Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00558:Serpinb13'

7394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb13

Ensembl Gene

ENSMUSG00000048775

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13

Synonyms

HUR7, HURPIN, PI13, headpin

Accession Numbers

Essential gene?

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

Stock #

IGL00558

Quality Score

Status

Chromosome

Chromosomal Location

106908714-106928925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106924110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000027564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027564] [ENSMUST00000136766]

AlphaFold

Q8CDC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027564
AA Change: V151A

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

SMART Domains

Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: V151A

Domain	Start	End	E-Value	Type
SERPIN	13	389	1.55e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136766

SMART Domains

Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	94	1.1e-16	PFAM

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 serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,981,671 (GRCm39)	D985G	possibly damaging	Het
Ces1c	G	A	8: 93,825,899 (GRCm39)	T520I	probably benign	Het
Cul3	T	C	1: 80,266,457 (GRCm39)		probably benign	Het
Defa25	T	A	8: 21,575,281 (GRCm39)	Y87N	possibly damaging	Het
Fbn1	C	A	2: 125,171,048 (GRCm39)		probably benign	Het
Gabrp	T	A	11: 33,502,644 (GRCm39)	T407S	possibly damaging	Het
Gtf2ird1	A	T	5: 134,387,745 (GRCm39)	W1083R	probably benign	Het
Rlf	A	T	4: 121,008,170 (GRCm39)	L270H	probably damaging	Het
Trps1	T	A	15: 50,524,481 (GRCm39)	T961S	probably damaging	Het
Vps13c	A	G	9: 67,845,139 (GRCm39)	I2074M	possibly damaging	Het

Other mutations in Serpinb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:Serpinb13	APN	1	106,928,484 (GRCm39)	missense	probably damaging	1.00
IGL02078:Serpinb13	APN	1	106,926,688 (GRCm39)	missense	probably damaging	0.99
IGL02183:Serpinb13	APN	1	106,926,640 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R0683:Serpinb13	UTSW	1	106,926,751 (GRCm39)	missense	probably damaging	1.00
R1263:Serpinb13	UTSW	1	106,928,466 (GRCm39)	missense	probably damaging	0.97
R1535:Serpinb13	UTSW	1	106,909,886 (GRCm39)	start codon destroyed	probably null	1.00
R1929:Serpinb13	UTSW	1	106,926,756 (GRCm39)	missense	possibly damaging	0.85
R2271:Serpinb13	UTSW	1	106,926,756 (GRCm39)	missense	possibly damaging	0.85
R2655:Serpinb13	UTSW	1	106,928,157 (GRCm39)	missense	probably damaging	0.99
R3115:Serpinb13	UTSW	1	106,910,568 (GRCm39)	missense	probably null	0.15
R3418:Serpinb13	UTSW	1	106,926,657 (GRCm39)	missense	probably damaging	0.99
R3419:Serpinb13	UTSW	1	106,926,657 (GRCm39)	missense	probably damaging	0.99
R3883:Serpinb13	UTSW	1	106,926,302 (GRCm39)	missense	probably benign	0.37
R4664:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4666:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4689:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4690:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4725:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4728:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R4847:Serpinb13	UTSW	1	106,910,574 (GRCm39)	missense	probably damaging	1.00
R5249:Serpinb13	UTSW	1	106,926,427 (GRCm39)	missense	probably damaging	1.00
R5501:Serpinb13	UTSW	1	106,909,915 (GRCm39)	missense	possibly damaging	0.81
R5507:Serpinb13	UTSW	1	106,926,332 (GRCm39)	missense	probably benign	0.00
R6015:Serpinb13	UTSW	1	106,928,337 (GRCm39)	missense	probably benign	0.00
R6363:Serpinb13	UTSW	1	106,928,504 (GRCm39)	nonsense	probably null
R6720:Serpinb13	UTSW	1	106,921,792 (GRCm39)	missense	probably benign	0.12
R6847:Serpinb13	UTSW	1	106,926,663 (GRCm39)	missense	probably benign	0.24
R7237:Serpinb13	UTSW	1	106,926,679 (GRCm39)	missense	probably damaging	1.00
R8907:Serpinb13	UTSW	1	106,928,519 (GRCm39)	missense	probably damaging	1.00
R8966:Serpinb13	UTSW	1	106,928,165 (GRCm39)	missense	probably damaging	1.00
R9011:Serpinb13	UTSW	1	106,923,519 (GRCm39)	missense	probably benign	0.01
R9350:Serpinb13	UTSW	1	106,923,562 (GRCm39)	nonsense	probably null
R9375:Serpinb13	UTSW	1	106,909,997 (GRCm39)	missense	probably damaging	1.00
R9774:Serpinb13	UTSW	1	106,923,579 (GRCm39)	missense	probably benign	0.02
Z1177:Serpinb13	UTSW	1	106,910,033 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-04-20