Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Serpinb9e'

300181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb9e

Ensembl Gene

ENSMUSG00000062342

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9e

Synonyms

NK26, ovalbumin, Spi14

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

33433595-33444833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33441742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 225 (I225L)

Ref Sequence

ENSEMBL: ENSMUSP00000071769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071873]

AlphaFold

O08806

Predicted Effect

probably benign
Transcript: ENSMUST00000071873
AA Change: I225L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: I225L

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.82e-168	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Serpinb9e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Serpinb9e	APN	13	33,439,108 (GRCm39)	missense	probably damaging	0.97
IGL02352:Serpinb9e	APN	13	33,441,803 (GRCm39)	splice site	probably benign
IGL02359:Serpinb9e	APN	13	33,441,803 (GRCm39)	splice site	probably benign
IGL02859:Serpinb9e	APN	13	33,435,633 (GRCm39)	missense	possibly damaging	0.83
R0257:Serpinb9e	UTSW	13	33,441,664 (GRCm39)	missense	probably benign	0.24
R0751:Serpinb9e	UTSW	13	33,443,757 (GRCm39)	missense	probably benign	0.00
R1101:Serpinb9e	UTSW	13	33,444,071 (GRCm39)	missense	probably benign	0.10
R1170:Serpinb9e	UTSW	13	33,441,735 (GRCm39)	nonsense	probably null
R1184:Serpinb9e	UTSW	13	33,443,757 (GRCm39)	missense	probably benign	0.00
R1253:Serpinb9e	UTSW	13	33,439,102 (GRCm39)	missense	possibly damaging	0.77
R1405:Serpinb9e	UTSW	13	33,444,009 (GRCm39)	missense	probably benign
R1405:Serpinb9e	UTSW	13	33,444,009 (GRCm39)	missense	probably benign
R1463:Serpinb9e	UTSW	13	33,439,099 (GRCm39)	missense	probably benign
R1566:Serpinb9e	UTSW	13	33,437,477 (GRCm39)	missense	probably damaging	1.00
R1924:Serpinb9e	UTSW	13	33,437,428 (GRCm39)	missense	probably benign	0.07
R1964:Serpinb9e	UTSW	13	33,437,474 (GRCm39)	missense	probably benign	0.04
R2153:Serpinb9e	UTSW	13	33,436,961 (GRCm39)	missense	probably damaging	1.00
R2405:Serpinb9e	UTSW	13	33,444,063 (GRCm39)	missense	probably benign
R2972:Serpinb9e	UTSW	13	33,439,126 (GRCm39)	missense	probably benign
R2973:Serpinb9e	UTSW	13	33,439,126 (GRCm39)	missense	probably benign
R2974:Serpinb9e	UTSW	13	33,439,126 (GRCm39)	missense	probably benign
R3854:Serpinb9e	UTSW	13	33,439,137 (GRCm39)	missense	probably benign	0.40
R4173:Serpinb9e	UTSW	13	33,439,141 (GRCm39)	missense	probably damaging	0.97
R4937:Serpinb9e	UTSW	13	33,436,935 (GRCm39)	missense	probably benign	0.11
R4949:Serpinb9e	UTSW	13	33,435,591 (GRCm39)	missense	possibly damaging	0.81
R5347:Serpinb9e	UTSW	13	33,441,767 (GRCm39)	missense	probably damaging	1.00
R5976:Serpinb9e	UTSW	13	33,439,112 (GRCm39)	missense	probably benign
R5979:Serpinb9e	UTSW	13	33,439,036 (GRCm39)	missense	probably benign	0.18
R5991:Serpinb9e	UTSW	13	33,443,790 (GRCm39)	missense	probably damaging	1.00
R6059:Serpinb9e	UTSW	13	33,441,757 (GRCm39)	missense	probably benign	0.29
R6884:Serpinb9e	UTSW	13	33,435,609 (GRCm39)	missense	probably benign	0.33
R8007:Serpinb9e	UTSW	13	33,435,605 (GRCm39)	missense	probably benign	0.27
R8504:Serpinb9e	UTSW	13	33,439,092 (GRCm39)	missense	probably benign
R9802:Serpinb9e	UTSW	13	33,439,078 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16