Mutagenetix > Incidental Mutations

Incidental Mutation 'R5827:Serpina3b'

450224

Institutional Source

Beutler Lab

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

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

Synonyms

antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1

MMRRC Submission

043218-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104130777 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: T106A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: T106A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Agl	T	C	3: 116,781,054	I34V	probably damaging	Het
Cavin4	A	T	4: 48,672,074	D173V	probably damaging	Het
Chd9	A	G	8: 90,989,450	D884G	probably damaging	Het
Col6a5	G	A	9: 105,928,120	R1196*	probably null	Het
Disc1	T	C	8: 125,135,365	L492P	probably damaging	Het
Dscam	A	G	16: 96,649,991		probably null	Het
Fbxw4	T	C	19: 45,579,657	T26A	probably benign	Het
Hist1h1t	A	G	13: 23,696,202	K113E	possibly damaging	Het
Klhl24	T	A	16: 20,120,121	Y475*	probably null	Het
Map4k3	C	T	17: 80,593,283		probably null	Het
Mfsd6	T	C	1: 52,662,392	E633G	probably damaging	Het
Mycn	G	A	12: 12,939,793	R201*	probably null	Het
Nek11	T	C	9: 105,314,745	I155M	probably damaging	Het
Notch2	G	A	3: 98,072,862	V231I	possibly damaging	Het
Npnt	A	C	3: 132,906,775	V187G	possibly damaging	Het
Nr1d2	C	A	14: 18,222,248	V8L	possibly damaging	Het
Nup188	C	T	2: 30,339,847	T1359I	probably damaging	Het
Olfr1029	C	A	2: 85,975,306	P21Q	probably benign	Het
Olfr1277	A	T	2: 111,269,921	W149R	probably damaging	Het
Olfr164	T	A	16: 19,286,432	I104L	probably benign	Het
Olfr957	T	A	9: 39,511,058	I221F	probably damaging	Het
P2rx2	C	T	5: 110,340,329	R453Q	probably benign	Het
Pcdhb7	A	G	18: 37,342,024	E71G	probably benign	Het
Pcdhb9	A	T	18: 37,401,958	D335V	possibly damaging	Het
Pcsk9	C	T	4: 106,448,947	G368R	probably damaging	Het
Ptgr2	G	A	12: 84,295,336		probably null	Het
Rhebl1	T	A	15: 98,878,270	I168F	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,422	I530V	probably benign	Het
Skint10	T	C	4: 112,746,775	T72A	probably benign	Het
Slx4	G	T	16: 4,001,284	F8L	possibly damaging	Het
Tdp2	T	C	13: 24,831,853	L41P	probably damaging	Het
Tiam2	A	G	17: 3,448,489	I847V	probably benign	Het
Tmem200c	A	G	17: 68,842,009	E529G	probably benign	Het
Tnpo1	T	C	13: 98,856,908	D590G	probably damaging	Het
Ube2cbp	T	C	9: 86,372,436	T331A	possibly damaging	Het
Ugt1a2	T	A	1: 88,201,065	S143R	probably damaging	Het
Zfp58	A	T	13: 67,491,293	C360S	probably damaging	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104138787	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104132941	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104132957	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104130832	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104130462	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104131054	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104130771	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104130727	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104130670	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104130879	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104138710	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104138637	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104138810	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104138788	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104130630	missense	possibly damaging	0.80
R5970:Serpina3b	UTSW	12	104134091	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104131097	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104134169	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104130669	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104132992	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104134082	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104133026	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104132886	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104130711	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CAATGCAGTCCAGAAAGGCC -3'
(R):5'- AGACCTCAGTGTGGTACAGAG -3'

Sequencing Primer
(F):5'- AGTTTAACACTGGCTTCCATCAAC -3'
(R):5'- CTCAGTGTGGTACAGAGCCCTTG -3'

Posted On

2016-12-20