Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Serpina9'

285388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina9

Ensembl Gene

ENSMUSG00000058260

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

Synonyms

Centerin, 2310014L03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

103994743-104013755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104008600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 98 (R98Q)

Ref Sequence

ENSEMBL: ENSMUSP00000130064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058464] [ENSMUST00000164023]

AlphaFold

Q9D7D2

Predicted Effect

probably benign
Transcript: ENSMUST00000058464
AA Change: R98Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: R98Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	55	415	1.27e-158	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164023
AA Change: R98Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130064
Gene: ENSMUSG00000058260
AA Change: R98Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	55	205	8.9e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Serpina9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Serpina9	APN	12	104008586	missense	probably damaging	1.00
IGL02692:Serpina9	APN	12	104008406	missense	probably damaging	1.00
IGL03149:Serpina9	APN	12	104008610	nonsense	probably null
IGL03134:Serpina9	UTSW	12	104001437	missense	probably null	0.18
R0119:Serpina9	UTSW	12	104001470	missense	probably benign	0.18
R0299:Serpina9	UTSW	12	104001470	missense	probably benign	0.18
R0499:Serpina9	UTSW	12	104001470	missense	probably benign	0.18
R1477:Serpina9	UTSW	12	103997103	missense	possibly damaging	0.90
R1912:Serpina9	UTSW	12	104001249	missense	probably damaging	1.00
R2142:Serpina9	UTSW	12	104008309	missense	probably benign	0.04
R2221:Serpina9	UTSW	12	103998264	missense	probably damaging	0.98
R2413:Serpina9	UTSW	12	104001226	critical splice donor site	probably null
R3939:Serpina9	UTSW	12	104008892	start codon destroyed	probably benign	0.01
R4515:Serpina9	UTSW	12	104001294	missense	probably benign	0.14
R5242:Serpina9	UTSW	12	104008385	missense	probably benign	0.09
R5589:Serpina9	UTSW	12	104001469	missense	probably benign	0.00
R5900:Serpina9	UTSW	12	104008871	nonsense	probably null
R6171:Serpina9	UTSW	12	104008419	nonsense	probably null
R6195:Serpina9	UTSW	12	104001407	missense	probably damaging	0.96
R6566:Serpina9	UTSW	12	103997037	missense	possibly damaging	0.61
R6995:Serpina9	UTSW	12	104001236	missense	probably damaging	1.00
R7762:Serpina9	UTSW	12	104001316	missense	probably damaging	0.98
R7808:Serpina9	UTSW	12	104001225	critical splice donor site	probably null
R7860:Serpina9	UTSW	12	104001421	missense	probably benign	0.01
R7935:Serpina9	UTSW	12	103998162	missense	probably damaging	1.00
R9041:Serpina9	UTSW	12	104001478	missense
Z1176:Serpina9	UTSW	12	104001284	missense	probably damaging	1.00

Posted On

2015-04-16