Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Aoah'

408283

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 #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

20978283-21220787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21000752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 62 (Q62L)

Ref Sequence

ENSEMBL: ENSMUSP00000152286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021757] [ENSMUST00000221982]

AlphaFold

O35298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021757
AA Change: Q62L

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: Q62L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221982
AA Change: Q62L

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,506,062 (GRCm39)	V86G	probably benign	Het
Adgra3	A	T	5: 50,174,194 (GRCm39)	W115R	probably benign	Het
Ahr	G	A	12: 35,554,709 (GRCm39)	A470V	probably benign	Het
Arhgef12	A	T	9: 42,937,524 (GRCm39)	D100E	possibly damaging	Het
Asic1	A	G	15: 99,570,038 (GRCm39)	N120D	probably benign	Het
Atp2b2	A	G	6: 113,736,103 (GRCm39)	L988P	probably damaging	Het
Atxn2	T	A	5: 121,948,972 (GRCm39)	H789Q	probably damaging	Het
Clk1	G	T	1: 58,460,261 (GRCm39)	S123*	probably null	Het
Col10a1	C	T	10: 34,271,012 (GRCm39)	A328V	probably benign	Het
Col26a1	G	T	5: 136,771,972 (GRCm39)	D415E	possibly damaging	Het
Ctla2a	A	G	13: 61,083,273 (GRCm39)		probably benign	Het
Cwf19l2	A	G	9: 3,430,622 (GRCm39)	E318G	probably benign	Het
Dnajc16	C	T	4: 141,495,043 (GRCm39)	W523*	probably null	Het
Ehhadh	T	C	16: 21,581,144 (GRCm39)	E616G	probably damaging	Het
F5	A	T	1: 164,020,569 (GRCm39)	K1015*	probably null	Het
Fam78a	A	G	2: 31,972,894 (GRCm39)	W9R	possibly damaging	Het
Frs2	A	T	10: 116,909,838 (GRCm39)	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111 (GRCm38)	M200L	probably benign	Het
Gm44511	T	C	6: 128,757,358 (GRCm39)	S179G	probably damaging	Het
Gpr25	G	A	1: 136,188,550 (GRCm39)	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471 (GRCm39)	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,799,215 (GRCm39)		probably null	Het
Kl	A	G	5: 150,915,015 (GRCm39)	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,001,577 (GRCm39)	V45G	probably damaging	Het
Mppe1	A	C	18: 67,360,755 (GRCm39)	C261W	probably damaging	Het
Nin	T	C	12: 70,082,044 (GRCm39)	T1640A	probably benign	Het
Or51a8	T	A	7: 102,550,036 (GRCm39)	I154N	possibly damaging	Het
Or51ac3	A	G	7: 103,213,796 (GRCm39)		probably null	Het
Or5c1	C	T	2: 37,221,968 (GRCm39)	L70F	probably damaging	Het
Or5p59	T	A	7: 107,703,380 (GRCm39)	M288K	probably damaging	Het
Or7g26	A	T	9: 19,230,664 (GRCm39)	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,680,559 (GRCm39)	N166D	probably damaging	Het
Pank4	T	A	4: 155,054,442 (GRCm39)		probably benign	Het
Pgd	A	G	4: 149,246,084 (GRCm39)		probably null	Het
Pitrm1	C	T	13: 6,624,429 (GRCm39)	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rad51	A	C	2: 118,946,795 (GRCm39)	M1L	possibly damaging	Het
Recql5	G	T	11: 115,785,257 (GRCm39)	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,214,287 (GRCm39)	Q133*	probably null	Het
Rpp40	A	T	13: 36,088,494 (GRCm39)	L59Q	probably damaging	Het
Rtca	C	A	3: 116,286,741 (GRCm39)		probably benign	Het
Rtkn	C	T	6: 83,124,853 (GRCm39)	Q108*	probably null	Het
Shoc1	A	C	4: 59,094,274 (GRCm39)	I150S	possibly damaging	Het
Sirt6	C	T	10: 81,463,375 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,649,537 (GRCm39)	V517M	probably benign	Het
Smarca2	G	T	19: 26,655,712 (GRCm39)		probably benign	Het
Snx33	A	T	9: 56,833,735 (GRCm39)	D111E	probably benign	Het
Tgfb1	T	C	7: 25,403,621 (GRCm39)	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,362,806 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,223,213 (GRCm39)	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,837 (GRCm39)	T47A	probably benign	Het
Unc79	T	C	12: 103,139,785 (GRCm39)	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,844,450 (GRCm39)	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,914,328 (GRCm39)	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,974,038 (GRCm39)	I79L	possibly damaging	Het

Other mutations in Aoah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Aoah	APN	13	21,089,905 (GRCm39)	splice site	probably benign
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
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

2016-08-02