
Ppfia3	T	C	7: 45,009,481 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,602,089 (GRCm39)	V389A	probably damaging	Het
Sema3a	C	A	5: 13,611,767 (GRCm39)	S344R	probably damaging	Het
Slc15a1	A	G	14: 121,708,688 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,759 (GRCm39)	A205S	probably benign	Het
Speer4a1	T	A	5: 26,240,045 (GRCm39)	Q235L	possibly damaging	Het
St6gal1	A	G	16: 23,140,305 (GRCm39)	T159A	probably benign	Het
Tbrg1	G	T	9: 37,565,596 (GRCm39)	P119T	possibly damaging	Het
Tmem59l	T	C	8: 70,939,874 (GRCm39)	T32A	probably damaging	Het
Trmt13	G	A	3: 116,376,561 (GRCm39)	R277*	probably null	Het
Zfp316	A	G	5: 143,248,631 (GRCm39)	F205S	unknown	Het
Zfp418	G	T	7: 7,184,448 (GRCm39)	W137L	possibly damaging	Het
Zp3r	A	T	1: 130,526,603 (GRCm39)	V200D	possibly damaging	Het

Other mutations in Serpina3j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5374: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

Posted On

2014-02-04