Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02590:Aadacl3'

299700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aadacl3

Ensembl Gene

ENSMUSG00000078507

Gene Name

arylacetamide deacetylase like 3

Synonyms

LOC230883

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

144180341-144190326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144184404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 118 (F118S)

Ref Sequence

ENSEMBL: ENSMUSP00000101375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105749] [ENSMUST00000177649]

AlphaFold

A2A7Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000105749
AA Change: F118S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: F118S

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	263	1.8e-33	PFAM
Pfam:Abhydrolase_3	302	382	6.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177649

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,234,151 (GRCm39)		probably benign	Het
Bok	T	C	1: 93,614,397 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,235 (GRCm39)	V585I	possibly damaging	Het
Chd2	C	T	7: 73,102,948 (GRCm39)	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,889,732 (GRCm39)	T54S	probably benign	Het
Dnah7b	A	T	1: 46,162,937 (GRCm39)	T428S	probably benign	Het
Efhc1	T	C	1: 21,037,608 (GRCm39)	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,836,250 (GRCm39)	I404F	probably damaging	Het
Glra2	T	C	X: 164,037,222 (GRCm39)	N237S	probably benign	Het
Gypc	A	G	18: 32,663,060 (GRCm39)	*96R	probably null	Het
Il15	T	C	8: 83,069,912 (GRCm39)	I51V	probably benign	Het
Itgb2	T	C	10: 77,395,347 (GRCm39)	C483R	probably damaging	Het
Kdr	C	T	5: 76,096,983 (GRCm39)	D1272N	probably benign	Het
Kif14	C	A	1: 136,423,742 (GRCm39)	T969K	probably benign	Het
Klhl42	T	C	6: 146,993,810 (GRCm39)	S261P	probably damaging	Het
Lrp1	C	A	10: 127,388,660 (GRCm39)	G3263V	probably damaging	Het
Mid1	A	G	X: 168,710,019 (GRCm39)	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,121,224 (GRCm39)	L698*	probably null	Het
Myh14	T	G	7: 44,273,503 (GRCm39)	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,570,159 (GRCm39)	E267K	probably damaging	Het
Obox5	T	C	7: 15,491,517 (GRCm39)	I19T	possibly damaging	Het
Or13a20	A	G	7: 140,232,305 (GRCm39)		probably null	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcnx1	A	G	12: 82,041,752 (GRCm39)	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,136,784 (GRCm39)	D293G	probably benign	Het
Prpf4b	T	C	13: 35,072,129 (GRCm39)		probably benign	Het
Psapl1	A	T	5: 36,362,397 (GRCm39)	T330S	probably benign	Het
Rap1gap	A	G	4: 137,447,611 (GRCm39)	T453A	probably damaging	Het
Ric1	T	A	19: 29,544,881 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,840,020 (GRCm39)	E1590G	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Tlr12	A	G	4: 128,511,182 (GRCm39)	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,279,906 (GRCm39)	S8P	possibly damaging	Het
Tyms	C	A	5: 30,269,149 (GRCm39)	V75L	probably benign	Het
Vmn1r230	T	A	17: 21,067,172 (GRCm39)	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,227,356 (GRCm39)		probably benign	Het
Wdr27	C	T	17: 15,138,041 (GRCm39)	A388T	possibly damaging	Het

Other mutations in Aadacl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Aadacl3	APN	4	144,190,226 (GRCm39)	missense	probably benign	0.18
IGL02629:Aadacl3	APN	4	144,190,199 (GRCm39)	missense	possibly damaging	0.91
IGL03308:Aadacl3	APN	4	144,182,821 (GRCm39)	missense	probably damaging	0.99
R0521:Aadacl3	UTSW	4	144,182,464 (GRCm39)	missense	probably damaging	1.00
R0570:Aadacl3	UTSW	4	144,190,130 (GRCm39)	nonsense	probably null
R1203:Aadacl3	UTSW	4	144,190,140 (GRCm39)	missense	probably benign	0.00
R1701:Aadacl3	UTSW	4	144,190,142 (GRCm39)	missense	probably damaging	1.00
R2033:Aadacl3	UTSW	4	144,182,953 (GRCm39)	missense	probably benign	0.00
R2077:Aadacl3	UTSW	4	144,183,604 (GRCm39)	unclassified	probably benign
R2226:Aadacl3	UTSW	4	144,190,295 (GRCm39)	missense	possibly damaging	0.46
R2328:Aadacl3	UTSW	4	144,182,502 (GRCm39)	missense	probably benign	0.00
R4801:Aadacl3	UTSW	4	144,182,802 (GRCm39)	missense	probably damaging	1.00
R4802:Aadacl3	UTSW	4	144,182,802 (GRCm39)	missense	probably damaging	1.00
R4820:Aadacl3	UTSW	4	144,184,527 (GRCm39)	missense	probably damaging	0.99
R4959:Aadacl3	UTSW	4	144,183,656 (GRCm39)	missense	probably benign	0.37
R5076:Aadacl3	UTSW	4	144,182,640 (GRCm39)	missense	possibly damaging	0.56
R5766:Aadacl3	UTSW	4	144,182,439 (GRCm39)	missense	probably damaging	1.00
R6643:Aadacl3	UTSW	4	144,183,644 (GRCm39)	missense	probably damaging	1.00
R6973:Aadacl3	UTSW	4	144,182,760 (GRCm39)	missense	probably benign	0.05
R7563:Aadacl3	UTSW	4	144,184,464 (GRCm39)	missense	probably damaging	0.99
R8254:Aadacl3	UTSW	4	144,182,760 (GRCm39)	missense	probably benign	0.05
R8717:Aadacl3	UTSW	4	144,182,778 (GRCm39)	missense	probably damaging	1.00
R9498:Aadacl3	UTSW	4	144,182,989 (GRCm39)	missense	probably damaging	0.99
R9642:Aadacl3	UTSW	4	144,182,512 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16