Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02662:Serpinb9h'

302582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb9h

Ensembl Gene

ENSMUSG00000071452

Gene Name

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

Synonyms

Gm11397

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL02662

Quality Score

Status

Chromosome

Chromosomal Location

33579656-33589128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33588513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 366 (N366S)

Ref Sequence

ENSEMBL: ENSMUSP00000049819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050276]

AlphaFold

F6V5V4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050276
AA Change: N366S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049819
Gene: ENSMUSG00000071452
AA Change: N366S

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.3e-164	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,618,744 (GRCm39)		probably null	Het
Ap5z1	G	A	5: 142,462,644 (GRCm39)		probably null	Het
Cdhr5	T	G	7: 140,854,416 (GRCm39)	I120L	possibly damaging	Het
Chd5	C	T	4: 152,456,588 (GRCm39)	S975F	probably damaging	Het
Cts3	G	T	13: 61,715,871 (GRCm39)	Q132K	probably damaging	Het
Cylc2	T	A	4: 51,216,698 (GRCm39)		probably benign	Het
Defb39	A	G	8: 19,102,891 (GRCm39)	V68A	probably benign	Het
Dgki	A	G	6: 36,839,421 (GRCm39)		probably benign	Het
Dhtkd1	G	A	2: 5,904,783 (GRCm39)	P867L	probably damaging	Het
Gata5	C	T	2: 179,969,544 (GRCm39)		probably benign	Het
Glt28d2	T	A	3: 85,779,423 (GRCm39)	I17F	probably damaging	Het
Gstm2	T	C	3: 107,892,378 (GRCm39)	Y82C	possibly damaging	Het
Hs6st1	T	A	1: 36,142,893 (GRCm39)	L276*	probably null	Het
Iqgap1	T	C	7: 80,392,827 (GRCm39)	D712G	probably benign	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Ksr1	G	A	11: 78,927,551 (GRCm39)	T289I	probably damaging	Het
Lingo4	T	C	3: 94,309,124 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,153,694 (GRCm39)	S674P	probably damaging	Het
Nek1	G	A	8: 61,557,218 (GRCm39)	V841I	probably benign	Het
Or10a48	T	C	7: 108,424,952 (GRCm39)	T85A	probably benign	Het
Or8i2	T	C	2: 86,852,346 (GRCm39)	T181A	probably benign	Het
Pigx	A	G	16: 31,906,201 (GRCm39)	V40A	probably damaging	Het
Pla2g2d	T	G	4: 138,506,006 (GRCm39)	M5R	possibly damaging	Het
Ppa2	G	T	3: 133,073,644 (GRCm39)	R234I	probably damaging	Het
Rbms1	A	C	2: 60,592,650 (GRCm39)	L221R	probably damaging	Het
Rnasel	C	A	1: 153,629,857 (GRCm39)	N124K	probably damaging	Het
Sigirr	T	A	7: 140,674,707 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,671 (GRCm39)	V152E	probably damaging	Het
Tlnrd1	C	T	7: 83,532,027 (GRCm39)	V135M	possibly damaging	Het
Tlnrd1	A	G	7: 83,531,744 (GRCm39)	L229S	probably damaging	Het
Top1mt	A	G	15: 75,540,554 (GRCm39)	V239A	probably damaging	Het
Tpd52	A	T	3: 9,009,775 (GRCm39)		probably null	Het
Trim16	T	A	11: 62,731,383 (GRCm39)	L331Q	possibly damaging	Het
Ttll4	A	G	1: 74,726,390 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,272 (GRCm39)	D244V	probably damaging	Het
Vmn2r72	A	C	7: 85,387,391 (GRCm39)	D724E	probably benign	Het
Zfp563	T	C	17: 33,321,253 (GRCm39)	W18R	probably damaging	Het
Zswim8	T	C	14: 20,763,142 (GRCm39)	V347A	probably benign	Het

Other mutations in Serpinb9h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Serpinb9h	APN	13	33,588,182 (GRCm39)	missense	probably damaging	0.99
R0017:Serpinb9h	UTSW	13	33,588,494 (GRCm39)	missense	probably damaging	0.99
R1343:Serpinb9h	UTSW	13	33,588,468 (GRCm39)	missense	possibly damaging	0.47
R1757:Serpinb9h	UTSW	13	33,583,336 (GRCm39)	missense	probably benign	0.00
R1886:Serpinb9h	UTSW	13	33,588,203 (GRCm39)	missense	possibly damaging	0.56
R5559:Serpinb9h	UTSW	13	33,588,301 (GRCm39)	missense	probably benign
R5681:Serpinb9h	UTSW	13	33,579,812 (GRCm39)	missense	probably damaging	0.98
R6189:Serpinb9h	UTSW	13	33,588,427 (GRCm39)	missense	probably benign
R7585:Serpinb9h	UTSW	13	33,588,299 (GRCm39)	missense	probably benign	0.43
R7746:Serpinb9h	UTSW	13	33,581,841 (GRCm39)	missense	probably damaging	0.98
R8786:Serpinb9h	UTSW	13	33,588,204 (GRCm39)	missense	probably benign	0.17
R8787:Serpinb9h	UTSW	13	33,588,204 (GRCm39)	missense	probably benign	0.17
R9032:Serpinb9h	UTSW	13	33,581,781 (GRCm39)	missense	probably damaging	0.98
R9085:Serpinb9h	UTSW	13	33,581,781 (GRCm39)	missense	probably damaging	0.98
Z1177:Serpinb9h	UTSW	13	33,588,493 (GRCm39)	missense	possibly damaging	0.47

Posted On

2015-04-16