Mutagenetix > Incidental Mutations

Incidental Mutation 'R3758:Serpinb9b'

271533

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9b

Ensembl Gene

ENSMUSG00000021403

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9b

Synonyms

1600019A21Rik, Spi10, ovalbumin, SPI-CI, R86

MMRRC Submission

040739-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3758 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33027416-33041884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33035588 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 166 (Y166C)

Ref Sequence

ENSEMBL: ENSMUSP00000006392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006392]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006392
AA Change: Y166C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: Y166C

Domain	Start	End	E-Value	Type
SERPIN	13	377	7.86e-164	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221946

Meta Mutation Damage Score

0.9745

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

93% (28/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 12,927,467		probably benign	Het
Bcat1	T	A	6: 145,032,872	I208F	probably damaging	Het
Cage1	A	C	13: 38,025,729	F91V	possibly damaging	Het
Cd200r3	T	G	16: 44,964,628		probably null	Het
Coq8b	C	T	7: 27,242,227	Q246*	probably null	Het
Dmxl1	G	A	18: 49,935,317	G2719D	probably damaging	Het
Fbln2	T	C	6: 91,256,381	S616P	probably damaging	Het
Fkbp10	G	A	11: 100,422,625		probably null	Het
Gabra1	G	T	11: 42,175,936	D50E	probably benign	Het
Hist1h1e	T	A	13: 23,622,257	K81*	probably null	Het
Hmgcs2	A	G	3: 98,291,090	N103S	probably damaging	Het
Htt	A	G	5: 34,895,970	H2549R	probably damaging	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrrc7	T	C	3: 158,163,965	N706D	probably damaging	Het
Mill1	G	A	7: 18,262,703		probably null	Het
Nipa2	T	C	7: 55,935,941	Y102C	probably damaging	Het
Nmd3	T	A	3: 69,724,308	C32*	probably null	Het
Olfr1251	A	G	2: 89,667,572	F105L	probably benign	Het
Olfr582	A	G	7: 103,041,970	S159G	probably benign	Het
Olfr745	A	G	14: 50,643,036	K252E	possibly damaging	Het
Olfr777	T	C	10: 129,269,065	D86G	probably damaging	Het
Pcdhb7	A	G	18: 37,343,026	D405G	possibly damaging	Het
Ptprt	A	T	2: 161,812,030	L560Q	probably damaging	Het
Soga1	T	C	2: 157,020,638	N1457S	possibly damaging	Het
Sprr1a	T	G	3: 92,484,397	K99T	probably damaging	Het
Spsb4	A	G	9: 96,995,871	V133A	probably damaging	Het
Suz12	A	G	11: 80,024,942	T391A	probably benign	Het
Tor1aip2	A	G	1: 156,065,289	E447G	probably damaging	Het
Ube4a	G	A	9: 44,949,900		probably benign	Het
Wdfy4	A	C	14: 33,023,374	H2296Q	probably benign	Het

Other mutations in Serpinb9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Serpinb9b	APN	13	33035625	missense	probably benign	0.00
IGL00518:Serpinb9b	APN	13	33039570	missense	probably benign	0.17
IGL01939:Serpinb9b	APN	13	33039665	missense	probably damaging	0.99
IGL02472:Serpinb9b	APN	13	33039970	utr 3 prime	probably benign
IGL02632:Serpinb9b	APN	13	33039823	missense	probably benign	0.01
R0255:Serpinb9b	UTSW	13	33038020	missense	probably benign
R0667:Serpinb9b	UTSW	13	33032926	nonsense	probably null
R0699:Serpinb9b	UTSW	13	33033566	missense	probably benign	0.00
R0703:Serpinb9b	UTSW	13	33032981	missense	probably benign	0.29
R1605:Serpinb9b	UTSW	13	33038129	critical splice donor site	probably null
R1623:Serpinb9b	UTSW	13	33029565	missense	possibly damaging	0.61
R1815:Serpinb9b	UTSW	13	33039904	missense	probably damaging	1.00
R1920:Serpinb9b	UTSW	13	33039548	critical splice acceptor site	probably null
R1987:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R1988:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R3035:Serpinb9b	UTSW	13	33029546	missense	possibly damaging	0.81
R3683:Serpinb9b	UTSW	13	33029598	missense	probably damaging	0.98
R4677:Serpinb9b	UTSW	13	33039823	missense	probably damaging	0.97
R5412:Serpinb9b	UTSW	13	33029513	missense	probably benign	0.00
R5481:Serpinb9b	UTSW	13	33038093	missense	possibly damaging	0.93
R5672:Serpinb9b	UTSW	13	33039599	missense	probably benign	0.01
R5957:Serpinb9b	UTSW	13	33039848	missense	possibly damaging	0.81
R6797:Serpinb9b	UTSW	13	33029484	missense	possibly damaging	0.60
R7586:Serpinb9b	UTSW	13	33039760	missense	probably damaging	1.00
R8115:Serpinb9b	UTSW	13	33035548	missense	probably null	0.94
R8309:Serpinb9b	UTSW	13	33039571	missense	probably damaging	1.00
R8529:Serpinb9b	UTSW	13	33039560	missense	probably benign	0.04
X0019:Serpinb9b	UTSW	13	33035531	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGTCAAAGCTCTTTCATGG -3'
(R):5'- CCACACAGGCTTTGCAATCTC -3'

Sequencing Primer
(F):5'- CAAAGCTCTTTCATGGTGTTTGG -3'
(R):5'- AGGCTTTGCAATCTCTATCACTGAAC -3'

Posted On

2015-03-18