Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Serpina3b'

93048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3B

Synonyms

antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104132957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 244 (T244A)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085052]

AlphaFold

Q8BYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: T244A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: T244A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	56	417	1.1e-153	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684 (GRCm38)	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700 (GRCm38)	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286 (GRCm38)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832 (GRCm38)	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455 (GRCm38)	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461 (GRCm38)	W468R	probably damaging	Het
C6	A	G	15: 4,759,917 (GRCm38)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710 (GRCm38)	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473 (GRCm38)	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813 (GRCm38)		probably null	Het
Dpp7	T	C	2: 25,354,613 (GRCm38)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507 (GRCm38)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525 (GRCm38)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm38)	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667 (GRCm38)	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079 (GRCm38)	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205 (GRCm38)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825 (GRCm38)		probably benign	Het
Gbp2b	A	G	3: 142,598,312 (GRCm38)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409 (GRCm38)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358 (GRCm38)		probably benign	Het
Gm7293	A	G	9: 51,623,606 (GRCm38)		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633 (GRCm38)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545 (GRCm38)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733 (GRCm38)		probably benign	Het
Ighv7-1	T	A	12: 113,896,503 (GRCm38)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583 (GRCm38)	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853 (GRCm38)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368 (GRCm38)	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679 (GRCm38)		probably null	Het
Lrriq1	G	A	10: 103,215,628 (GRCm38)	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871 (GRCm38)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532 (GRCm38)		probably benign	Het
Myo18b	T	A	5: 112,840,629 (GRCm38)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120 (GRCm38)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378 (GRCm38)	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060 (GRCm38)	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988 (GRCm38)	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103 (GRCm38)	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177 (GRCm38)	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610 (GRCm38)	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964 (GRCm38)	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056 (GRCm38)	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034 (GRCm38)	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901 (GRCm38)	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348 (GRCm38)		probably benign	Het
Rassf4	A	G	6: 116,641,690 (GRCm38)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438 (GRCm38)	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238 (GRCm38)	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171 (GRCm38)	D788E	probably benign	Het
Setd1b	T	C	5: 123,148,513 (GRCm38)	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707 (GRCm38)	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354 (GRCm38)	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629 (GRCm38)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085 (GRCm38)	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191 (GRCm38)	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654 (GRCm38)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900 (GRCm38)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm38)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064 (GRCm38)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948 (GRCm38)	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736 (GRCm38)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646 (GRCm38)	H676R	probably benign	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104,138,787 (GRCm38)	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104,132,941 (GRCm38)	missense	probably benign	0.06
IGL01738:Serpina3b	APN	12	104,130,832 (GRCm38)	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104,130,462 (GRCm38)	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104,131,054 (GRCm38)	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104,130,771 (GRCm38)	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104,130,727 (GRCm38)	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104,130,670 (GRCm38)	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104,130,879 (GRCm38)	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104,138,710 (GRCm38)	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104,138,637 (GRCm38)	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104,138,810 (GRCm38)	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104,138,788 (GRCm38)	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104,130,630 (GRCm38)	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104,130,777 (GRCm38)	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104,134,091 (GRCm38)	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104,131,097 (GRCm38)	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104,134,169 (GRCm38)	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104,130,669 (GRCm38)	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104,132,992 (GRCm38)	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104,134,082 (GRCm38)	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104,133,026 (GRCm38)	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104,132,886 (GRCm38)	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104,130,711 (GRCm38)	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104,130,463 (GRCm38)	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104,132,964 (GRCm38)	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104,131,076 (GRCm38)	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104,130,534 (GRCm38)	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104,138,703 (GRCm38)	missense	probably benign	0.00

Posted On

2013-12-09