Mutagenetix > Incidental Mutations

Incidental Mutation 'R0217:Serpina3b'

33632

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

038466-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0217 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104130727 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 89 (A89V)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085052
AA Change: A89V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: A89V

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

Meta Mutation Damage Score

0.8304

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,407,413		probably benign	Het
Adamts13	A	G	2: 26,996,921		probably benign	Het
Afap1l1	A	G	18: 61,746,869	V310A	probably damaging	Het
Alms1	T	A	6: 85,622,930	S2048R	probably damaging	Het
Aspm	T	A	1: 139,457,880	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,300,430	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,713,098		probably benign	Het
Cdc23	T	C	18: 34,651,665	T15A	unknown	Het
Cdk19	C	T	10: 40,476,258		probably benign	Het
Comp	A	C	8: 70,378,908	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,343,466		probably benign	Het
Eci3	A	C	13: 34,948,089	S259A	probably benign	Het
Fcnb	T	C	2: 28,079,677	D126G	probably benign	Het
Foxk1	T	C	5: 142,401,894	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,968,034	Y61C	probably damaging	Het
Gm498	T	C	7: 143,894,219		probably benign	Het
Hmgcr	A	C	13: 96,651,980	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311	E100G	probably damaging	Het
Itgb2	G	T	10: 77,548,536		probably benign	Het
Jak2	T	A	19: 29,296,650		probably null	Het
Lrba	T	C	3: 86,642,722	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,617,037	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,256,975		probably null	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Megf8	T	A	7: 25,364,079	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,428,574		probably benign	Het
Olfr390	T	A	11: 73,787,388	V150E	possibly damaging	Het
Olfr491	C	A	7: 108,317,298	H135N	probably benign	Het
Olfr746	A	G	14: 50,654,095	N286S	probably damaging	Het
Pank3	T	A	11: 35,777,728	D181E	probably benign	Het
Pip5k1a	A	G	3: 95,073,991		probably null	Het
Plag1	A	C	4: 3,904,379	S271A	probably benign	Het
Plxna2	T	A	1: 194,644,598	I280N	probably damaging	Het
Polr1a	T	C	6: 71,963,703	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,920,735	D428E	probably damaging	Het
Prelid2	A	T	18: 41,935,252		probably benign	Het
Ptk2b	T	C	14: 66,156,381	Y881C	probably damaging	Het
Rptor	T	C	11: 119,894,912		probably benign	Het
Sbno1	T	C	5: 124,404,324		probably null	Het
Scaf4	T	C	16: 90,242,682	D843G	probably damaging	Het
Serpinb9d	C	A	13: 33,198,022	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,835,540	V201I	probably benign	Het
Slc6a13	T	A	6: 121,324,320	N189K	probably damaging	Het
Smco1	G	T	16: 32,273,781	R90L	possibly damaging	Het
Stim1	T	A	7: 102,435,800	M653K	probably benign	Het
Stxbp1	T	C	2: 32,801,870	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,559,132		noncoding transcript	Het
Tgtp1	A	C	11: 48,987,319	S186R	probably benign	Het
Trpc7	C	T	13: 56,789,768	W570*	probably null	Het
Trpv4	C	A	5: 114,634,661	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,378,800	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,637,020	V653E	probably damaging	Het
Zfp113	T	C	5: 138,150,691	R64G	probably benign	Het
Zfp661	C	T	2: 127,577,291	E310K	probably damaging	Het
Zfp735	T	A	11: 73,711,286	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,212,664	L863P	probably damaging	Het
Zzef1	T	A	11: 72,889,068	I1889N	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
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
R8360:Serpina3b	UTSW	12	104138703	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTAGGAATGCACAATGCAGTCCAG -3'
(R):5'- TGAAGACCTCAGTGTGGTACAGAGC -3'

Sequencing Primer
(F):5'- TGCAGTCCAGAAAGGCCAG -3'
(R):5'- TGAACTCTGCCAGGATCTGC -3'

Posted On

2013-05-09