Mutagenetix > Incidental Mutation

Incidental Mutation 'R0369:Aadacl2'

30359

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2

Ensembl Gene

ENSMUSG00000091376

Gene Name

arylacetamide deacetylase like 2

Synonyms

EG639634

MMRRC Submission

038575-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0369 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

59914164-59932841 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 59932143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 219 (Y219*)

Ref Sequence

ENSEMBL: ENSMUSP00000129444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169794]

AlphaFold

B2RWD2

Predicted Effect

probably null
Transcript: ENSMUST00000169794
AA Change: Y219*

SMART Domains

Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: Y219*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:COesterase	91	219	2.7e-7	PFAM
Pfam:Abhydrolase_3	107	272	8.2e-38	PFAM
Pfam:Abhydrolase_3	270	375	3.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195422

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 87.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	G	A	9: 114,129,077 (GRCm39)		noncoding transcript	Het
Adamts13	C	A	2: 26,895,198 (GRCm39)	D1096E	probably benign	Het
Adamts16	T	G	13: 70,927,671 (GRCm39)	K523Q	possibly damaging	Het
Adcy2	A	G	13: 68,820,019 (GRCm39)	F740S	probably benign	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Ccdc97	T	C	7: 25,413,833 (GRCm39)	T283A	probably damaging	Het
Cmpk2	G	T	12: 26,527,150 (GRCm39)	E380*	probably null	Het
Csmd3	A	G	15: 47,833,543 (GRCm39)	I911T	probably damaging	Het
Cyp2c39	T	C	19: 39,502,079 (GRCm39)	L156P	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,866 (GRCm39)	I499V	possibly damaging	Het
Dhx58	A	C	11: 100,592,374 (GRCm39)		probably null	Het
Dip2a	C	T	10: 76,134,621 (GRCm39)	G390S	probably damaging	Het
Dusp10	A	G	1: 183,801,253 (GRCm39)	D340G	probably damaging	Het
Epha1	A	T	6: 42,342,407 (GRCm39)	C314S	probably damaging	Het
Exph5	A	T	9: 53,284,602 (GRCm39)	H561L	probably benign	Het
Fbxw26	A	G	9: 109,552,780 (GRCm39)		probably null	Het
Foxc1	A	C	13: 31,991,495 (GRCm39)	N102T	probably damaging	Het
Fsip2	T	C	2: 82,814,908 (GRCm39)	I3547T	probably benign	Het
Gm5464	G	T	14: 67,106,774 (GRCm39)		probably benign	Het
Gnptab	C	T	10: 88,269,456 (GRCm39)	R720C	possibly damaging	Het
Greb1l	T	C	18: 10,469,375 (GRCm39)	V130A	possibly damaging	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Hnrnpul2	C	A	19: 8,801,777 (GRCm39)	D328E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ift172	T	C	5: 31,410,985 (GRCm39)	Y1691C	probably damaging	Het
Kremen2	T	C	17: 23,961,784 (GRCm39)	D241G	probably benign	Het
Meis2	T	C	2: 115,893,897 (GRCm39)	D5G	possibly damaging	Het
Mrps5	G	A	2: 127,433,749 (GRCm39)	R46K	probably benign	Het
Myh14	C	T	7: 44,310,374 (GRCm39)	V170M	probably damaging	Het
Nexn	T	C	3: 151,953,894 (GRCm39)	N123D	probably benign	Het
Or11g26	T	A	14: 50,753,282 (GRCm39)	M207K	probably benign	Het
Or4d11	A	T	19: 12,013,765 (GRCm39)	S114T	probably benign	Het
Or51l14	T	A	7: 103,101,423 (GRCm39)	I293N	probably damaging	Het
Pacs1	C	T	19: 5,191,726 (GRCm39)	V704M	probably damaging	Het
Papolg	A	G	11: 23,822,425 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,370,543 (GRCm39)	V281A	probably benign	Het
Plpp4	T	G	7: 128,925,190 (GRCm39)	F142V	probably damaging	Het
Prb1a	G	A	6: 132,184,620 (GRCm39)	Q338*	probably null	Het
Psg26	G	T	7: 18,216,481 (GRCm39)	Y119*	probably null	Het
Ptger4	A	G	15: 5,272,491 (GRCm39)	C68R	probably benign	Het
Ptpre	T	A	7: 135,272,444 (GRCm39)	I399N	probably damaging	Het
Ripply2	A	G	9: 86,898,372 (GRCm39)	Y72C	probably damaging	Het
Rp1l1	T	A	14: 64,266,837 (GRCm39)	S808T	possibly damaging	Het
Scn5a	G	A	9: 119,362,838 (GRCm39)	T594I	probably damaging	Het
Sf3b1	T	C	1: 55,037,267 (GRCm39)	D883G	probably benign	Het
Skint5	A	T	4: 113,369,220 (GRCm39)		probably null	Het
Terf1	A	G	1: 15,889,207 (GRCm39)	H212R	probably damaging	Het
Tmco5	T	G	2: 116,711,269 (GRCm39)		probably null	Het
Tnfaip3	A	T	10: 18,882,660 (GRCm39)	Y252*	probably null	Het
Tnrc6a	T	A	7: 122,770,083 (GRCm39)	N624K	probably damaging	Het
Top3a	C	A	11: 60,633,615 (GRCm39)	R827L	probably damaging	Het
Unc79	G	A	12: 103,055,031 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,901,116 (GRCm39)	S422P	probably benign	Het
Utrn	T	C	10: 12,509,766 (GRCm39)	E2402G	probably benign	Het
Wdr3	G	A	3: 100,063,734 (GRCm39)	Q181*	probably null	Het
Zfp536	T	C	7: 37,267,373 (GRCm39)	E681G	probably damaging	Het
Zfp91	C	T	19: 12,747,438 (GRCm39)	V562I	possibly damaging	Het
Zfp942	A	T	17: 22,148,017 (GRCm39)	I204N	probably benign	Het

