Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Serpina3b'

583803

Institutional Source

Beutler Lab

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3B

Synonyms

alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik

MMRRC Submission

045611-MU

Accession Numbers

Essential gene?

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

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104094255-104105804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104096970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 84 (S84P)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085052
AA Change: S84P

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: S84P

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Abcf3	T	C	16: 20,371,382 (GRCm39)		probably null	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ap5m1	C	A	14: 49,311,014 (GRCm39)	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,434,457 (GRCm39)	D83G	probably benign	Het
Birc6	T	C	17: 74,956,691 (GRCm39)	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,975,203 (GRCm39)	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 44,915,445 (GRCm39)	E67V	probably benign	Het
Cep112	A	G	11: 108,746,654 (GRCm39)	M133V	probably benign	Het
Ckmt2	C	A	13: 92,008,063 (GRCm39)	D224Y	probably damaging	Het
Cplane1	A	G	15: 8,230,728 (GRCm39)	I1002V	probably benign	Het
Crb1	T	G	1: 139,175,967 (GRCm39)	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,370,119 (GRCm39)	S4515P	probably damaging	Het
Dock9	A	G	14: 121,818,848 (GRCm39)	S1545P	probably damaging	Het
Dop1a	T	G	9: 86,403,626 (GRCm39)	S145A	probably benign	Het
Eps8l1	T	C	7: 4,473,036 (GRCm39)	S92P	probably damaging	Het
Faap100	T	C	11: 120,268,464 (GRCm39)	D103G	possibly damaging	Het
Fech	T	A	18: 64,616,565 (GRCm39)		probably null	Het
Folh1	T	A	7: 86,375,117 (GRCm39)	E623V	probably benign	Het
Galnt5	T	C	2: 57,925,242 (GRCm39)	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10577	C	T	4: 100,877,893 (GRCm39)	V1I	unknown	Het
Grip1	T	A	10: 119,890,776 (GRCm39)	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,191,586 (GRCm39)	A955V	probably damaging	Het
Hpd	G	C	5: 123,316,255 (GRCm39)	Y165*	probably null	Het
Iqsec1	C	A	6: 90,639,873 (GRCm39)	R955L	probably benign	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,576,770 (GRCm39)	T20M		Het
Myo16	T	C	8: 10,411,095 (GRCm39)		probably null	Het
Nfkb2	T	C	19: 46,296,662 (GRCm39)	F273L	possibly damaging	Het
Nherf2	G	T	17: 24,860,873 (GRCm39)	A223D	probably damaging	Het
Or11l3	A	T	11: 58,516,782 (GRCm39)	I29N	probably damaging	Het
Or1l8	T	C	2: 36,817,221 (GRCm39)	R302G	probably benign	Het
Or2a56	T	C	6: 42,933,037 (GRCm39)	C202R	possibly damaging	Het
Or4k49	T	C	2: 111,494,778 (GRCm39)	V69A	possibly damaging	Het
Or52ab7	A	G	7: 102,977,701 (GRCm39)	S3G	probably benign	Het
Or52e3	T	C	7: 102,869,273 (GRCm39)	V116A	possibly damaging	Het
Or5b124	C	T	19: 13,610,933 (GRCm39)	Q153*	probably null	Het
Or6c2	A	T	10: 129,362,974 (GRCm39)	K293*	probably null	Het
Or6c69	T	C	10: 129,747,932 (GRCm39)	T72A	probably damaging	Het
Or7e174	A	T	9: 20,012,915 (GRCm39)	M287L	probably benign	Het
Parp4	T	A	14: 56,873,212 (GRCm39)	I1152N	probably damaging	Het
Peg3	T	C	7: 6,711,167 (GRCm39)	T1352A	probably benign	Het
Pik3c2a	T	C	7: 115,939,331 (GRCm39)	N1669S	probably damaging	Het
Pinx1	A	T	14: 64,156,655 (GRCm39)	Q194L	probably benign	Het
Podxl2	A	C	6: 88,826,311 (GRCm39)	S268A	probably benign	Het
Polr2c	C	A	8: 95,597,407 (GRCm39)	H363N	unknown	Het
Prlr	C	T	15: 10,329,109 (GRCm39)	T528I	probably benign	Het
Rab37	A	C	11: 115,051,487 (GRCm39)	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,595 (GRCm39)		probably null	Het
Stat4	A	T	1: 52,110,868 (GRCm39)		probably null	Het
Them6	T	C	15: 74,595,349 (GRCm39)	I185T	probably damaging	Het
Tmco4	T	A	4: 138,749,010 (GRCm39)	M316K	probably benign	Het
Tmtc4	G	T	14: 123,215,701 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,667,668 (GRCm39)	N248K	probably benign	Het
Trim43a	T	A	9: 88,465,096 (GRCm39)	L141Q	probably benign	Het
Utp20	C	T	10: 88,627,607 (GRCm39)	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,899,853 (GRCm39)	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,197 (GRCm39)	I441N	unknown	Het
Wfikkn2	T	C	11: 94,133,185 (GRCm39)	D64G	probably damaging	Het
Zfp128	C	A	7: 12,624,479 (GRCm39)	Y282*	probably null	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104,105,046 (GRCm39)	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104,099,200 (GRCm39)	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104,099,216 (GRCm39)	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104,097,091 (GRCm39)	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104,096,721 (GRCm39)	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104,097,313 (GRCm39)	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104,097,030 (GRCm39)	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104,096,986 (GRCm39)	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104,096,929 (GRCm39)	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104,097,138 (GRCm39)	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104,104,969 (GRCm39)	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104,104,896 (GRCm39)	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104,105,069 (GRCm39)	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104,105,047 (GRCm39)	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104,096,889 (GRCm39)	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104,097,036 (GRCm39)	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104,100,350 (GRCm39)	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104,097,356 (GRCm39)	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104,100,428 (GRCm39)	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104,096,928 (GRCm39)	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104,099,251 (GRCm39)	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104,100,341 (GRCm39)	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104,099,285 (GRCm39)	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104,099,145 (GRCm39)	missense	probably benign	0.03
R7748:Serpina3b	UTSW	12	104,096,722 (GRCm39)	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104,099,223 (GRCm39)	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104,097,335 (GRCm39)	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104,096,793 (GRCm39)	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104,104,962 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATCTGCCCTGCTGTCATC -3'
(R):5'- TCTGCAGGTGCTTTTCAACAAAC -3'

Sequencing Primer
(F):5'- TCTGCTGCTCAGATGGCACAC -3'
(R):5'- GTGCTTTTCAACAAACAGGGC -3'

Posted On

2019-10-17