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

alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

104094255-104105804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104099216 bp (GRCm39)

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: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104,105,046 (GRCm39)	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104,099,200 (GRCm39)	missense	probably benign	0.06
IGL01738:Serpina3b	APN	12	104,097,091 (GRCm39)	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104,096,721 (GRCm39)	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104,097,313 (GRCm39)	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104,097,030 (GRCm39)	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104,096,986 (GRCm39)	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104,096,929 (GRCm39)	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104,097,138 (GRCm39)	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104,104,969 (GRCm39)	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104,104,896 (GRCm39)	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104,105,069 (GRCm39)	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104,105,047 (GRCm39)	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104,096,889 (GRCm39)	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104,097,036 (GRCm39)	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104,100,350 (GRCm39)	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104,097,356 (GRCm39)	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104,100,428 (GRCm39)	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104,096,928 (GRCm39)	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104,099,251 (GRCm39)	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104,100,341 (GRCm39)	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104,099,285 (GRCm39)	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104,099,145 (GRCm39)	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104,096,970 (GRCm39)	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104,096,722 (GRCm39)	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104,099,223 (GRCm39)	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104,097,335 (GRCm39)	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104,096,793 (GRCm39)	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104,104,962 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09