Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Aadacl2'

436009

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2

Ensembl Gene

ENSMUSG00000091376

Gene Name

arylacetamide deacetylase like 2

Synonyms

EG639634

MMRRC Submission

043100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59914164-59932841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59932484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 333 (T333I)

Ref Sequence

ENSEMBL: ENSMUSP00000129444 (fasta)

Gene Model

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

AlphaFold

B2RWD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169794
AA Change: T333I

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

SMART Domains

Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: T333I

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,333,798 (GRCm39)	R574C	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,646 (GRCm39)	Q226*	probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Cdh4	T	A	2: 179,502,019 (GRCm39)	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo7	A	C	10: 85,869,149 (GRCm39)	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Fuom	A	T	7: 139,680,025 (GRCm39)	*109R	probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighm	A	G	12: 113,382,601 (GRCm39)		probably benign	Het
Ighv1-85	T	A	12: 115,963,847 (GRCm39)	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,574,833 (GRCm39)	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,760,187 (GRCm39)	M1L	probably benign	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Itga9	T	C	9: 118,672,729 (GRCm39)	F154L	possibly damaging	Het
Itprid1	C	A	6: 55,955,380 (GRCm39)	P996Q	probably damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Marveld3	A	T	8: 110,675,249 (GRCm39)	I189K	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,691,354 (GRCm39)		probably benign	Het
Muc21	T	C	17: 35,933,395 (GRCm39)		probably benign	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,316,353 (GRCm39)	D1852G	probably benign	Het
Ndc80	A	T	17: 71,807,276 (GRCm39)	V560D	probably benign	Het
Nscme3l	A	T	19: 5,553,463 (GRCm39)	V106D	probably damaging	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56a3	A	T	7: 104,735,565 (GRCm39)	D214V	probably damaging	Het
Or6a2	A	T	7: 106,600,286 (GRCm39)	S260R	probably damaging	Het
Or9i1b	T	C	19: 13,896,411 (GRCm39)	V9A	probably benign	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Plxna4	T	A	6: 32,183,165 (GRCm39)	I913F	probably damaging	Het
Psmc1	T	C	12: 100,086,399 (GRCm39)		probably null	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Safb2	G	A	17: 56,882,647 (GRCm39)	R329C	probably damaging	Het
Septin14	T	C	5: 129,774,926 (GRCm39)	H83R	probably damaging	Het
Slc16a10	A	G	10: 39,952,784 (GRCm39)	F237L	probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Sned1	T	C	1: 93,199,324 (GRCm39)	I468T	probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trip12	A	T	1: 84,727,065 (GRCm39)	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Ubqlnl	G	A	7: 103,798,904 (GRCm39)	Q198*	probably null	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Usp46	A	T	5: 74,189,902 (GRCm39)	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,285,108 (GRCm39)	T276I	probably benign	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zfp12	C	T	5: 143,230,240 (GRCm39)	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,739,140 (GRCm39)	F1042L	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
R0369:Aadacl2	UTSW	3	59,932,143 (GRCm39)	nonsense	probably null
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
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'- CAAGGATGAGGCACTTCCAC -3'
(R):5'- TTTTATCCTCAGCCCTAGATCTAAG -3'

Sequencing Primer
(F):5'- GAGTCCAGACATCTCTTCAGG -3'
(R):5'- CTCAGCCCTAGATCTAAGTGAAGTG -3'

Posted On

2016-10-24