Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Serpinb11'

169815

Institutional Source

Beutler Lab

Gene Symbol

Serpinb11

Ensembl Gene

ENSMUSG00000026327

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11

Synonyms

2310046M08Rik

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107290044-107308205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107307418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 283 (I283T)

Ref Sequence

ENSEMBL: ENSMUSP00000027566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027566]

AlphaFold

Q9CQV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027566
AA Change: I283T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027566
Gene: ENSMUSG00000026327
AA Change: I283T

Domain	Start	End	E-Value	Type
SERPIN	13	388	4.33e-143	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	Het

Other mutations in Serpinb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Serpinb11	APN	1	107,307,568 (GRCm39)	missense	probably benign	0.01
IGL01893:Serpinb11	APN	1	107,305,388 (GRCm39)	missense	probably benign	0.01
IGL01893:Serpinb11	APN	1	107,305,387 (GRCm39)	missense	probably benign
IGL03011:Serpinb11	APN	1	107,307,546 (GRCm39)	missense	probably damaging	1.00
IGL03126:Serpinb11	APN	1	107,307,654 (GRCm39)	missense	probably damaging	1.00
R0138:Serpinb11	UTSW	1	107,305,260 (GRCm39)	missense	probably damaging	1.00
R0153:Serpinb11	UTSW	1	107,299,933 (GRCm39)	missense	probably benign	0.07
R0419:Serpinb11	UTSW	1	107,304,590 (GRCm39)	nonsense	probably null
R1764:Serpinb11	UTSW	1	107,304,532 (GRCm39)	missense	probably benign	0.03
R1972:Serpinb11	UTSW	1	107,297,210 (GRCm39)	missense	probably damaging	1.00
R3103:Serpinb11	UTSW	1	107,305,338 (GRCm39)	missense	probably benign	0.07
R3768:Serpinb11	UTSW	1	107,305,392 (GRCm39)	critical splice donor site	probably null
R4332:Serpinb11	UTSW	1	107,297,294 (GRCm39)	critical splice donor site	probably null
R5001:Serpinb11	UTSW	1	107,304,598 (GRCm39)	missense	possibly damaging	0.92
R5010:Serpinb11	UTSW	1	107,307,379 (GRCm39)	missense	probably benign
R5043:Serpinb11	UTSW	1	107,297,195 (GRCm39)	missense	probably damaging	0.97
R5186:Serpinb11	UTSW	1	107,307,484 (GRCm39)	missense	probably damaging	1.00
R5833:Serpinb11	UTSW	1	107,305,392 (GRCm39)	critical splice donor site	probably null
R5907:Serpinb11	UTSW	1	107,299,919 (GRCm39)	missense	probably benign	0.12
R6244:Serpinb11	UTSW	1	107,299,972 (GRCm39)	missense	probably damaging	0.99
R6395:Serpinb11	UTSW	1	107,299,781 (GRCm39)	splice site	probably null
R7111:Serpinb11	UTSW	1	107,304,614 (GRCm39)	missense	probably benign	0.00
R7354:Serpinb11	UTSW	1	107,305,263 (GRCm39)	missense	probably benign	0.03
R7664:Serpinb11	UTSW	1	107,307,718 (GRCm39)	missense	probably damaging	1.00
R8075:Serpinb11	UTSW	1	107,298,519 (GRCm39)	missense	probably damaging	1.00
R8223:Serpinb11	UTSW	1	107,305,262 (GRCm39)	missense	probably benign	0.01
R9091:Serpinb11	UTSW	1	107,304,533 (GRCm39)	missense	probably benign	0.15
R9270:Serpinb11	UTSW	1	107,304,533 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- CTGAGCCACTCACACTGGGAATTAC -3'
(R):5'- GCTGTGAACTGAACTGTGACAGGG -3'

Sequencing Primer
(F):5'- CTGGGAATTACAGAAACATCTGTTC -3'
(R):5'- GGAGTCGCTTCACAGAAATAC -3'

Posted On

2014-04-13