Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Serpinb7'

168753

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

039546-MU

Accession Numbers

Essential gene?

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

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107350418-107380419 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107379390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 266 (K266*)

Ref Sequence

ENSEMBL: ENSMUSP00000083896 (fasta)

Gene Model

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

AlphaFold

Q9D695

Predicted Effect

probably null
Transcript: ENSMUST00000086690
AA Change: K266*

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: K266*

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,614,356 (GRCm39)	N488S	probably benign	Het
Acot10	G	A	15: 20,665,593 (GRCm39)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,177,349 (GRCm39)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,944,654 (GRCm39)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Agt	A	G	8: 125,286,194 (GRCm39)	F296S	probably damaging	Het
Akap14	T	C	X: 36,427,618 (GRCm39)	D39G	possibly damaging	Het
Akt3	T	C	1: 176,930,608 (GRCm39)	M117V	probably benign	Het
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,207,251 (GRCm39)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,599,332 (GRCm39)	K724*	probably null	Het
Ccdc91	A	G	6: 147,435,670 (GRCm39)	T85A	possibly damaging	Het
Ccdc9b	T	G	2: 118,591,013 (GRCm39)	K173N	probably damaging	Het
Cdh3	C	T	8: 107,265,629 (GRCm39)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,426,876 (GRCm39)	I482V	probably benign	Het
Cnot9	A	G	1: 74,562,759 (GRCm39)	E176G	probably damaging	Het
Cntnap4	T	G	8: 113,608,395 (GRCm39)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,869,605 (GRCm39)	M1K	probably null	Het
Cyp2c23	A	G	19: 43,993,947 (GRCm39)	I473T	probably benign	Het
Dbil5	T	A	11: 76,109,276 (GRCm39)	M60K	probably benign	Het
Defa38	T	A	8: 21,585,217 (GRCm39)	Q75L	probably benign	Het
Dgkg	A	T	16: 22,319,129 (GRCm39)	L644Q	probably damaging	Het
Disp3	T	C	4: 148,334,282 (GRCm39)	I1004V	probably benign	Het
Egf	T	A	3: 129,506,655 (GRCm39)	I599F	probably damaging	Het
Epc2	A	G	2: 49,426,675 (GRCm39)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,313,316 (GRCm39)	V622E	probably benign	Het
Fam227a	C	T	15: 79,510,446 (GRCm39)	V403I	probably benign	Het
Fat2	T	A	11: 55,153,499 (GRCm39)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,886,358 (GRCm39)		probably null	Het
Fras1	A	G	5: 96,676,445 (GRCm39)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,366,832 (GRCm39)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,045,771 (GRCm39)	N113S	probably damaging	Het
Glg1	T	C	8: 111,924,307 (GRCm39)	Y227C	probably damaging	Het
Gm5141	A	T	13: 62,922,084 (GRCm39)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,504,533 (GRCm39)	T104S	probably benign	Het
Jph1	A	C	1: 17,161,876 (GRCm39)	V262G	probably benign	Het
Kank1	C	G	19: 25,387,713 (GRCm39)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,704,325 (GRCm39)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,482,308 (GRCm39)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm39)	W77L	probably null	Het
Nipbl	T	G	15: 8,380,764 (GRCm39)	N676T	probably benign	Het
Obscn	C	T	11: 58,970,986 (GRCm39)	S2300N	probably damaging	Het
Or9a2	T	G	6: 41,748,837 (GRCm39)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,891,896 (GRCm39)	M350L	probably benign	Het
Pecam1	T	C	11: 106,579,682 (GRCm39)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 115,987,300 (GRCm39)	K540N	probably benign	Het
Prdm12	T	A	2: 31,530,205 (GRCm39)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,413,135 (GRCm39)	S679G	probably damaging	Het
Psen2	C	T	1: 180,056,419 (GRCm39)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,583,888 (GRCm39)	T235S	probably benign	Het
Ranbp3	C	T	17: 57,012,527 (GRCm39)	P182L	probably benign	Het
Sesn3	T	C	9: 14,219,817 (GRCm39)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,184,535 (GRCm39)	M818T	probably damaging	Het
Slc25a53	C	A	X: 135,916,084 (GRCm39)	C4F	unknown	Het
Snx1	T	A	9: 66,003,879 (GRCm39)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,769,004 (GRCm39)	S46A	possibly damaging	Het
Taf4	A	G	2: 179,574,820 (GRCm39)	F595S	probably damaging	Het
Tec	A	T	5: 72,944,098 (GRCm39)	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,121,136 (GRCm39)	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,675,675 (GRCm39)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm39)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm39)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 56,980,058 (GRCm39)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,476,728 (GRCm39)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,123,410 (GRCm39)	P186S	probably 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
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
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'- TCCAGATCCATTTCATGCACTGCTG -3'
(R):5'- TGGACTCAGGAAGCTGCTTTTCAAC -3'

Sequencing Primer
(F):5'- TTCATGCACTGCTGTAGAAAAACC -3'
(R):5'- GAGACCTCTATGAATGACTTGTGC -3'

Posted On

2014-04-13