Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Aoah'

104961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aoah

Ensembl Gene

ENSMUSG00000021322

Gene Name

acyloxyacyl hydrolase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

20794113-21036617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20999977 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 404 (S404P)

Ref Sequence

ENSEMBL: ENSMUSP00000021757 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021757
AA Change: S404P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: S404P

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	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
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
R7077:Aoah	UTSW	13	20910106	missense	probably damaging	1.00
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

Posted On

2014-01-21