Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Serpinb8'

366683

Institutional Source

Beutler Lab

Gene Symbol

Serpinb8

Ensembl Gene

ENSMUSG00000026315

Gene Name

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

Synonyms

ovalbumin, CAP-2, Spi8, CAP2, NK10

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107517668-107536708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107532472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 188 (N188S)

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: N188S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: N188S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112706
AA Change: N188S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: N188S

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

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Git1	T	G	11: 77,390,663 (GRCm39)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,615,755 (GRCm39)	D361V	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	possibly damaging	Het

Other mutations in Serpinb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Serpinb8	APN	1	107,534,714 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCGTCTCCCAAATCAGTATAG -3'
(R):5'- AGCTCAAGCAGGGTTTTACTC -3'

Sequencing Primer
(F):5'- GTCTCCCAAATCAGTATAGGCTTC -3'
(R):5'- GCAGGGTTTTACTCAACAGAGATCC -3'

Posted On

2015-12-29