Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4651001:Serpinb13'

556639

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

Accession Numbers

Essential gene?

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

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106908714-106928925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106910574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 66 (S66L)

Ref Sequence

ENSEMBL: ENSMUSP00000118572 (fasta)

Gene Model

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

AlphaFold

Q8CDC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027564
AA Change: S66L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: S66L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136766
AA Change: S66L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775
AA Change: S66L

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

Coding Region Coverage

1x: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,408,014 (GRCm39)	I428L	probably benign	Het
Aass	T	C	6: 23,118,750 (GRCm39)	I131V	probably benign	Het
Alcam	T	A	16: 52,115,550 (GRCm39)	K189N	probably benign	Het
Ankrd50	C	A	3: 38,509,959 (GRCm39)	E803*	probably null	Het
Ankrd53	A	G	6: 83,742,715 (GRCm39)	D236G	probably damaging	Het
Bard1	A	G	1: 71,114,087 (GRCm39)	V298A	probably benign	Het
Cacna1d	C	T	14: 29,900,602 (GRCm39)	G361D	probably damaging	Het
Camkk1	A	G	11: 72,916,647 (GRCm39)	S82G	probably benign	Het
Ccr4	A	T	9: 114,321,261 (GRCm39)	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,805 (GRCm39)	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,941,711 (GRCm39)	A254E	probably benign	Het
Cfap46	T	C	7: 139,225,467 (GRCm39)	T1078A		Het
Cyp46a1	A	G	12: 108,319,367 (GRCm39)	D288G	probably benign	Het
Dnah6	T	C	6: 73,037,243 (GRCm39)	N3333S	probably benign	Het
Dzip3	A	G	16: 48,765,241 (GRCm39)	V491A	probably benign	Het
Egr1	G	T	18: 34,996,240 (GRCm39)	E341*	probably null	Het
Enpp1	G	A	10: 24,529,848 (GRCm39)	P597S	probably benign	Het
Ercc3	A	T	18: 32,373,365 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,205,909 (GRCm39)		probably null	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fhip1a	C	T	3: 85,590,948 (GRCm39)	A389T	probably damaging	Het
Gbf1	A	G	19: 46,151,982 (GRCm39)	N5S	probably benign	Het
Gbp4	T	A	5: 105,266,289 (GRCm39)	H584L	probably benign	Het
Gcgr	G	T	11: 120,428,968 (GRCm39)	C402F	probably damaging	Het
Grm7	T	A	6: 110,623,050 (GRCm39)	N74K	probably benign	Het
H1f9	A	G	11: 94,859,142 (GRCm39)	S146G	probably benign	Het
Hoxa10	T	G	6: 52,211,877 (GRCm39)	N13T	possibly damaging	Het
Ice1	A	T	13: 70,772,040 (GRCm39)		probably null	Het
Il22	C	A	10: 118,041,495 (GRCm39)	N69K	probably damaging	Het
Il9r	A	T	11: 32,141,798 (GRCm39)	H319Q	probably benign	Het
Itgax	A	G	7: 127,748,282 (GRCm39)	T1104A	probably benign	Het
Jag1	C	T	2: 136,943,617 (GRCm39)	G193D	probably damaging	Het
Krt13	T	A	11: 100,010,862 (GRCm39)	D164V	probably damaging	Het
Lepr	T	C	4: 101,649,194 (GRCm39)	M865T	probably damaging	Het
Lmf2	G	A	15: 89,236,272 (GRCm39)	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,756,189 (GRCm39)	H655Y	probably benign	Het
Mapk6	A	T	9: 75,304,869 (GRCm39)	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,144,832 (GRCm39)	Y261N	probably damaging	Het
Mon1b	G	A	8: 114,365,254 (GRCm39)	G194D	probably benign	Het
Myo18b	C	T	5: 112,982,301 (GRCm39)	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,795,456 (GRCm39)	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,253,657 (GRCm39)	I15T	probably benign	Het
Nhsl1	T	G	10: 18,284,183 (GRCm39)	S41R	probably damaging	Het
Numa1	A	T	7: 101,663,141 (GRCm39)	K2089M	probably damaging	Het
Obi1	T	A	14: 104,743,692 (GRCm39)	D129V	probably damaging	Het
Obscn	A	G	11: 58,932,507 (GRCm39)	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,258,925 (GRCm39)	L391Q	probably benign	Het
Or10g9b	A	T	9: 39,917,526 (GRCm39)	C240S	probably damaging	Het
Or2ag1	A	G	7: 106,472,730 (GRCm39)	C241R	probably damaging	Het
Or5b106	T	A	19: 13,123,991 (GRCm39)	I11F	probably benign	Het
Or5b111	A	G	19: 13,291,556 (GRCm39)	I31T	probably benign	Het
Or5m9	T	C	2: 85,876,862 (GRCm39)	L12P	probably damaging	Het
Parn	T	A	16: 13,449,431 (GRCm39)	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,905,812 (GRCm39)	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,620,195 (GRCm39)	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715 (GRCm39)	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,951,048 (GRCm39)	A270V	probably benign	Het
Pnpt1	T	C	11: 29,106,945 (GRCm39)		probably null	Het
Prkn	T	A	17: 11,286,130 (GRCm39)	L41Q	probably damaging	Het
Rc3h1	C	A	1: 160,791,110 (GRCm39)	N931K	probably benign	Het
Rlf	A	G	4: 121,007,510 (GRCm39)	V600A	probably damaging	Het
Rpl27rt	A	T	18: 34,870,892 (GRCm39)	Q142L	unknown	Het
Sall1	T	G	8: 89,757,731 (GRCm39)	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,899,731 (GRCm39)	Y408N	probably benign	Het
Tmem181a	A	T	17: 6,351,170 (GRCm39)	M319L	probably benign	Het
Trim24	T	C	6: 37,877,667 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,719,278 (GRCm39)	T7234S	unknown	Het
Unc13c	T	A	9: 73,391,021 (GRCm39)	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,340,095 (GRCm39)	R667*	probably null	Het
Uvrag	A	G	7: 98,555,727 (GRCm39)	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,260,530 (GRCm39)	V190A	probably damaging	Het
Vmn2r50	T	A	7: 9,771,659 (GRCm39)	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,595,461 (GRCm39)	T408S	probably benign	Het
Vps33b	A	G	7: 79,939,755 (GRCm39)	D502G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GGCAACATAGACATTTCTCTGGC -3'
(R):5'- TCCAGGAGCTTTTGAGCAAG -3'

Sequencing Primer
(F):5'- AGACATTTCTCTGGCTTTTCAAGGAG -3'
(R):5'- AGCCTCTAGGACTTTGTTATAGCAGC -3'

Posted On

2019-06-07