Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01923:Serpina3j'

180186

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 #

IGL01923

Quality Score

Status

Chromosome

Chromosomal Location

104280812-104286984 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 104281473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

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

AlphaFold

D3Z451

Predicted Effect

probably benign
Transcript: ENSMUST00000109957

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	A	5: 129,255,143 (GRCm39)	S597T	possibly damaging	Het
Btnl9	T	C	11: 49,071,409 (GRCm39)	D138G	probably benign	Het
Cep135	T	A	5: 76,788,829 (GRCm39)	*1141K	probably null	Het
Ctnnd2	A	T	15: 30,480,974 (GRCm39)	Q74L	probably damaging	Het
Cyp2j13	A	T	4: 95,950,294 (GRCm39)	W236R	probably benign	Het
Dixdc1	A	T	9: 50,606,803 (GRCm39)	I271N	possibly damaging	Het
Dlec1	A	G	9: 118,957,182 (GRCm39)		probably null	Het
Dnah9	C	A	11: 66,016,061 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,404,920 (GRCm39)	Y275F	probably damaging	Het
Dysf	T	A	6: 84,187,811 (GRCm39)	*2105R	probably null	Het
Eif4a1	A	T	11: 69,563,129 (GRCm39)	D25E	possibly damaging	Het
Fras1	T	A	5: 96,883,139 (GRCm39)	I2557N	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm12253	G	T	11: 58,325,727 (GRCm39)		probably null	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hsd17b7	A	G	1: 169,787,035 (GRCm39)	V254A	probably benign	Het
Kif21a	T	A	15: 90,840,633 (GRCm39)	D143V	probably damaging	Het
Lrrc9	T	C	12: 72,557,186 (GRCm39)	V1417A	possibly damaging	Het
Macf1	C	T	4: 123,274,237 (GRCm39)	A4926T	possibly damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Myh7	A	G	14: 55,222,916 (GRCm39)		probably null	Het
Or6c65	T	A	10: 129,603,973 (GRCm39)	F203I	probably benign	Het
Pbx2	A	G	17: 34,813,024 (GRCm39)	D160G	probably damaging	Het
Pcdhb17	T	C	18: 37,619,790 (GRCm39)	F527L	probably benign	Het
Ppm1b	T	C	17: 85,301,489 (GRCm39)	L123P	probably damaging	Het
Ppm1k	T	A	6: 57,499,813 (GRCm39)	K154N	probably benign	Het
Ppp2r1a	T	G	17: 21,185,731 (GRCm39)	*590G	probably null	Het
Raver1	A	T	9: 20,990,536 (GRCm39)	L589Q	probably damaging	Het
Rrbp1	A	G	2: 143,832,081 (GRCm39)	S29P	probably damaging	Het
Senp5	A	G	16: 31,784,634 (GRCm39)	Y673H	probably damaging	Het
Serpinc1	A	G	1: 160,817,116 (GRCm39)	E70G	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stag3	A	G	5: 138,287,492 (GRCm39)	Q139R	probably damaging	Het
Sva	T	A	6: 42,019,104 (GRCm39)	H91Q	probably benign	Het
Tmem263	C	T	10: 84,950,295 (GRCm39)	Q29*	probably null	Het
Tpp1	T	C	7: 105,400,857 (GRCm39)	N57D	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	A	6: 124,177,484 (GRCm39)	I507L	probably benign	Het
Wdr11	A	T	7: 129,234,046 (GRCm39)		probably null	Het
Zfp236	C	T	18: 82,700,344 (GRCm39)	E42K	probably 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
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

2014-05-07