Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:Serpinb7'

39939

Institutional Source

Beutler Lab

Gene Symbol

Serpinb7

Ensembl Gene

ENSMUSG00000067001

Gene Name

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

Synonyms

4631416M05Rik, megsin, ovalbumin

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107350418-107380419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107379340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 249 (I249T)

Ref Sequence

ENSEMBL: ENSMUSP00000083896 (fasta)

Gene Model

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

AlphaFold

Q9D695

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086690
AA Change: I249T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: I249T

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

Meta Mutation Damage Score

0.3743

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,088,180 (GRCm39)	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,261,675 (GRCm39)	R399W	probably damaging	Het
Arb2a	T	A	13: 77,982,832 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,662,492 (GRCm39)	V256A	probably benign	Het
Atp2b4	A	T	1: 133,656,454 (GRCm39)	I732N	probably damaging	Het
C1qtnf9	A	C	14: 61,009,820 (GRCm39)	Q25H	probably damaging	Het
Ccdc6	T	A	10: 69,978,401 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,756,603 (GRCm39)	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,421,262 (GRCm39)		probably benign	Het
Cts3	G	A	13: 61,716,024 (GRCm39)		probably benign	Het
Cyfip1	T	A	7: 55,541,802 (GRCm39)	D362E	probably benign	Het
Dsg1b	T	A	18: 20,529,082 (GRCm39)	S273T	probably benign	Het
Dysf	A	T	6: 84,117,649 (GRCm39)	H1274L	probably benign	Het
Eva1c	T	C	16: 90,672,986 (GRCm39)	S187P	probably benign	Het
Fam13b	G	A	18: 34,578,581 (GRCm39)		probably benign	Het
Fbn2	C	T	18: 58,168,408 (GRCm39)	G2310S	probably damaging	Het
Fcna	T	C	2: 25,515,520 (GRCm39)	Y183C	probably damaging	Het
Fnta	T	C	8: 26,491,056 (GRCm39)	T263A	probably benign	Het
Gm94	T	C	18: 43,914,309 (GRCm39)	D83G	possibly damaging	Het
Gnal	C	T	18: 67,268,720 (GRCm39)		probably benign	Het
Grb7	T	G	11: 98,343,014 (GRCm39)	S244A	probably benign	Het
Grm3	T	C	5: 9,562,477 (GRCm39)	T458A	probably benign	Het
Hdac2	C	T	10: 36,867,832 (GRCm39)	R193C	probably damaging	Het
Hycc2	T	C	1: 58,573,638 (GRCm39)		probably benign	Het
Ighmbp2	T	C	19: 3,315,072 (GRCm39)	R783G	probably benign	Het
Inpp5j	G	T	11: 3,453,122 (GRCm39)	L43I	possibly damaging	Het
Itga11	A	T	9: 62,604,243 (GRCm39)	T44S	probably damaging	Het
Itsn1	C	T	16: 91,665,036 (GRCm39)		probably benign	Het
Kdm6b	G	T	11: 69,297,822 (GRCm39)	C233*	probably null	Het
Lamb3	T	C	1: 193,025,700 (GRCm39)	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,807,250 (GRCm39)	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,916,425 (GRCm39)	V814E	probably benign	Het
Megf10	C	T	18: 57,386,054 (GRCm39)	P356S	probably benign	Het
Myorg	G	A	4: 41,499,538 (GRCm39)	R31*	probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nus1	T	A	10: 52,306,190 (GRCm39)	V42E	probably damaging	Het
Or11g24	A	G	14: 50,662,359 (GRCm39)	I128V	possibly damaging	Het
Or2a51	A	C	6: 43,179,006 (GRCm39)	M143L	probably benign	Het
Padi3	T	C	4: 140,523,024 (GRCm39)	N306S	probably damaging	Het
Pex13	T	C	11: 23,605,949 (GRCm39)	S94G	probably benign	Het
Ppm1h	G	T	10: 122,638,229 (GRCm39)	Q166H	probably benign	Het
Ptafr	A	T	4: 132,307,396 (GRCm39)	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,377,132 (GRCm39)	D321E	probably damaging	Het
Samsn1	C	T	16: 75,742,113 (GRCm39)		noncoding transcript	Het
Scarb1	T	C	5: 125,366,745 (GRCm39)	N63D	probably damaging	Het
Srpra	A	G	9: 35,126,277 (GRCm39)	K490R	probably benign	Het
Sycn	A	G	7: 28,240,398 (GRCm39)	N22D	probably benign	Het
Tarbp1	C	T	8: 127,167,612 (GRCm39)	A1067T	probably benign	Het
Tex14	A	G	11: 87,405,131 (GRCm39)	D681G	possibly damaging	Het
Usp34	C	T	11: 23,396,741 (GRCm39)		probably benign	Het
Vmn2r107	T	C	17: 20,595,085 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,187,528 (GRCm39)	M653K	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het

