Mutagenetix > Incidental Mutation

Incidental Mutation 'R6212:Serpinb6e'

503520

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6e

Ensembl Gene

ENSMUSG00000069248

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6e

Synonyms

Gm11396, ovalbumin, SPI3B

MMRRC Submission

044345-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34016328-34027391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34025220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 24 (N24Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110275] [ENSMUST00000145221]

AlphaFold

I7HJI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000110275
AA Change: N24Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: N24Y

Domain	Start	End	E-Value	Type
SERPIN	65	429	4.43e-149	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145221
AA Change: N24Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117577
Gene: ENSMUSG00000069248
AA Change: N24Y

Domain	Start	End	E-Value	Type
Pfam:Serpin	58	101	1.9e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,172,505 (GRCm39)	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,630,207 (GRCm39)	H821N	unknown	Het
Apex1	C	T	14: 51,164,350 (GRCm39)	P264S	probably benign	Het
Arhgap27	T	C	11: 103,251,698 (GRCm39)	Y10C	probably damaging	Het
Bag6	A	G	17: 35,359,278 (GRCm39)	T208A	probably benign	Het
Brd4	G	T	17: 32,421,423 (GRCm39)	P771Q	probably damaging	Het
Capn3	A	G	2: 120,307,667 (GRCm39)	S69G	probably benign	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,800,888 (GRCm39)	H2519R	probably benign	Het
Chd8	T	A	14: 52,439,155 (GRCm39)	N48I	probably damaging	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,353,255 (GRCm39)	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,584,252 (GRCm39)	D120N	probably damaging	Het
Epha6	T	C	16: 60,245,719 (GRCm39)	H160R	possibly damaging	Het
Erg	C	T	16: 95,180,022 (GRCm39)	V215I	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189 (GRCm39)	D124G	probably damaging	Het
Gapdh	T	C	6: 125,139,661 (GRCm39)	H203R	probably damaging	Het
Garin1b	T	C	6: 29,319,373 (GRCm39)	L59P	probably damaging	Het
Ggnbp2	T	C	11: 84,727,503 (GRCm39)	M42V	possibly damaging	Het
Hk2	C	A	6: 82,705,823 (GRCm39)	A827S	probably benign	Het
Hoxa5	T	C	6: 52,179,694 (GRCm39)	E227G	probably damaging	Het
Itgax	C	A	7: 127,729,504 (GRCm39)	H31N	possibly damaging	Het
Itgax	A	G	7: 127,747,025 (GRCm39)	D942G	probably benign	Het
Kars1	A	T	8: 112,726,829 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,702 (GRCm39)	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,112,445 (GRCm39)	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,067,431 (GRCm39)	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,742,224 (GRCm39)	G118S	probably damaging	Het
Ncam2	T	C	16: 81,229,650 (GRCm39)	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,673,553 (GRCm39)		probably null	Het
Nodal	C	T	10: 61,259,300 (GRCm39)	H246Y	possibly damaging	Het
Nwd1	G	A	8: 73,421,950 (GRCm39)	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,342,375 (GRCm39)	T139S	probably benign	Het
Or6z6	T	C	7: 6,491,367 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,694,585 (GRCm39)	D52G	probably damaging	Het
P3h3	T	A	6: 124,822,606 (GRCm39)	T522S	probably benign	Het
Pgap1	A	G	1: 54,554,052 (GRCm39)	F457S	probably damaging	Het
Prkce	T	C	17: 86,866,729 (GRCm39)	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070 (GRCm39)	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Slc4a8	T	C	15: 100,709,452 (GRCm39)	V937A	possibly damaging	Het
Smgc	T	A	15: 91,734,830 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,148,861 (GRCm39)	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664 (GRCm39)	Y565H	probably benign	Het
Tmem262	A	G	19: 6,130,668 (GRCm39)	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 122,742,965 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,675,057 (GRCm39)	I70T	probably damaging	Het
Whrn	A	T	4: 63,412,923 (GRCm39)	L25*	probably null	Het
Zfp326	T	A	5: 106,058,097 (GRCm39)	V412E	probably damaging	Het
Zfp831	A	G	2: 174,487,661 (GRCm39)	R779G	possibly damaging	Het

