Mutagenetix > Incidental Mutation

Incidental Mutation 'R6807:Serpina3b'

533620

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

044920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104132992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 255 (E255D)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: E255D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: E255D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.9%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,391,530	T2158A	probably benign	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
Apol7a	T	C	15: 77,393,320		probably null	Het
Bicdl1	C	T	5: 115,672,143		probably null	Het
Bop1	T	A	15: 76,454,983	Q362L	probably damaging	Het
C4b	T	C	17: 34,730,956	D1418G	probably benign	Het
Cdh23	A	G	10: 60,378,871	V1455A	possibly damaging	Het
Cecr2	T	G	6: 120,734,542		probably null	Het
Cer1	T	C	4: 82,882,815	S204G	probably benign	Het
Cers3	G	C	7: 66,764,220	W15C	probably damaging	Het
Csn1s2a	A	T	5: 87,781,872	H110L	probably benign	Het
Dnah10	T	G	5: 124,790,000		probably null	Het
Dync2h1	T	C	9: 7,041,718	N3315S	probably benign	Het
Dynlrb2	T	C	8: 116,507,560	M21T	probably benign	Het
Emilin1	T	A	5: 30,915,527	F103I	probably benign	Het
Esrra	T	A	19: 6,911,774	M416L	probably benign	Het
Etaa1	C	A	11: 17,952,680	V86L	probably benign	Het
Extl3	A	G	14: 65,076,762	S324P	probably damaging	Het
Fam90a1a	T	C	8: 21,963,352	V241A	probably benign	Het
Fat4	C	A	3: 38,982,440	Q3414K	probably benign	Het
Gm12166	T	C	11: 46,052,032	Q88R	probably damaging	Het
Gm13101	A	G	4: 143,965,011	S381P	probably damaging	Het
Gpr162	C	T	6: 124,861,201	R162H	probably damaging	Het
Gpr21	T	A	2: 37,517,962	Y173*	probably null	Het
Gprc6a	G	A	10: 51,626,745	Q341*	probably null	Het
Herc2	T	A	7: 56,164,922	S2674R	probably damaging	Het
Hnrnpdl	A	T	5: 100,039,136	H9Q	probably null	Het
Hps1	A	G	19: 42,770,778	V125A	possibly damaging	Het
Iba57	G	T	11: 59,158,614	P243H	probably damaging	Het
Incenp	G	T	19: 9,877,756	A597E	unknown	Het
Kat6a	T	A	8: 22,940,368	M1913K	unknown	Het
Klb	G	A	5: 65,379,534	V736M	probably damaging	Het
Krt33a	T	A	11: 100,012,383	T278S	possibly damaging	Het
Krt73	T	G	15: 101,796,407	E348A	probably damaging	Het
Lig3	T	A	11: 82,783,751	D134E	probably benign	Het
Limd2	T	C	11: 106,158,945	T73A	probably benign	Het
Lrpprc	A	G	17: 84,749,103	S787P	possibly damaging	Het
Macf1	A	G	4: 123,374,415	M6735T	probably damaging	Het
Mapkbp1	C	A	2: 120,021,159	Q861K	probably damaging	Het
Mc4r	T	A	18: 66,859,856	N62I	probably damaging	Het
Metap1d	G	A	2: 71,511,514	V151I	probably damaging	Het
Nek2	T	C	1: 191,822,617	V147A	probably damaging	Het
Nlrp1b	A	T	11: 71,217,704	W324R	probably damaging	Het
Nol4l	G	T	2: 153,483,826	S113*	probably null	Het
Oc90	T	A	15: 65,889,614	D185V	probably damaging	Het
Olfr1025-ps1	A	T	2: 85,918,038	T38S	possibly damaging	Het
Olfr1243	G	A	2: 89,527,588	T274M	probably damaging	Het
Olfr150	A	T	9: 39,737,618	K268*	probably null	Het
Olfr437	T	C	6: 43,167,238	F60S	probably damaging	Het
Olfr470	T	A	7: 107,845,590	T48S	possibly damaging	Het
Olfr56	G	A	11: 49,134,978	R262K	probably damaging	Het
Pcdha8	A	G	18: 36,994,348	T628A	probably damaging	Het
Pcsk5	A	T	19: 17,572,622		probably null	Het
Pdgfrb	T	C	18: 61,078,649		probably null	Het
Pgm3	A	T	9: 86,556,502		probably null	Het
Pin1rt1	T	A	2: 104,714,718	Y23F	probably benign	Het
Poli	T	A	18: 70,530,151		probably null	Het
Pom121	C	A	5: 135,381,124		probably benign	Het
Ppp2r5c	A	G	12: 110,569,022	D407G	possibly damaging	Het
Rgs12	A	G	5: 35,023,171	D116G	probably null	Het
Slc46a1	A	G	11: 78,466,964	H281R	probably damaging	Het
Spata6	T	C	4: 111,784,815	I294T	probably benign	Het
Srgap1	T	A	10: 121,828,726		probably null	Het
Stag1	C	T	9: 100,944,850	R957C	probably damaging	Het
Stk35	G	A	2: 129,801,653	E186K	probably damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tenm4	G	A	7: 96,895,271	V2165I	probably damaging	Het
Tmem53	T	C	4: 117,268,331	S207P	probably benign	Het
Ugt2a3	A	G	5: 87,336,758	F136L	probably benign	Het
Unc13d	T	C	11: 116,066,751	K795E	probably damaging	Het
Zbtb11	C	A	16: 55,990,502	T341K	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
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'- AATGGATGGATTTCAGAAGCTAACC -3'
(R):5'- GTACAGGGACCCATTTCTGG -3'

Sequencing Primer
(F):5'- TTCAGAAGCTAACCATATATAGGGAG -3'
(R):5'- GCCTCAAAGATTTCCTCC -3'

Posted On

2018-09-12