Mutagenetix > Incidental Mutation

Incidental Mutation 'R8967:Serpinb6e'

682815

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

068801-MU

Accession Numbers

Essential gene?

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

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34016328-34027391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34020419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 230 (F230L)

Ref Sequence

ENSEMBL: ENSMUSP00000105904 (fasta)

Gene Model

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

AlphaFold

I7HJI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110275
AA Change: F230L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: F230L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145221

SMART Domains

Protein: ENSMUSP00000117577
Gene: ENSMUSG00000069248

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,242,696 (GRCm39)	S1520P	probably benign	Het
Abhd12	A	G	2: 150,679,351 (GRCm39)	Y291H	probably damaging	Het
Abr	C	A	11: 76,369,855 (GRCm39)	S178I	possibly damaging	Het
Akap13	T	A	7: 75,378,882 (GRCm39)	I422K	possibly damaging	Het
Arfgef2	A	T	2: 166,677,662 (GRCm39)	T185S	probably damaging	Het
Arfip2	A	T	7: 105,286,341 (GRCm39)	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,089,678 (GRCm39)	V225A	probably damaging	Het
Brf1	G	A	12: 112,937,239 (GRCm39)	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,163,297 (GRCm39)	N312S	possibly damaging	Het
Cep135	T	C	5: 76,751,165 (GRCm39)	L337P	probably damaging	Het
Cnppd1	A	T	1: 75,113,265 (GRCm39)	C334*	probably null	Het
Cpxm2	A	T	7: 131,661,564 (GRCm39)	Y408N	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,014,577 (GRCm39)	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,682,594 (GRCm39)		probably benign	Het
Dnah9	C	A	11: 66,015,938 (GRCm39)		probably null	Het
Dnai3	T	A	3: 145,761,395 (GRCm39)	N654Y	possibly damaging	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Ecel1	A	T	1: 87,078,862 (GRCm39)	Y526N	probably damaging	Het
Ect2	A	T	3: 27,199,132 (GRCm39)	V218E	probably damaging	Het
Heca	A	G	10: 17,790,738 (GRCm39)		probably null	Het
Hsd17b7	A	T	1: 169,796,685 (GRCm39)	L6*	probably null	Het
Irgc	T	A	7: 24,132,737 (GRCm39)	T27S	probably benign	Het
Lama3	A	C	18: 12,665,096 (GRCm39)	I671L	possibly damaging	Het
Mybl2	T	C	2: 162,914,806 (GRCm39)	L308P	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,582,897 (GRCm39)	P672L	probably damaging	Het
Oas3	G	A	5: 120,896,907 (GRCm39)	H905Y	probably damaging	Het
Obscn	A	G	11: 58,972,740 (GRCm39)	V2102A	probably benign	Het
Or10j3	A	G	1: 173,031,039 (GRCm39)	T39A	probably benign	Het
Or1j20	A	T	2: 36,760,066 (GRCm39)	T163S	probably damaging	Het
Or2a57	T	C	6: 43,213,073 (GRCm39)	F177S	probably damaging	Het
Or4p8	A	T	2: 88,727,844 (GRCm39)	Y32*	probably null	Het
Or6z7	A	G	7: 6,484,011 (GRCm39)	L48P	possibly damaging	Het
Pank4	C	G	4: 155,055,415 (GRCm39)	H262D	probably benign	Het
Phkb	T	A	8: 86,756,063 (GRCm39)		probably benign	Het
Pxylp1	G	A	9: 96,707,324 (GRCm39)	T286M	probably damaging	Het
Pygm	A	T	19: 6,434,744 (GRCm39)	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,056,854 (GRCm39)	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,785,084 (GRCm39)	R974Q	probably damaging	Het
Skint6	A	T	4: 112,729,701 (GRCm39)	L850*	probably null	Het
Slc7a11	C	A	3: 50,338,564 (GRCm39)	V282L	probably benign	Het
Smg1	A	G	7: 117,765,739 (GRCm39)	S1895P	unknown	Het
Tango2	A	G	16: 18,165,763 (GRCm39)		probably benign	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tmem64	T	A	4: 15,266,575 (GRCm39)	F208L	probably damaging	Het
Tpcn1	A	T	5: 120,694,023 (GRCm39)	V191E	probably damaging	Het
Zbtb41	A	G	1: 139,370,587 (GRCm39)	I675V	probably benign	Het
Zfp180	T	C	7: 23,804,726 (GRCm39)	S382P	probably damaging	Het
Zfp932	A	G	5: 110,156,883 (GRCm39)	S194G	probably benign	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
R6212:Serpinb6e	UTSW	13	34,025,220 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAATCTGGCTGCTGAACTTC -3'
(R):5'- CCTTTGCAAGTATCAGCAAATTCTG -3'

Sequencing Primer
(F):5'- TGCTGAACTTCCCAGAGACATGAG -3'
(R):5'- TCAGTGTCATCATGTCAGGAAGC -3'

Posted On

2021-10-11