Mutagenetix > Incidental Mutation

Incidental Mutation 'R0733:Serpinb6e'

67126

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

038914-MU

Accession Numbers

Essential gene?

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

Stock #

R0733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34016328-34027391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34025201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 30 (N30I)

Ref Sequence

ENSEMBL: ENSMUSP00000117577 (fasta)

Gene Model

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

AlphaFold

I7HJI3

Predicted Effect

probably benign
Transcript: ENSMUST00000110275
AA Change: N30I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: N30I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145221
AA Change: N30I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117577
Gene: ENSMUSG00000069248
AA Change: N30I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,668,957 (GRCm39)	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,579,783 (GRCm39)	I476V	possibly damaging	Het
Apba2	T	C	7: 64,399,912 (GRCm39)	I689T	probably damaging	Het
AU018091	A	G	7: 3,209,001 (GRCm39)	Y362H	probably damaging	Het
Castor2	T	C	5: 134,165,054 (GRCm39)	F208L	possibly damaging	Het
Cdh26	T	C	2: 178,128,724 (GRCm39)	S759P	probably damaging	Het
Clcc1	A	G	3: 108,582,056 (GRCm39)	Q387R	probably benign	Het
Cobl	C	T	11: 12,315,167 (GRCm39)	G259R	probably benign	Het
Col4a1	C	T	8: 11,268,934 (GRCm39)	R968Q	possibly damaging	Het
Ddr2	A	G	1: 169,832,381 (GRCm39)		probably benign	Het
Dera	C	A	6: 137,773,846 (GRCm39)	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,471,725 (GRCm39)	E659A	probably damaging	Het
Dus2	G	T	8: 106,772,702 (GRCm39)		probably null	Het
Ears2	T	A	7: 121,647,352 (GRCm39)	I311F	possibly damaging	Het
Eml4	T	A	17: 83,761,893 (GRCm39)	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,213,616 (GRCm39)	M147L	probably benign	Het
Fam171a2	T	A	11: 102,330,548 (GRCm39)	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,648,921 (GRCm39)	H155Q	probably null	Het
Fem1b	G	T	9: 62,704,125 (GRCm39)	N378K	possibly damaging	Het
Fut11	C	A	14: 20,745,427 (GRCm39)	Y119*	probably null	Het
Gm6797	T	C	X: 8,511,388 (GRCm39)		noncoding transcript	Het
Gstt4	T	C	10: 75,653,148 (GRCm39)	D138G	probably benign	Het
Hprt1	G	A	X: 52,091,027 (GRCm39)	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,595,799 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,547,108 (GRCm39)	S621T	probably benign	Het
Ints6l	C	G	X: 55,550,172 (GRCm39)	A699G	probably benign	Het
Kctd3	A	G	1: 188,729,247 (GRCm39)		probably benign	Het
Kntc1	G	T	5: 123,928,979 (GRCm39)	V1252L	probably null	Het
Lama5	A	T	2: 179,822,511 (GRCm39)	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,551,113 (GRCm39)	L187F	probably damaging	Het
Lrp3	A	T	7: 34,901,545 (GRCm39)	L758M	possibly damaging	Het
Ltn1	T	A	16: 87,209,395 (GRCm39)	I740F	probably benign	Het
Mcm5	A	G	8: 75,853,876 (GRCm39)	K710R	probably benign	Het
Mllt10	A	G	2: 18,208,577 (GRCm39)		probably benign	Het
Nbr1	T	A	11: 101,467,197 (GRCm39)	M864K	probably benign	Het
Nkiras2	T	C	11: 100,515,758 (GRCm39)		probably null	Het
Nlrp4d	T	A	7: 10,116,449 (GRCm39)	E144V	probably benign	Het
Nppc	T	C	1: 86,597,356 (GRCm39)		probably benign	Het
Ormdl2	T	A	10: 128,655,868 (GRCm39)	Q94L	probably damaging	Het
Paox	G	C	7: 139,707,440 (GRCm39)	D88H	probably damaging	Het
Prl7a2	T	C	13: 27,846,671 (GRCm39)	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Prss54	T	C	8: 96,286,368 (GRCm39)	D235G	possibly damaging	Het
Rwdd3	T	C	3: 120,965,256 (GRCm39)	M24V	probably benign	Het
Sh3rf1	G	A	8: 61,825,594 (GRCm39)	A530T	probably benign	Het
Slc28a1	T	C	7: 80,774,648 (GRCm39)	I165T	probably benign	Het
Slco6d1	T	A	1: 98,355,994 (GRCm39)	L143*	probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,469,320 (GRCm39)	L7P	probably benign	Het
Spata31e2	T	A	1: 26,722,013 (GRCm39)	T1056S	possibly damaging	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
St8sia2	C	T	7: 73,610,588 (GRCm39)	G232S	probably benign	Het
Sun1	A	G	5: 139,216,918 (GRCm39)	H255R	possibly damaging	Het
Tent2	T	A	13: 93,291,547 (GRCm39)	Q365L	probably benign	Het
Ube2k	A	G	5: 65,738,795 (GRCm39)	I95V	probably damaging	Het
Ube2m	C	A	7: 12,769,679 (GRCm39)	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,169,147 (GRCm39)	M661K	probably benign	Het
Wdr47	A	T	3: 108,525,939 (GRCm39)	D154V	probably damaging	Het
Zfp113	A	G	5: 138,143,845 (GRCm39)	V135A	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
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
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'- GCTAGGATTCCAACAAGGACAGCAC -3'
(R):5'- CAAGCAGTCAGACTTCGTACTTCCC -3'

Sequencing Primer
(F):5'- TTGCTCCCATTAAGATGAGAGCC -3'
(R):5'- TTCCCTCCTGAAAGAAACTGG -3'

Posted On

2013-09-03