Other mutations in Aadacl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Aadacl2	APN	3	59,932,097 (GRCm39)	missense	probably benign
IGL01626:Aadacl2	APN	3	59,926,595 (GRCm39)	missense	probably damaging	1.00
IGL01777:Aadacl2	APN	3	59,932,205 (GRCm39)	missense	possibly damaging	0.61
IGL02189:Aadacl2	APN	3	59,932,609 (GRCm39)	missense	probably damaging	0.99
IGL03238:Aadacl2	APN	3	59,932,339 (GRCm39)	missense	probably benign	0.31
R0540:Aadacl2	UTSW	3	59,926,627 (GRCm39)	missense	possibly damaging	0.50
R1440:Aadacl2	UTSW	3	59,932,313 (GRCm39)	missense	probably damaging	0.99
R1589:Aadacl2	UTSW	3	59,917,997 (GRCm39)	missense	probably benign	0.00
R1778:Aadacl2	UTSW	3	59,924,871 (GRCm39)	splice site	probably null
R1781:Aadacl2	UTSW	3	59,932,117 (GRCm39)	missense	probably damaging	1.00
R1812:Aadacl2	UTSW	3	59,932,498 (GRCm39)	missense	probably damaging	1.00
R2411:Aadacl2	UTSW	3	59,924,844 (GRCm39)	missense	possibly damaging	0.94
R4622:Aadacl2	UTSW	3	59,914,474 (GRCm39)	missense	probably damaging	1.00
R4698:Aadacl2	UTSW	3	59,932,460 (GRCm39)	missense	probably benign	0.00
R5326:Aadacl2	UTSW	3	59,932,484 (GRCm39)	missense	probably damaging	1.00
R5542:Aadacl2	UTSW	3	59,932,484 (GRCm39)	missense	probably damaging	1.00
R6314:Aadacl2	UTSW	3	59,924,824 (GRCm39)	missense	probably damaging	1.00
R6469:Aadacl2	UTSW	3	59,932,210 (GRCm39)	missense	probably benign	0.24
R6953:Aadacl2	UTSW	3	59,932,181 (GRCm39)	missense	possibly damaging	0.78
R7082:Aadacl2	UTSW	3	59,932,306 (GRCm39)	missense	probably damaging	1.00
R7206:Aadacl2	UTSW	3	59,932,662 (GRCm39)	missense	probably benign	0.17
R7967:Aadacl2	UTSW	3	59,932,169 (GRCm39)	missense	probably benign
R8000:Aadacl2	UTSW	3	59,924,796 (GRCm39)	missense	possibly damaging	0.60
R8731:Aadacl2	UTSW	3	59,932,367 (GRCm39)	missense	probably benign	0.08
R8855:Aadacl2	UTSW	3	59,914,511 (GRCm39)	missense	probably benign	0.00
R8866:Aadacl2	UTSW	3	59,914,511 (GRCm39)	missense	probably benign	0.00
R8979:Aadacl2	UTSW	3	59,932,545 (GRCm39)	missense	probably damaging	1.00
R9287:Aadacl2	UTSW	3	59,932,573 (GRCm39)	missense	probably damaging	1.00
R9674:Aadacl2	UTSW	3	59,914,472 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ATGACAGCACTCTGTAGGTTTGTTACC -3'
(R):5'- GGAGAAAGCCGATCTTCCAAGCAC -3'

Sequencing Primer
(F):5'- GCACTCTGTAGGTTTGTTACCATTTC -3'
(R):5'- TTCCAAGCACAGGCTCAGTG -3'

Posted On

2013-04-24