Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:Serpinb7'

264376

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

040603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107350418-107380419 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107363081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 82 (R82*)

Ref Sequence

ENSEMBL: ENSMUSP00000119217 (fasta)

Gene Model

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

AlphaFold

Q9D695

Predicted Effect

probably null
Transcript: ENSMUST00000086690
AA Change: R82*

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: R82*

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

Predicted Effect

probably null
Transcript: ENSMUST00000154538
AA Change: R82*

SMART Domains

Protein: ENSMUSP00000119217
Gene: ENSMUSG00000067001
AA Change: R82*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158653

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Echdc1	A	G	10: 29,198,360 (GRCm39)	T102A	possibly damaging	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
F2rl2	G	A	13: 95,837,638 (GRCm39)	V228I	probably benign	Het
Fads3	T	G	19: 10,035,262 (GRCm39)	S438A	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or12j2	A	T	7: 139,916,243 (GRCm39)	H156L	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rab33b	A	T	3: 51,401,069 (GRCm39)	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	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
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'- CACTGATAAGTATGAGGATTTGCTTGC -3'
(R):5'- TGTTGAACACCATAGCAGCATC -3'

Sequencing Primer
(F):5'- CTGTTTTTGAAGCAATGTTTTCCAG -3'
(R):5'- TTATGCCTCATAGGAAGGTAAAAGAC -3'

Posted On

2015-02-05