Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Serpinb7'

558956

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

045270-MU

Accession Numbers

Essential gene?

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

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107350418-107380419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107378052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 248 (E248D)

Ref Sequence

ENSEMBL: ENSMUSP00000083896 (fasta)

Gene Model

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

AlphaFold

Q9D695

Predicted Effect

probably benign
Transcript: ENSMUST00000086690
AA Change: E248D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: E248D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	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
R0455:Serpinb7	UTSW	1	107,379,340 (GRCm39)	missense	possibly damaging	0.91
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
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'- AGGCTTGTAAACACCTCTTTGTG -3'
(R):5'- GGATCAGAACTTACATAGTCCAATG -3'

Sequencing Primer
(F):5'- GTAAACACCTCTTTGTGATCTGAC -3'
(R):5'- TCCTTGATTCTAGCCTTCTATAGTG -3'

Posted On

2019-06-26