Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Serpinb7'

401342

Institutional Source

Beutler Lab

Gene Symbol

Serpinb7

Ensembl Gene

ENSMUSG00000067001

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 7

Synonyms

megsin, 4631416M05Rik, ovalbumin

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107399655-107452689 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107434749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 61 (N61I)

Ref Sequence

ENSEMBL: ENSMUSP00000119217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086690] [ENSMUST00000154538]

AlphaFold

Q9D695

Predicted Effect

probably benign
Transcript: ENSMUST00000086690
AA Change: N61I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: N61I

Domain	Start	End	E-Value	Type
SERPIN	13	380	2.7e-121	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154538
AA Change: N61I

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119217
Gene: ENSMUSG00000067001
AA Change: N61I

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	97	4.9e-20	PFAM

Meta Mutation Damage Score

0.3499

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	probably damaging	Het

Other mutations in Serpinb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Serpinb7	APN	1	107428246	utr 5 prime	probably benign
IGL01325:Serpinb7	APN	1	107435380	missense	probably damaging	0.98
IGL01595:Serpinb7	APN	1	107428322	missense	probably damaging	0.97
IGL01925:Serpinb7	APN	1	107451669	missense	probably benign	0.01
IGL02008:Serpinb7	APN	1	107448129	missense	possibly damaging	0.51
IGL02206:Serpinb7	APN	1	107435372	missense	possibly damaging	0.88
IGL02870:Serpinb7	APN	1	107450287	missense	probably damaging	1.00
IGL03010:Serpinb7	APN	1	107452011	utr 3 prime	probably benign
R0455:Serpinb7	UTSW	1	107451610	missense	possibly damaging	0.91
R0492:Serpinb7	UTSW	1	107452007	makesense	probably null
R0664:Serpinb7	UTSW	1	107428307	missense	probably damaging	0.98
R1495:Serpinb7	UTSW	1	107451660	nonsense	probably null
R1540:Serpinb7	UTSW	1	107428268	missense	possibly damaging	0.72
R1789:Serpinb7	UTSW	1	107450273	missense	possibly damaging	0.58
R1850:Serpinb7	UTSW	1	107428295	missense	probably damaging	1.00
R2962:Serpinb7	UTSW	1	107451726	missense	probably benign	0.00
R3151:Serpinb7	UTSW	1	107435351	nonsense	probably null
R3439:Serpinb7	UTSW	1	107428351	missense	probably damaging	1.00
R4064:Serpinb7	UTSW	1	107446036	missense	probably benign	0.09
R4590:Serpinb7	UTSW	1	107451833	missense	probably damaging	1.00
R5637:Serpinb7	UTSW	1	107428307	missense	probably damaging	1.00
R5914:Serpinb7	UTSW	1	107451850	missense	probably damaging	1.00
R5992:Serpinb7	UTSW	1	107445996	missense	probably damaging	1.00
R6013:Serpinb7	UTSW	1	107450189	missense	probably benign
R6317:Serpinb7	UTSW	1	107451706	missense	probably damaging	1.00
R6494:Serpinb7	UTSW	1	107435346	nonsense	probably null
R7181:Serpinb7	UTSW	1	107450322	missense	probably benign	0.01
R8011:Serpinb7	UTSW	1	107434757	missense	possibly damaging	0.87
R8226:Serpinb7	UTSW	1	107448250	splice site	probably null
R9097:Serpinb7	UTSW	1	107450177	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTTAAGACATTGACATTCATTTGGA -3'
(R):5'- AGAGAAAGGCTGATTGATCATCAA -3'

Sequencing Primer
(F):5'- TTGGAATTGTGAGAAAAGTAAGCTC -3'
(R):5'- CTGTAAGGAATCTGTTTCCA -3'

Posted On

2016-07-06