Mutagenetix > Incidental Mutations

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

HURPIN, headpin, HUR7, PI13

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106980984-107001195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106982844 bp

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]

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: 77,259,895	I428L	probably benign	Het
Aass	T	C	6: 23,118,751	I131V	probably benign	Het
Alcam	T	A	16: 52,295,187	K189N	probably benign	Het
Ankrd50	C	A	3: 38,455,810	E803*	probably null	Het
Ankrd53	A	G	6: 83,765,733	D236G	probably damaging	Het
Bard1	A	G	1: 71,074,928	V298A	probably benign	Het
Cacna1d	C	T	14: 30,178,645	G361D	probably damaging	Het
Camkk1	A	G	11: 73,025,821	S82G	probably benign	Het
Ccr4	A	T	9: 114,492,193	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,719	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,215,083	A254E	probably benign	Het
Cfap46	T	C	7: 139,645,551	T1078A		Het
Cyp46a1	A	G	12: 108,353,108	D288G	probably benign	Het
Dnah6	T	C	6: 73,060,260	N3333S	probably benign	Het
Dzip3	A	G	16: 48,944,878	V491A	probably benign	Het
Egr1	G	T	18: 34,863,187	E341*	probably null	Het
Enpp1	G	A	10: 24,653,950	P597S	probably benign	Het
Ercc3	A	T	18: 32,240,312		probably benign	Het
Fam160a1	C	T	3: 85,683,641	A389T	probably damaging	Het
Fbn1	T	C	2: 125,363,989		probably null	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Gbf1	A	G	19: 46,163,543	N5S	probably benign	Het
Gbp4	T	A	5: 105,118,423	H584L	probably benign	Het
Gcgr	G	T	11: 120,538,142	C402F	probably damaging	Het
Gm3550	A	T	18: 34,737,839	Q142L	unknown	Het
Grm7	T	A	6: 110,646,089	N74K	probably benign	Het
Hils1	A	G	11: 94,968,316	S146G	probably benign	Het
Hoxa10	T	G	6: 52,234,897	N13T	possibly damaging	Het
Ice1	A	T	13: 70,623,921		probably null	Het
Il22	C	A	10: 118,205,590	N69K	probably damaging	Het
Il9r	A	T	11: 32,191,798	H319Q	probably benign	Het
Itgax	A	G	7: 128,149,110	T1104A	probably benign	Het
Jag1	C	T	2: 137,101,697	G193D	probably damaging	Het
Krt13	T	A	11: 100,120,036	D164V	probably damaging	Het
Lepr	T	C	4: 101,791,997	M865T	probably damaging	Het
Lmf2	G	A	15: 89,352,069	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,608,323	H655Y	probably benign	Het
Mapk6	A	T	9: 75,397,587	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,246,951	Y261N	probably damaging	Het
Mon1b	G	A	8: 113,638,622	G194D	probably benign	Het
Myo18b	C	T	5: 112,834,435	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,342,812	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,016,200	I15T	probably benign	Het
Nhsl1	T	G	10: 18,408,435	S41R	probably damaging	Het
Numa1	A	T	7: 102,013,934	K2089M	probably damaging	Het
Obscn	A	G	11: 59,041,681	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,021,485	L391Q	probably benign	Het
Olfr1034	T	C	2: 86,046,518	L12P	probably damaging	Het
Olfr1459	T	A	19: 13,146,627	I11F	probably benign	Het
Olfr1465	A	G	19: 13,314,192	I31T	probably benign	Het
Olfr705	A	G	7: 106,873,523	C241R	probably damaging	Het
Olfr980	A	T	9: 40,006,230	C240S	probably damaging	Het
Park2	T	A	17: 11,067,243	L41Q	probably damaging	Het
Parn	T	A	16: 13,631,567	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,748,470	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,708,899	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,746,050	A270V	probably benign	Het
Pnpt1	T	C	11: 29,156,945		probably null	Het
Rc3h1	C	A	1: 160,963,540	N931K	probably benign	Het
Rlf	A	G	4: 121,150,313	V600A	probably damaging	Het
Rnf219	T	A	14: 104,506,256	D129V	probably damaging	Het
Sall1	T	G	8: 89,031,103	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,694,733	Y408N	probably benign	Het
Tmem181a	A	T	17: 6,300,895	M319L	probably benign	Het
Trim24	T	C	6: 37,900,732		probably null	Het
Ttn	T	A	2: 76,888,934	T7234S	unknown	Het
Unc13c	T	A	9: 73,483,739	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,363,113	R667*	probably null	Het
Uvrag	A	G	7: 98,906,520	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,076,360	V190A	probably damaging	Het
Vmn2r50	T	A	7: 10,037,732	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,946,253	T408S	probably benign	Het
Vps33b	A	G	7: 80,290,007	D502G	probably damaging	Het

Other mutations in Serpinb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Serpinb13	APN	1	106996380	missense	probably damaging	1.00
IGL01758:Serpinb13	APN	1	107000754	missense	probably damaging	1.00
IGL02078:Serpinb13	APN	1	106998958	missense	probably damaging	0.99
IGL02183:Serpinb13	APN	1	106998910	missense	probably damaging	1.00
R0683:Serpinb13	UTSW	1	106999021	missense	probably damaging	1.00
R1263:Serpinb13	UTSW	1	107000736	missense	probably damaging	0.97
R1535:Serpinb13	UTSW	1	106982156	start codon destroyed	probably null	1.00
R1929:Serpinb13	UTSW	1	106999026	missense	possibly damaging	0.85
R2271:Serpinb13	UTSW	1	106999026	missense	possibly damaging	0.85
R2655:Serpinb13	UTSW	1	107000427	missense	probably damaging	0.99
R3115:Serpinb13	UTSW	1	106982838	missense	probably null	0.15
R3418:Serpinb13	UTSW	1	106998927	missense	probably damaging	0.99
R3419:Serpinb13	UTSW	1	106998927	missense	probably damaging	0.99
R3883:Serpinb13	UTSW	1	106998572	missense	probably benign	0.37
R4664:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4666:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4689:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4690:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4725:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4728:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R4847:Serpinb13	UTSW	1	106982844	missense	probably damaging	1.00
R5249:Serpinb13	UTSW	1	106998697	missense	probably damaging	1.00
R5501:Serpinb13	UTSW	1	106982185	missense	possibly damaging	0.81
R5507:Serpinb13	UTSW	1	106998602	missense	probably benign	0.00
R6015:Serpinb13	UTSW	1	107000607	missense	probably benign	0.00
R6363:Serpinb13	UTSW	1	107000774	nonsense	probably null
R6720:Serpinb13	UTSW	1	106994062	missense	probably benign	0.12
R6847:Serpinb13	UTSW	1	106998933	missense	probably benign	0.24
R7237:Serpinb13	UTSW	1	106998949	missense	probably damaging	1.00
Z1177:Serpinb13	UTSW	1	106982303	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