Mutagenetix > Incidental Mutations

Incidental Mutation 'R6893:Serpina3b'

538173

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 #

R6893 (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 104133026 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 267 (K267E)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085052
AA Change: K267E

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: K267E

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: 99.8%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 24,878,754	D538V	probably damaging	Het
Akap9	T	C	5: 3,961,709	I804T	probably benign	Het
Amy1	T	C	3: 113,563,632	E186G	probably benign	Het
Best1	A	G	19: 9,997,082	Y33H	probably damaging	Het
Cacna1s	C	A	1: 136,077,693	N405K	probably benign	Het
Casp7	T	C	19: 56,433,309	Y60H	probably damaging	Het
Ccdc61	T	C	7: 18,892,563	N367S	possibly damaging	Het
Cnksr3	A	T	10: 7,135,129		probably null	Het
Col14a1	A	C	15: 55,444,648		probably benign	Het
Cyp3a57	A	T	5: 145,386,974	K424*	probably null	Het
Dpep3	T	C	8: 105,973,842	K411E	probably benign	Het
Ebf2	T	A	14: 67,237,559	V81E	probably benign	Het
Ehbp1	G	T	11: 22,014,945	T1084K	probably damaging	Het
Fastkd2	C	T	1: 63,731,794	A103V	possibly damaging	Het
Gm13762	A	G	2: 88,973,799	F31L	probably benign	Het
Gtf3c2	T	C	5: 31,166,378	K525E	probably benign	Het
Hdac2	A	G	10: 36,997,007	E287G	probably damaging	Het
Ifi207	T	A	1: 173,727,642	T832S	possibly damaging	Het
Igf1	G	C	10: 87,864,860	V49L	probably damaging	Het
Lef1	A	G	3: 131,115,500	D55G	possibly damaging	Het
Lipo2	G	T	19: 33,721,007	Y323*	probably null	Het
Mettl24	C	T	10: 40,737,798	R178C	probably damaging	Het
Nat6	A	G	9: 107,583,026	E40G	probably damaging	Het
Ndrg4	C	A	8: 95,706,601	C66*	probably null	Het
Nemf	A	G	12: 69,352,336	V140A	probably benign	Het
Nid2	T	A	14: 19,789,787	F815I	probably benign	Het
Olfr1076	A	G	2: 86,508,792	E111G	probably damaging	Het
Olfr1459	A	C	19: 13,145,742	S306A	probably benign	Het
Olfr876	A	C	9: 37,804,845	*311C	probably null	Het
Olfr918	A	T	9: 38,673,059	N141K	possibly damaging	Het
Pcdhga3	T	C	18: 37,676,545	S684P	probably benign	Het
Plch1	A	T	3: 63,753,141	C352*	probably null	Het
Plscr2	G	A	9: 92,290,704	V139I	probably benign	Het
Ppa1	T	A	10: 61,672,403	C270S	probably benign	Het
Ryr2	T	A	13: 11,829,654	M399L	possibly damaging	Het
Scn3a	A	G	2: 65,525,754	V212A	possibly damaging	Het
Shroom3	A	G	5: 92,942,204	T938A	probably damaging	Het
Specc1	A	C	11: 62,132,453	S115R	probably benign	Het
Stim2	C	T	5: 54,053,445	T74I	probably benign	Het
Sult6b2	T	A	6: 142,804,299	D31V	possibly damaging	Het
Tbc1d24	A	T	17: 24,182,518	W406R	probably damaging	Het
Tmprss11b	A	G	5: 86,663,386		probably null	Het
Trappc9	A	G	15: 72,925,650	Y575H	possibly damaging	Het
Trim63	C	T	4: 134,323,101	T232M	probably damaging	Het
Ttn	A	T	2: 76,767,836	S19578T	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr63	T	C	3: 146,080,429	E366G	probably damaging	Het
Xpo4	T	A	14: 57,582,310	E1139D	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
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'- GCCTCATCTTTAGCGGAATGG -3'
(R):5'- TCTGATGACACTTTAACCACTACAC -3'

Sequencing Primer
(F):5'- GATGGTGCCTTTTAACTCTGATGAC -3'
(R):5'- TAACCACTACACTAGACATAAGTGAG -3'

Posted On

2018-11-06