Other mutations in Serpinb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Serpinb7	APN	1	107,355,976 (GRCm39)	utr 5 prime	probably benign
IGL01325:Serpinb7	APN	1	107,363,110 (GRCm39)	missense	probably damaging	0.98
IGL01595:Serpinb7	APN	1	107,356,052 (GRCm39)	missense	probably damaging	0.97
IGL01925:Serpinb7	APN	1	107,379,399 (GRCm39)	missense	probably benign	0.01
IGL02008:Serpinb7	APN	1	107,375,859 (GRCm39)	missense	possibly damaging	0.51
IGL02206:Serpinb7	APN	1	107,363,102 (GRCm39)	missense	possibly damaging	0.88
IGL02870:Serpinb7	APN	1	107,378,017 (GRCm39)	missense	probably damaging	1.00
IGL03010:Serpinb7	APN	1	107,379,741 (GRCm39)	utr 3 prime	probably benign
R0492:Serpinb7	UTSW	1	107,379,737 (GRCm39)	makesense	probably null
R0664:Serpinb7	UTSW	1	107,356,037 (GRCm39)	missense	probably damaging	0.98
R1495:Serpinb7	UTSW	1	107,379,390 (GRCm39)	nonsense	probably null
R1540:Serpinb7	UTSW	1	107,355,998 (GRCm39)	missense	possibly damaging	0.72
R1789:Serpinb7	UTSW	1	107,378,003 (GRCm39)	missense	possibly damaging	0.58
R1850:Serpinb7	UTSW	1	107,356,025 (GRCm39)	missense	probably damaging	1.00
R2962:Serpinb7	UTSW	1	107,379,456 (GRCm39)	missense	probably benign	0.00
R3151:Serpinb7	UTSW	1	107,363,081 (GRCm39)	nonsense	probably null
R3439:Serpinb7	UTSW	1	107,356,081 (GRCm39)	missense	probably damaging	1.00
R4064:Serpinb7	UTSW	1	107,373,766 (GRCm39)	missense	probably benign	0.09
R4590:Serpinb7	UTSW	1	107,379,563 (GRCm39)	missense	probably damaging	1.00
R5260:Serpinb7	UTSW	1	107,362,479 (GRCm39)	missense	possibly damaging	0.74
R5637:Serpinb7	UTSW	1	107,356,037 (GRCm39)	missense	probably damaging	1.00
R5914:Serpinb7	UTSW	1	107,379,580 (GRCm39)	missense	probably damaging	1.00
R5992:Serpinb7	UTSW	1	107,373,726 (GRCm39)	missense	probably damaging	1.00
R6013:Serpinb7	UTSW	1	107,377,919 (GRCm39)	missense	probably benign
R6317:Serpinb7	UTSW	1	107,379,436 (GRCm39)	missense	probably damaging	1.00
R6494:Serpinb7	UTSW	1	107,363,076 (GRCm39)	nonsense	probably null
R7181:Serpinb7	UTSW	1	107,378,052 (GRCm39)	missense	probably benign	0.01
R8011:Serpinb7	UTSW	1	107,362,487 (GRCm39)	missense	possibly damaging	0.87
R8226:Serpinb7	UTSW	1	107,375,980 (GRCm39)	splice site	probably null
R9097:Serpinb7	UTSW	1	107,377,907 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCCAATATGCACAGGGATTGGAC -3'
(R):5'- TGGACTCAGGAAGCTGCTTTTCAAC -3'

Sequencing Primer
(F):5'- TCATGAGTTAAACAAGCAACCTG -3'
(R):5'- TTTGATACGTAGAGACGACCTCC -3'

Posted On

2013-05-23