Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Aoah'

549292

Institutional Source

Beutler Lab

Gene Symbol

Aoah

Ensembl Gene

ENSMUSG00000021322

Gene Name

acyloxyacyl hydrolase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20794113-21036617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20910106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 187 (D187G)

Ref Sequence

ENSEMBL: ENSMUSP00000021757 (fasta)

Gene Model

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

AlphaFold

O35298

Predicted Effect

probably damaging
Transcript: ENSMUST00000021757
AA Change: D187G

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

SMART Domains

Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: D187G

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

Meta Mutation Damage Score

0.3047

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Aoah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Aoah	APN	13	21005094	missense	probably damaging	0.97
IGL01561:Aoah	APN	13	20905735	splice site	probably benign
IGL01717:Aoah	APN	13	20999977	missense	probably damaging	0.99
IGL01997:Aoah	APN	13	20999938	missense	probably benign	0.00
IGL02212:Aoah	APN	13	21002901	missense	probably benign	0.05
IGL02325:Aoah	APN	13	20917125	missense	probably damaging	0.97
IGL03028:Aoah	APN	13	20816582	missense	possibly damaging	0.62
IGL03304:Aoah	APN	13	20915010	splice site	probably benign
IGL03352:Aoah	APN	13	21000043	missense	probably benign	0.01
H8562:Aoah	UTSW	13	20816524	missense	probably damaging	1.00
PIT4402001:Aoah	UTSW	13	20794510	missense	probably benign	0.00
R0255:Aoah	UTSW	13	20979540	nonsense	probably null
R0432:Aoah	UTSW	13	20911198	splice site	probably benign
R0501:Aoah	UTSW	13	21005073	missense	probably benign	0.16
R1036:Aoah	UTSW	13	20840169	splice site	probably benign
R1119:Aoah	UTSW	13	20914938	splice site	probably benign
R1203:Aoah	UTSW	13	20816594	missense	probably damaging	1.00
R1589:Aoah	UTSW	13	21002948	missense	probably damaging	0.99
R1662:Aoah	UTSW	13	21000113	splice site	probably null
R1907:Aoah	UTSW	13	20910094	missense	probably damaging	1.00
R1959:Aoah	UTSW	13	20794394	start codon destroyed	probably null	0.89
R2145:Aoah	UTSW	13	20840096	missense	probably damaging	1.00
R2237:Aoah	UTSW	13	20794311	start gained	probably benign
R3438:Aoah	UTSW	13	20917072	missense	probably benign	0.00
R4226:Aoah	UTSW	13	20979526	missense	possibly damaging	0.50
R4868:Aoah	UTSW	13	20914981	nonsense	probably null
R5026:Aoah	UTSW	13	20914959	missense	probably damaging	1.00
R5139:Aoah	UTSW	13	21023237	missense	possibly damaging	0.61
R5624:Aoah	UTSW	13	20995479	missense	probably damaging	1.00
R5853:Aoah	UTSW	13	20999902	missense	probably benign	0.01
R6134:Aoah	UTSW	13	20911123	missense	probably damaging	1.00
R6459:Aoah	UTSW	13	20999942	missense	probably damaging	0.99
R7103:Aoah	UTSW	13	21023315	missense	probably damaging	1.00
R8198:Aoah	UTSW	13	20917120	missense	probably damaging	1.00
R8340:Aoah	UTSW	13	20999942	missense	probably damaging	0.99
R8723:Aoah	UTSW	13	21000010	missense	possibly damaging	0.81
R8790:Aoah	UTSW	13	20851670	missense	probably benign	0.16
R8811:Aoah	UTSW	13	20999951	missense	probably damaging	1.00
R8873:Aoah	UTSW	13	20905682	missense	probably benign	0.00
R8973:Aoah	UTSW	13	20840155	missense	probably benign	0.00
R9287:Aoah	UTSW	13	21002709	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTCTCATAGGTCCACAGATGCC -3'
(R):5'- CATAGAGAACTGCAGCTGGG -3'

Sequencing Primer
(F):5'- CCACAGATGCCGGACTTTATTTTTAG -3'
(R):5'- AGCAGAACTGGGTGTATGGTTTAC -3'

Posted On

2019-05-15