Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01561:Aoah'

90862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aoah

Ensembl Gene

ENSMUSG00000021322

Gene Name

acyloxyacyl hydrolase

Synonyms

4930433E13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01561

Quality Score

Status

Chromosome

Chromosomal Location

20978283-21220787 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 21089905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021757]

AlphaFold

O35298

Predicted Effect

probably benign
Transcript: ENSMUST00000021757

SMART Domains

Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SapB	38	113	6.25e-15	SMART
Pfam:Lipase_GDSL	256	542	4.8e-19	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This genes encodes an enzyme that catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides. The encoded protein modulates host inflammatory response to gram-negative bacteria. The proprotein is further cleaved into a large and small chain that interact in a heterodimer. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	G	A	11: 5,821,349 (GRCm39)	D583N	probably damaging	Het
Cdh10	G	T	15: 19,000,012 (GRCm39)	A486S	possibly damaging	Het
Cers2	A	T	3: 95,229,472 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 123,000,975 (GRCm39)	C229*	probably null	Het
Col15a1	T	C	4: 47,312,118 (GRCm39)	V1311A	possibly damaging	Het
Fpr-rs3	C	T	17: 20,844,859 (GRCm39)	G94D	probably damaging	Het
Fsd1	T	A	17: 56,302,363 (GRCm39)	M269K	probably benign	Het
Golga2	A	G	2: 32,186,689 (GRCm39)	M73V	probably benign	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Heg1	A	G	16: 33,587,038 (GRCm39)	N1267S	probably benign	Het
Htra4	A	C	8: 25,523,587 (GRCm39)	I326S	probably damaging	Het
Klhl33	T	C	14: 51,128,888 (GRCm39)	I780M	probably benign	Het
Mertk	T	C	2: 128,578,556 (GRCm39)	S181P	probably damaging	Het
Mpdz	T	C	4: 81,202,851 (GRCm39)	H1882R	probably damaging	Het
Muc13	A	G	16: 33,626,411 (GRCm39)	K317E	possibly damaging	Het
Nek3	A	G	8: 22,619,472 (GRCm39)	F440S	probably damaging	Het
Nrxn2	G	A	19: 6,540,172 (GRCm39)	R831H	probably damaging	Het
Or10w1	T	C	19: 13,632,269 (GRCm39)	F159L	probably benign	Het
Or1q1	T	A	2: 36,886,955 (GRCm39)	F44L	probably benign	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Palmd	A	T	3: 116,717,742 (GRCm39)	S252T	probably damaging	Het
Piezo2	C	A	18: 63,257,685 (GRCm39)	M344I	probably benign	Het
Pygo1	T	A	9: 72,852,570 (GRCm39)	N252K	probably damaging	Het
Rhobtb1	A	G	10: 69,106,221 (GRCm39)	Q262R	probably benign	Het
Xpo1	T	C	11: 23,232,706 (GRCm39)	Y409H	possibly damaging	Het
Zan	T	A	5: 137,462,128 (GRCm39)	E1017V	unknown	Het

Other mutations in Aoah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Aoah	APN	13	21,189,264 (GRCm39)	missense	probably damaging	0.97
IGL01717:Aoah	APN	13	21,184,147 (GRCm39)	missense	probably damaging	0.99
IGL01997:Aoah	APN	13	21,184,108 (GRCm39)	missense	probably benign	0.00
IGL02212:Aoah	APN	13	21,187,071 (GRCm39)	missense	probably benign	0.05
IGL02325:Aoah	APN	13	21,101,295 (GRCm39)	missense	probably damaging	0.97
IGL03028:Aoah	APN	13	21,000,752 (GRCm39)	missense	possibly damaging	0.62
IGL03304:Aoah	APN	13	21,099,180 (GRCm39)	splice site	probably benign
IGL03352:Aoah	APN	13	21,184,213 (GRCm39)	missense	probably benign	0.01
H8562:Aoah	UTSW	13	21,000,694 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Aoah	UTSW	13	20,978,680 (GRCm39)	missense	probably benign	0.00
R0255:Aoah	UTSW	13	21,163,710 (GRCm39)	nonsense	probably null
R0432:Aoah	UTSW	13	21,095,368 (GRCm39)	splice site	probably benign
R0501:Aoah	UTSW	13	21,189,243 (GRCm39)	missense	probably benign	0.16
R1036:Aoah	UTSW	13	21,024,339 (GRCm39)	splice site	probably benign
R1119:Aoah	UTSW	13	21,099,108 (GRCm39)	splice site	probably benign
R1203:Aoah	UTSW	13	21,000,764 (GRCm39)	missense	probably damaging	1.00
R1589:Aoah	UTSW	13	21,187,118 (GRCm39)	missense	probably damaging	0.99
R1662:Aoah	UTSW	13	21,184,283 (GRCm39)	splice site	probably null
R1907:Aoah	UTSW	13	21,094,264 (GRCm39)	missense	probably damaging	1.00
R1959:Aoah	UTSW	13	20,978,564 (GRCm39)	start codon destroyed	probably null	0.89
R2145:Aoah	UTSW	13	21,024,266 (GRCm39)	missense	probably damaging	1.00
R2237:Aoah	UTSW	13	20,978,481 (GRCm39)	start gained	probably benign
R3438:Aoah	UTSW	13	21,101,242 (GRCm39)	missense	probably benign	0.00
R4226:Aoah	UTSW	13	21,163,696 (GRCm39)	missense	possibly damaging	0.50
R4868:Aoah	UTSW	13	21,099,151 (GRCm39)	nonsense	probably null
R5026:Aoah	UTSW	13	21,099,129 (GRCm39)	missense	probably damaging	1.00
R5139:Aoah	UTSW	13	21,207,407 (GRCm39)	missense	possibly damaging	0.61
R5624:Aoah	UTSW	13	21,179,649 (GRCm39)	missense	probably damaging	1.00
R5853:Aoah	UTSW	13	21,184,072 (GRCm39)	missense	probably benign	0.01
R6134:Aoah	UTSW	13	21,095,293 (GRCm39)	missense	probably damaging	1.00
R6459:Aoah	UTSW	13	21,184,112 (GRCm39)	missense	probably damaging	0.99
R7077:Aoah	UTSW	13	21,094,276 (GRCm39)	missense	probably damaging	1.00
R7103:Aoah	UTSW	13	21,207,485 (GRCm39)	missense	probably damaging	1.00
R8198:Aoah	UTSW	13	21,101,290 (GRCm39)	missense	probably damaging	1.00
R8340:Aoah	UTSW	13	21,184,112 (GRCm39)	missense	probably damaging	0.99
R8723:Aoah	UTSW	13	21,184,180 (GRCm39)	missense	possibly damaging	0.81
R8790:Aoah	UTSW	13	21,035,840 (GRCm39)	missense	probably benign	0.16
R8811:Aoah	UTSW	13	21,184,121 (GRCm39)	missense	probably damaging	1.00
R8873:Aoah	UTSW	13	21,089,852 (GRCm39)	missense	probably benign	0.00
R8973:Aoah	UTSW	13	21,024,325 (GRCm39)	missense	probably benign	0.00
R9015:Aoah	UTSW	13	21,184,197 (GRCm39)	synonymous	silent
R9287:Aoah	UTSW	13	21,186,879 (GRCm39)	missense	probably damaging	0.96
R9759:Aoah	UTSW	13	21,000,738 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09