Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Aoah'

551009

Institutional Source

Beutler Lab

Gene Symbol

Aoah

Ensembl Gene

ENSMUSG00000021322

Gene Name

acyloxyacyl hydrolase

Synonyms

4930433E13Rik

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20978283-21220787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21207485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 568 (F568S)

Ref Sequence

ENSEMBL: ENSMUSP00000021757 (fasta)

Gene Model

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

AlphaFold

O35298

Predicted Effect

probably damaging
Transcript: ENSMUST00000021757
AA Change: F568S

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

SMART Domains

Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: F568S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAATCAGGATAGTGAGTTTCCTG -3'
(R):5'- AAGGTCTGTCCCCAACTGAG -3'

Sequencing Primer
(F):5'- CTGGCTGCAAACGTATCATG -3'
(R):5'- TCTGTCCCCAACTGAGAGGAAAG -3'

Posted On

2019-05-15