Mutagenetix > Incidental Mutation

Incidental Mutation 'R3103:Serpinb11'

262881

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

040577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107290044-107308205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107305338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 238 (N238S)

Ref Sequence

ENSEMBL: ENSMUSP00000027566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027566] [ENSMUST00000191425]

AlphaFold

Q9CQV3

Predicted Effect

probably benign
Transcript: ENSMUST00000027566
AA Change: N238S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027566
Gene: ENSMUSG00000026327
AA Change: N238S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191425

SMART Domains

Protein: ENSMUSP00000141180
Gene: ENSMUSG00000026327

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	152	9.1e-35	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,310,409 (GRCm39)		probably null	Het
Adap2	G	T	11: 80,047,859 (GRCm39)	C105F	probably damaging	Het
Bace2	T	C	16: 97,223,201 (GRCm39)		probably null	Het
Bpifc	A	G	10: 85,829,286 (GRCm39)	S94P	probably damaging	Het
C2cd3	A	G	7: 100,044,459 (GRCm39)	D347G	possibly damaging	Het
Cad	T	C	5: 31,219,018 (GRCm39)	V613A	possibly damaging	Het
Ccdc47	T	C	11: 106,093,667 (GRCm39)	H6R	probably benign	Het
Celsr3	A	G	9: 108,714,338 (GRCm39)	T1956A	probably benign	Het
Cep128	T	A	12: 90,986,118 (GRCm39)	D1006V	probably damaging	Het
Cog3	T	C	14: 75,984,641 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,405 (GRCm39)	V3153M	probably damaging	Het
Ctnna2	T	C	6: 77,630,127 (GRCm39)	E122G	possibly damaging	Het
Cts8	T	A	13: 61,398,772 (GRCm39)	I245F	probably damaging	Het
Ddx27	T	A	2: 166,868,166 (GRCm39)	V333E	probably damaging	Het
Dmpk	A	G	7: 18,821,579 (GRCm39)	Y279C	probably damaging	Het
Dpagt1	A	G	9: 44,239,292 (GRCm39)	I111V	probably benign	Het
Dvl2	C	A	11: 69,899,695 (GRCm39)	P546T	possibly damaging	Het
Fat4	G	T	3: 38,946,089 (GRCm39)	A1661S	probably benign	Het
Gcm1	A	G	9: 77,971,734 (GRCm39)	N225S	probably damaging	Het
Gcnt2	A	T	13: 41,072,082 (GRCm39)	M242L	probably benign	Het
Golgb1	A	G	16: 36,715,211 (GRCm39)	R226G	probably damaging	Het
Gpr63	G	A	4: 25,007,353 (GRCm39)	V26I	probably benign	Het
Grik2	A	G	10: 49,116,868 (GRCm39)	L631P	probably damaging	Het
Hapln3	T	C	7: 78,771,484 (GRCm39)	D135G	probably benign	Het
Il31ra	C	A	13: 112,666,885 (GRCm39)	V398F	probably damaging	Het
Ipp	G	T	4: 116,381,446 (GRCm39)	R315L	possibly damaging	Het
Kcmf1	A	G	6: 72,838,830 (GRCm39)	L32P	probably damaging	Het
Klf17	T	A	4: 117,617,805 (GRCm39)	Q184L	possibly damaging	Het
Lrp2	C	T	2: 69,262,328 (GRCm39)	V4442I	probably benign	Het
Lrrfip2	A	T	9: 111,051,278 (GRCm39)	E293D	probably damaging	Het
Oit3	A	G	10: 59,274,713 (GRCm39)	I29T	probably damaging	Het
Or1a1	G	A	11: 74,086,901 (GRCm39)	D191N	probably benign	Het
Or1j21	T	C	2: 36,683,574 (GRCm39)	C109R	possibly damaging	Het
Or51h1	T	C	7: 102,308,688 (GRCm39)	V220A	probably benign	Het
Plb1	T	A	5: 32,485,373 (GRCm39)	M842K	possibly damaging	Het
Ppt1	T	C	4: 122,730,100 (GRCm39)	C18R	probably benign	Het
Pstpip2	T	C	18: 77,959,477 (GRCm39)	Y191H	probably damaging	Het
Ryr1	C	T	7: 28,774,373 (GRCm39)	V2361I	probably damaging	Het
Skor2	A	T	18: 76,946,973 (GRCm39)	K232*	probably null	Het
Slc13a5	A	T	11: 72,148,214 (GRCm39)	W231R	probably damaging	Het
Svs5	A	T	2: 164,175,313 (GRCm39)	E55V	probably benign	Het
Tfcp2	A	T	15: 100,423,481 (GRCm39)	W142R	probably damaging	Het
Trpc2	A	T	7: 101,744,441 (GRCm39)	I738F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,067 (GRCm39)	S227T	possibly damaging	Het
Zfhx4	A	G	3: 5,464,386 (GRCm39)	T1540A	probably damaging	Het
Zfp616	A	G	11: 73,962,561 (GRCm39)	T74A	probably benign	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
R1550:Serpinb11	UTSW	1	107,307,418 (GRCm39)	missense	possibly damaging	0.94
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
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'- TAGGACTACAGAACCTGGGC -3'
(R):5'- TTACGAGTCAGCTAAGACAACAAAG -3'

Sequencing Primer
(F):5'- ACTACAGAACCTGGGCAAAAG -3'
(R):5'- GTCAGCTAAGACAACAAAGGCCAC -3'

Posted On

2015-02-05