Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Serpinb13'

266878

Institutional Source

Beutler Lab

Gene Symbol

Serpinb13

Ensembl Gene

ENSMUSG00000048775

Gene Name

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

Synonyms

HUR7, HURPIN, PI13, headpin

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

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

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106908714-106928925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106926657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 218 (S218P)

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: S218P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: S218P

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

Meta Mutation Damage Score

0.2210

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in Serpinb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Serpinb13	APN	1	106,924,110 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTCTAATGTCATTTGGCCAAG -3'
(R):5'- AGCGAGGCATCAAATGTTCAG -3'

Sequencing Primer
(F):5'- GGCCAAGTGATTATTCAGTTACTCAG -3'
(R):5'- CAAATGTTCAGAAGCCTTGTTCCCAG -3'

Posted On

2015-02-18