Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Serpinb7'

510009

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

044417-MU

Accession Numbers

Essential gene?

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

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107350418-107380419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107379436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 281 (I281T)

Ref Sequence

ENSEMBL: ENSMUSP00000083896 (fasta)

Gene Model

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

AlphaFold

Q9D695

Predicted Effect

probably damaging
Transcript: ENSMUST00000086690
AA Change: I281T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: I281T

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

Meta Mutation Damage Score

0.1448

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

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
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	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
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
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'- GAAGGGTGTCACCACAGAAC -3'
(R):5'- ACTCAGGAAGCTGCTTTTCAAC -3'

Sequencing Primer
(F):5'- CAGAACACCAGATGTCATTGTAG -3'
(R):5'- CAACAATGTTATTTTCTGTGGCAGC -3'

Posted On

2018-04-02