Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00391:Serpinb8'

7390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb8

Ensembl Gene

ENSMUSG00000026315

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 8

Synonyms

ovalbumin, CAP-2, Spi8, CAP2, NK10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

107517668-107536708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107534714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 262 (S262G)

Ref Sequence

ENSEMBL: ENSMUSP00000108326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000514] [ENSMUST00000112706] [ENSMUST00000123086]

AlphaFold

O08800

Predicted Effect

probably benign
Transcript: ENSMUST00000000514
AA Change: S262G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: S262G

Domain	Start	End	E-Value	Type
SERPIN	13	374	1.69e-177	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112706
AA Change: S262G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: S262G

Domain	Start	End	E-Value	Type
SERPIN	13	374	1.69e-177	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151283

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,666 (GRCm39)	F519L	probably damaging	Het
Adgrl3	G	A	5: 81,872,071 (GRCm39)	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,728,858 (GRCm39)	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,314,894 (GRCm39)		probably benign	Het
Ccr5	T	A	9: 123,924,443 (GRCm39)	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,621,322 (GRCm39)	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,893,236 (GRCm39)	M85T	probably damaging	Het
Col6a3	T	A	1: 90,755,977 (GRCm39)	H104L	probably damaging	Het
Coq9	A	T	8: 95,577,145 (GRCm39)	K170M	probably damaging	Het
Elmod1	A	G	9: 53,831,682 (GRCm39)		probably null	Het
Fam47e	A	C	5: 92,727,522 (GRCm39)	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725 (GRCm39)	K146E	probably damaging	Het
Myo7b	A	C	18: 32,154,609 (GRCm39)		probably benign	Het
Nmur1	G	A	1: 86,314,193 (GRCm39)	R381C	probably damaging	Het
Nsd2	T	G	5: 34,013,077 (GRCm39)	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,420,783 (GRCm39)	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439 (GRCm39)	Y85C	probably damaging	Het
Otof	A	G	5: 30,532,967 (GRCm39)	C1587R	probably damaging	Het
Plaat5	A	T	19: 7,596,631 (GRCm39)		probably benign	Het
Plekha2	A	G	8: 25,547,343 (GRCm39)	V247A	probably damaging	Het
Plppr5	A	T	3: 117,465,592 (GRCm39)	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,193,922 (GRCm39)		probably null	Het
Ppp1r12a	A	G	10: 108,034,709 (GRCm39)	N85D	probably damaging	Het
Sspo	G	A	6: 48,474,320 (GRCm39)	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,648,258 (GRCm39)	E4621G	probably damaging	Het

Other mutations in Serpinb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Serpinb8	APN	1	107,532,448 (GRCm39)	missense	probably damaging	1.00
IGL03210:Serpinb8	APN	1	107,530,641 (GRCm39)	missense	probably damaging	1.00
Hachi	UTSW	1	107,525,201 (GRCm39)	start codon destroyed	probably null	1.00
BB002:Serpinb8	UTSW	1	107,526,715 (GRCm39)	missense	probably benign	0.25
BB012:Serpinb8	UTSW	1	107,526,715 (GRCm39)	missense	probably benign	0.25
IGL02835:Serpinb8	UTSW	1	107,530,586 (GRCm39)	missense	probably damaging	1.00
R0284:Serpinb8	UTSW	1	107,530,648 (GRCm39)	critical splice donor site	probably null
R1087:Serpinb8	UTSW	1	107,534,727 (GRCm39)	missense	probably damaging	0.99
R1728:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1728:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1728:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1729:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1729:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1729:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1730:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1730:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1730:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1739:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1739:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1739:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1762:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1762:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1762:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1783:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R1783:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1783:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1785:Serpinb8	UTSW	1	107,525,257 (GRCm39)	missense	probably benign
R1785:Serpinb8	UTSW	1	107,526,684 (GRCm39)	missense	probably benign
R1785:Serpinb8	UTSW	1	107,534,734 (GRCm39)	missense	probably benign	0.02
R2120:Serpinb8	UTSW	1	107,533,617 (GRCm39)	missense	probably damaging	1.00
R2146:Serpinb8	UTSW	1	107,533,657 (GRCm39)	missense	probably benign	0.11
R2148:Serpinb8	UTSW	1	107,533,657 (GRCm39)	missense	probably benign	0.11
R2391:Serpinb8	UTSW	1	107,534,799 (GRCm39)	missense	probably damaging	1.00
R2897:Serpinb8	UTSW	1	107,534,776 (GRCm39)	missense	unknown
R2898:Serpinb8	UTSW	1	107,534,776 (GRCm39)	missense	unknown
R3114:Serpinb8	UTSW	1	107,535,023 (GRCm39)	missense	probably benign	0.09
R3697:Serpinb8	UTSW	1	107,534,876 (GRCm39)	nonsense	probably null
R4783:Serpinb8	UTSW	1	107,532,472 (GRCm39)	missense	probably benign	0.05
R5225:Serpinb8	UTSW	1	107,525,201 (GRCm39)	start codon destroyed	probably null	1.00
R5412:Serpinb8	UTSW	1	107,533,616 (GRCm39)	missense	probably benign	0.39
R5525:Serpinb8	UTSW	1	107,535,023 (GRCm39)	missense	probably damaging	0.99
R5554:Serpinb8	UTSW	1	107,526,705 (GRCm39)	missense	probably benign	0.01
R5891:Serpinb8	UTSW	1	107,533,575 (GRCm39)	missense	probably damaging	0.98
R6594:Serpinb8	UTSW	1	107,525,201 (GRCm39)	start codon destroyed	probably null	1.00
R6681:Serpinb8	UTSW	1	107,525,321 (GRCm39)	missense	probably damaging	1.00
R7127:Serpinb8	UTSW	1	107,525,200 (GRCm39)	start codon destroyed	probably null	1.00
R7151:Serpinb8	UTSW	1	107,533,527 (GRCm39)	missense	probably damaging	1.00
R7300:Serpinb8	UTSW	1	107,535,053 (GRCm39)	makesense	probably null
R7716:Serpinb8	UTSW	1	107,532,438 (GRCm39)	nonsense	probably null
R7807:Serpinb8	UTSW	1	107,532,457 (GRCm39)	missense	probably damaging	1.00
R7822:Serpinb8	UTSW	1	107,534,723 (GRCm39)	nonsense	probably null
R7925:Serpinb8	UTSW	1	107,526,715 (GRCm39)	missense	probably benign	0.25
R8210:Serpinb8	UTSW	1	107,526,736 (GRCm39)	missense	probably damaging	1.00
R9046:Serpinb8	UTSW	1	107,530,563 (GRCm39)	missense	possibly damaging	0.89
R9303:Serpinb8	UTSW	1	107,526,769 (GRCm39)	critical splice donor site	probably null
R9305:Serpinb8	UTSW	1	107,526,769 (GRCm39)	critical splice donor site	probably null
R9459:Serpinb8	UTSW	1	107,533,520 (GRCm39)	nonsense	probably null
X0018:Serpinb8	UTSW	1	107,525,327 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20