Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Serpina3b'

652163

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: 0.064) question?

Stock #

R8360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104138703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 379 (N379K)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: N379K

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

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: N379K

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: 99.5%
20x: 98.5%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	C	T	19: 21,678,524	Q57*	probably null	Het
Acad8	C	T	9: 26,979,056	A288T	possibly damaging	Het
Adamtsl3	G	A	7: 82,547,979	C711Y	probably damaging	Het
Ahcyl2	C	A	6: 29,768,870	D111E	probably benign	Het
Asxl3	T	C	18: 22,516,117	F388L	probably benign	Het
Bcr	T	A	10: 75,145,439	S697T	probably damaging	Het
C77080	C	T	4: 129,224,202	R268Q	possibly damaging	Het
Casc4	A	T	2: 121,867,151		probably benign	Het
Catspere2	G	A	1: 178,015,158	V50M	possibly damaging	Het
Dgka	C	A	10: 128,728,128	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,757,707	C617S	unknown	Het
Erich3	C	A	3: 154,764,354	T1481K	unknown	Het
Hdac2	T	A	10: 36,998,063	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,297,408	D294V	possibly damaging	Het
Hnf1a	A	G	5: 114,953,332	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,569,966	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,499,767	K672E	probably damaging	Het
Kif16b	G	A	2: 142,711,857	A1007V	probably benign	Het
Kif26b	T	C	1: 178,916,373	S1345P	probably benign	Het
Lrrc28	A	T	7: 67,641,161	D37E	probably benign	Het
Mlx	G	T	11: 101,087,314		probably benign	Het
Muc16	T	C	9: 18,525,258	H7878R	probably benign	Het
Mybpc1	C	A	10: 88,573,497	E32*	probably null	Het
Nebl	C	T	2: 17,460,487	V18M	probably benign	Het
Nlrp3	T	C	11: 59,549,403	V602A	probably benign	Het
Npepps	G	A	11: 97,229,839	P532S	probably benign	Het
Olfr1055	T	C	2: 86,347,324	I147M	possibly damaging	Het
Olfr27	C	T	9: 39,144,465	R122*	probably null	Het
Olfr834	T	A	9: 18,988,843	M285K	probably benign	Het
Pfdn1	G	A	18: 36,451,161	T40M	probably benign	Het
Pkd2	G	T	5: 104,459,787	E51*	probably null	Het
Prss40	T	A	1: 34,560,795	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,152,346	C808*	probably null	Het
Rab3gap2	A	T	1: 185,267,073		probably benign	Het
Sall3	C	T	18: 80,974,017	R232H	probably benign	Het
Sbk3	A	G	7: 4,967,708	F221L	probably damaging	Het
Sema7a	T	G	9: 57,955,691		probably benign	Het
Ssbp4	A	G	8: 70,599,389	L208P	probably benign	Het
Stxbp5	C	T	10: 9,812,259		probably null	Het
Tecrl	A	G	5: 83,300,917	Y160H	probably damaging	Het
Tnc	T	C	4: 63,967,274	I1773V	probably benign	Het
Ush2a	A	G	1: 188,466,271	T1511A	probably benign	Het
Utp15	T	C	13: 98,254,991	N246S	probably damaging	Het
Vmn1r49	C	T	6: 90,073,009	A4T	probably benign	Het
Vmn2r57	A	T	7: 41,400,216	I703N	probably damaging	Het
Wdr93	A	G	7: 79,749,226	D36G	probably damaging	Het
Zfp334	A	G	2: 165,383,358	I8T	probably benign	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
R7817:Serpina3b	UTSW	12	104132964	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104131076	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104130534	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AATTGGCCAGCAGATGAGGC -3'
(R):5'- AGTCAAGGGCACTGTTTGATTAC -3'

Sequencing Primer
(F):5'- CAGCAGATGAGGCCAGCAC -3'
(R):5'- TGCCACAGCCTATGAGAGGG -3'

Posted On

2020-10-20