Other mutations in Serpinb6e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Serpinb6e	APN	13	34,016,785 (GRCm39)	missense	possibly damaging	0.46
IGL03174:Serpinb6e	APN	13	34,020,463 (GRCm39)	missense	probably damaging	0.99
R0018:Serpinb6e	UTSW	13	34,021,828 (GRCm39)	missense	probably damaging	1.00
R0145:Serpinb6e	UTSW	13	34,025,043 (GRCm39)	missense	probably benign	0.30
R0592:Serpinb6e	UTSW	13	34,025,057 (GRCm39)	missense	probably damaging	1.00
R0733:Serpinb6e	UTSW	13	34,025,201 (GRCm39)	missense	probably benign
R1347:Serpinb6e	UTSW	13	34,025,180 (GRCm39)	missense	possibly damaging	0.96
R1347:Serpinb6e	UTSW	13	34,025,180 (GRCm39)	missense	possibly damaging	0.96
R1651:Serpinb6e	UTSW	13	34,020,406 (GRCm39)	missense	probably benign	0.00
R1822:Serpinb6e	UTSW	13	34,017,217 (GRCm39)	missense	probably damaging	0.96
R2031:Serpinb6e	UTSW	13	34,021,733 (GRCm39)	unclassified	probably benign
R3740:Serpinb6e	UTSW	13	34,022,943 (GRCm39)	missense	probably benign	0.09
R4549:Serpinb6e	UTSW	13	34,017,214 (GRCm39)	missense	possibly damaging	0.92
R4658:Serpinb6e	UTSW	13	34,025,299 (GRCm39)	start gained	probably benign
R5149:Serpinb6e	UTSW	13	34,016,468 (GRCm39)	missense	probably damaging	0.99
R5736:Serpinb6e	UTSW	13	34,016,753 (GRCm39)	missense	probably damaging	0.96
R6060:Serpinb6e	UTSW	13	34,025,256 (GRCm39)	missense	possibly damaging	0.96
R6335:Serpinb6e	UTSW	13	34,021,805 (GRCm39)	missense	probably benign	0.44
R6818:Serpinb6e	UTSW	13	34,016,337 (GRCm39)	splice site	probably null
R7089:Serpinb6e	UTSW	13	34,016,698 (GRCm39)	missense	probably damaging	0.99
R7151:Serpinb6e	UTSW	13	34,021,818 (GRCm39)	missense	probably damaging	1.00
R7263:Serpinb6e	UTSW	13	34,022,923 (GRCm39)	missense	probably benign	0.03
R7528:Serpinb6e	UTSW	13	34,016,474 (GRCm39)	missense	possibly damaging	0.57
R7944:Serpinb6e	UTSW	13	34,016,588 (GRCm39)	missense	probably damaging	0.99
R8789:Serpinb6e	UTSW	13	34,017,213 (GRCm39)	missense	probably damaging	1.00
R8792:Serpinb6e	UTSW	13	34,022,942 (GRCm39)	missense	possibly damaging	0.59
R8794:Serpinb6e	UTSW	13	34,024,977 (GRCm39)	missense	possibly damaging	0.54
R8944:Serpinb6e	UTSW	13	34,017,261 (GRCm39)	missense	probably damaging	1.00
R8967:Serpinb6e	UTSW	13	34,020,419 (GRCm39)	missense	possibly damaging	0.90
R8989:Serpinb6e	UTSW	13	34,022,967 (GRCm39)	missense	possibly damaging	0.59
R9167:Serpinb6e	UTSW	13	34,023,009 (GRCm39)	missense	possibly damaging	0.47
R9310:Serpinb6e	UTSW	13	34,017,204 (GRCm39)	missense	probably benign
Z1177:Serpinb6e	UTSW	13	34,025,221 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCAGTGGTTCCATTTGCTCC -3'
(R):5'- ATTGGACATGCATGTAAGGTCCTTG -3'

Sequencing Primer
(F):5'- CCATTTGCTCCCATTAAGATGAGAG -3'
(R):5'- ACATGCATGTAAGGTCCTTGTTTTC -3'

Posted On

2018-02-27