Mutagenetix > Incidental Mutation

Incidental Mutation 'R7817:Serpina3b'

601605

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

Accession Numbers

Is this an essential gene?

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

Stock #

R7817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104132964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 246 (N246S)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: N246S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: N246S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,909,476	V338A	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bivm	G	T	1: 44,126,401	A4S	probably benign	Het
Cacng3	G	A	7: 122,768,599	R234Q	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cftr	A	G	6: 18,267,968	D642G	probably damaging	Het
Cltc	A	G	11: 86,725,123	V443A	probably damaging	Het
Csmd3	C	T	15: 47,857,960	R1425H	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Dscam	T	C	16: 96,640,864	T1588A	probably benign	Het
Gabra4	A	G	5: 71,640,863	M207T	probably damaging	Het
Galnt3	A	G	2: 66,095,899	Y322H	probably damaging	Het
Glud1	A	T	14: 34,329,287		probably null	Het
Gm47189	A	G	14: 41,770,054	Y89H	probably damaging	Het
Klhl1	A	T	14: 96,136,750	M620K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Mocs2	A	G	13: 114,820,846	E62G	probably damaging	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Nek10	C	T	14: 15,001,017	P1066S	probably benign	Het
Nfxl1	T	C	5: 72,514,289	K876E	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,279	F182I	probably damaging	Het
Nlrc3	C	T	16: 3,965,463	G60S	possibly damaging	Het
Notch2	T	C	3: 98,107,127	Y666H	probably damaging	Het
Olfr1160	T	C	2: 88,006,011	I247V	probably benign	Het
Pars2	T	A	4: 106,654,079	Y353N	probably damaging	Het
Pcdhb11	A	G	18: 37,423,909	E764G	probably damaging	Het
Pcdhb3	T	A	18: 37,302,929	D649E	probably benign	Het
Pde7b	T	G	10: 20,443,305	R90S	probably damaging	Het
Pik3r5	T	C	11: 68,493,657	V625A	probably damaging	Het
Prdm9	G	A	17: 15,559,049	R113W	probably damaging	Het
Psg26	A	G	7: 18,482,647	V89A	not run	Het
Rad1	T	C	15: 10,493,318	V277A	probably benign	Het
Rb1	A	T	14: 73,198,543	L894Q	probably damaging	Het
Rorb	A	T	19: 18,988,096	C10S	probably damaging	Het
Ryk	C	T	9: 102,891,233	Q361*	probably null	Het
Srr	A	G	11: 74,908,698	V317A	possibly damaging	Het
Timd2	A	T	11: 46,670,954	C288S	probably benign	Het
Tomm70a	C	T	16: 57,144,773	A440V	probably damaging	Het
Trim62	T	C	4: 128,900,685	V215A	probably benign	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Unc13d	A	T	11: 116,076,283	V91D	probably damaging	Het
Vmn1r159	T	A	7: 22,843,062	I182F	possibly damaging	Het
Vmn1r230	T	A	17: 20,846,561	V4D	probably benign	Het
Zfp27	T	C	7: 29,896,390	Y50C	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp518b	T	C	5: 38,672,398	I755V	not run	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
R5827:Serpina3b	UTSW	12	104130777	missense	probably benign	0.02
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
R7748:Serpina3b	UTSW	12	104130463	start codon destroyed	probably null	1.00
R8040:Serpina3b	UTSW	12	104131076	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104130534	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104138703	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCATATGCCACTCTGAGG -3'
(R):5'- GGGCCTCAAAGATTTCCTCC -3'

Sequencing Primer
(F):5'- ATATGCCACTCTGAGGGACACTG -3'
(R):5'- AAAGATTTCCTCCACTTCTTCAGGG -3'

Posted On

2019-12-03