Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Serpinb9e'

34800

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9e

Ensembl Gene

ENSMUSG00000062342

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9e

Synonyms

Spi14, ovalbumin, NK26

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0257 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

33249612-33260850 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33257681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 199 (M199L)

Ref Sequence

ENSEMBL: ENSMUSP00000071769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071873]

AlphaFold

O08806

Predicted Effect

probably benign
Transcript: ENSMUST00000071873
AA Change: M199L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: M199L

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.82e-168	SMART

Meta Mutation Damage Score

0.7191

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Serpinb9e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Serpinb9e	APN	13	33255125	missense	probably damaging	0.97
IGL02352:Serpinb9e	APN	13	33257820	splice site	probably benign
IGL02359:Serpinb9e	APN	13	33257820	splice site	probably benign
IGL02604:Serpinb9e	APN	13	33257759	missense	probably benign	0.00
IGL02859:Serpinb9e	APN	13	33251650	missense	possibly damaging	0.83
R0751:Serpinb9e	UTSW	13	33259774	missense	probably benign	0.00
R1101:Serpinb9e	UTSW	13	33260088	missense	probably benign	0.10
R1170:Serpinb9e	UTSW	13	33257752	nonsense	probably null
R1184:Serpinb9e	UTSW	13	33259774	missense	probably benign	0.00
R1253:Serpinb9e	UTSW	13	33255119	missense	possibly damaging	0.77
R1405:Serpinb9e	UTSW	13	33260026	missense	probably benign
R1405:Serpinb9e	UTSW	13	33260026	missense	probably benign
R1463:Serpinb9e	UTSW	13	33255116	missense	probably benign
R1566:Serpinb9e	UTSW	13	33253494	missense	probably damaging	1.00
R1924:Serpinb9e	UTSW	13	33253445	missense	probably benign	0.07
R1964:Serpinb9e	UTSW	13	33253491	missense	probably benign	0.04
R2153:Serpinb9e	UTSW	13	33252978	missense	probably damaging	1.00
R2405:Serpinb9e	UTSW	13	33260080	missense	probably benign
R2972:Serpinb9e	UTSW	13	33255143	missense	probably benign
R2973:Serpinb9e	UTSW	13	33255143	missense	probably benign
R2974:Serpinb9e	UTSW	13	33255143	missense	probably benign
R3854:Serpinb9e	UTSW	13	33255154	missense	probably benign	0.40
R4173:Serpinb9e	UTSW	13	33255158	missense	probably damaging	0.97
R4937:Serpinb9e	UTSW	13	33252952	missense	probably benign	0.11
R4949:Serpinb9e	UTSW	13	33251608	missense	possibly damaging	0.81
R5347:Serpinb9e	UTSW	13	33257784	missense	probably damaging	1.00
R5976:Serpinb9e	UTSW	13	33255129	missense	probably benign
R5979:Serpinb9e	UTSW	13	33255053	missense	probably benign	0.18
R5991:Serpinb9e	UTSW	13	33259807	missense	probably damaging	1.00
R6059:Serpinb9e	UTSW	13	33257774	missense	probably benign	0.29
R6884:Serpinb9e	UTSW	13	33251626	missense	probably benign	0.33
R8007:Serpinb9e	UTSW	13	33251622	missense	probably benign	0.27
R8504:Serpinb9e	UTSW	13	33255109	missense	probably benign
R9802:Serpinb9e	UTSW	13	33255095	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCGTCCTtgtgctagttgttgc -3'
(R):5'- CAGAATCTCCTGGCTTACCTTGCTG -3'

Sequencing Primer
(F):5'- gactgaaaaatcccaaagaacaaac -3'
(R):5'- GATGTCCACACCCTGATCTGG -3'

Posted On

2013-05-09