Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Serpinb3d'

449834

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3d

Ensembl Gene

ENSMUSG00000058017

Gene Name

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

Synonyms

MMRRC Submission

043400-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107078167-107083506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107078359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 333 (E333A)

Ref Sequence

ENSEMBL: ENSMUSP00000023861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023861]

AlphaFold

Q6UKZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023861
AA Change: E333A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: E333A

Domain	Start	End	E-Value	Type
SERPIN	13	387	2.44e-169	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,039,526	V875A	probably benign	Het
Abcc4	A	G	14: 118,604,195	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,039,593	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgef38	A	T	3: 133,160,799	D192E	probably benign	Het
Arhgef40	T	C	14: 51,987,496	F33L	possibly damaging	Het
Arid1b	A	G	17: 4,996,254	Y439C	possibly damaging	Het
Bop1	G	A	15: 76,454,841	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,079,604	H453R	probably damaging	Het
Canx	A	G	11: 50,308,383	V153A	probably damaging	Het
Chfr	T	A	5: 110,162,739	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,149,052	K208T	probably damaging	Het
Cmya5	G	T	13: 93,092,780	N1933K	probably benign	Het
CN725425	A	G	15: 91,260,697	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,428,632	W358*	probably null	Het
Cyfip2	A	T	11: 46,200,704	W1130R	probably damaging	Het
Ddx60	A	T	8: 61,956,121	D397V	possibly damaging	Het
Disp1	T	C	1: 183,135,587	S92G	probably benign	Het
Dusp6	A	G	10: 99,264,002	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,513,488	V96M	probably damaging	Het
Ecscr	C	A	18: 35,717,267	V52F	possibly damaging	Het
Epha7	A	T	4: 28,949,365	N712I	probably damaging	Het
Eva1a	C	T	6: 82,071,173	P11S	probably benign	Het
Fam187b	T	C	7: 30,977,152	C29R	probably damaging	Het
Fau	T	C	19: 6,059,422	V117A	probably benign	Het
Fbxw11	A	G	11: 32,735,374	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,345,546	F95L	probably benign	Het
Fkbp6	A	T	5: 135,339,920		probably null	Het
Fmo9	T	C	1: 166,664,601	K367E	possibly damaging	Het
Gad2	T	C	2: 22,690,249	V554A	probably benign	Het
Gm18025	T	C	12: 34,290,632	D154G	probably benign	Het
Gm4353	A	G	7: 116,084,458	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,232,696	I459T	probably benign	Het
Hpx	A	G	7: 105,591,788	I426T	possibly damaging	Het
Hspa9	T	C	18: 34,943,174	T362A	possibly damaging	Het
Insr	G	A	8: 3,155,976	P1271L	probably damaging	Het
Jarid2	G	A	13: 44,902,301	V328I	possibly damaging	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif18b	A	G	11: 102,913,048	S429P	probably benign	Het
Lats1	A	T	10: 7,705,908	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,740,786	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,492,615	I1148T	probably damaging	Het
Map1b	T	A	13: 99,432,824	M1130L	unknown	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Myh6	T	C	14: 54,958,680	Y554C	probably damaging	Het
Myl4	T	C	11: 104,583,980	F52L	probably damaging	Het
Nol12	C	T	15: 78,940,480	T169I	probably benign	Het
Nrde2	C	T	12: 100,132,287	R707H	probably benign	Het
Oasl1	G	A	5: 114,936,978	V366M	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,599	I289T	possibly damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Polrmt	C	T	10: 79,738,323		probably null	Het
Ppil4	A	G	10: 7,810,410	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765	A69T	possibly damaging	Het
Prmt3	C	T	7: 49,848,806	P487S	probably damaging	Het
Ptprm	A	T	17: 66,689,465	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,727,848		probably benign	Het
Sec63	A	G	10: 42,796,245	D185G	possibly damaging	Het
Sema4b	T	C	7: 80,224,958	S699P	probably damaging	Het
Sh3rf2	T	C	18: 42,141,047	L426P	possibly damaging	Het
Slco6d1	A	G	1: 98,499,778	I611M	probably damaging	Het
Stk31	T	A	6: 49,417,285	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,222,707		probably null	Het
Ubqln3	G	A	7: 104,141,467	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,088,086	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,412,773	M1901V	probably benign	Het
Zfp407	A	T	18: 84,560,524	D821E	probably benign	Het

Other mutations in Serpinb3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Serpinb3d	APN	1	107079666	missense	probably damaging	1.00
IGL01917:Serpinb3d	APN	1	107079681	missense	probably damaging	1.00
IGL02732:Serpinb3d	APN	1	107082796	critical splice acceptor site	probably null
IGL02988:Serpinb3d	UTSW	1	107078536	missense	probably benign
R0540:Serpinb3d	UTSW	1	107079232	missense	probably benign	0.01
R0594:Serpinb3d	UTSW	1	107079347	missense	probably damaging	1.00
R1666:Serpinb3d	UTSW	1	107080751	missense	probably benign	0.18
R1668:Serpinb3d	UTSW	1	107080751	missense	probably benign	0.18
R1905:Serpinb3d	UTSW	1	107079284	missense	possibly damaging	0.71
R1994:Serpinb3d	UTSW	1	107080788	missense	possibly damaging	0.52
R2021:Serpinb3d	UTSW	1	107078452	missense	probably benign	0.05
R2022:Serpinb3d	UTSW	1	107078452	missense	probably benign	0.05
R3760:Serpinb3d	UTSW	1	107081574	splice site	probably benign
R4118:Serpinb3d	UTSW	1	107079230	missense	possibly damaging	0.58
R4496:Serpinb3d	UTSW	1	107079292	missense	probably damaging	0.98
R4770:Serpinb3d	UTSW	1	107078278	missense	probably damaging	1.00
R4793:Serpinb3d	UTSW	1	107078221	missense	probably damaging	1.00
R5174:Serpinb3d	UTSW	1	107078498	missense	possibly damaging	0.63
R5434:Serpinb3d	UTSW	1	107078533	missense	probably benign	0.02
R5813:Serpinb3d	UTSW	1	107079297	missense	probably benign	0.14
R5935:Serpinb3d	UTSW	1	107083375	missense	probably benign	0.00
R6056:Serpinb3d	UTSW	1	107079722	missense	probably damaging	1.00
R6092:Serpinb3d	UTSW	1	107079259	missense	probably damaging	1.00
R6188:Serpinb3d	UTSW	1	107078507	missense	probably damaging	0.98
R6247:Serpinb3d	UTSW	1	107082760	missense	probably benign	0.01
R6369:Serpinb3d	UTSW	1	107080753	missense	probably benign	0.00
R6476:Serpinb3d	UTSW	1	107083341	missense	probably benign	0.09
R7178:Serpinb3d	UTSW	1	107080776	missense	possibly damaging	0.72
R7743:Serpinb3d	UTSW	1	107079358	missense	probably damaging	0.99
R7765:Serpinb3d	UTSW	1	107079782	missense	probably damaging	1.00
R8371:Serpinb3d	UTSW	1	107080739	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACTCCAGTTAAGGGGAAG -3'
(R):5'- ACTGCTGACAAGTTACTACAGTG -3'

Sequencing Primer
(F):5'- CTCCAGTTAAGGGGAAGACACTCTG -3'
(R):5'- CTGACAAGTTACTACAGTGGACAAG -3'

Posted On

2016-12-20