Mutagenetix > Incidental Mutation

Incidental Mutation 'R6973:Aadacl3'

543703

Institutional Source

Beutler Lab

Gene Symbol

Aadacl3

Ensembl Gene

ENSMUSG00000078507

Gene Name

arylacetamide deacetylase like 3

Synonyms

LOC230883

MMRRC Submission

045083-MU

Accession Numbers

Essential gene?

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

Stock #

R6973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144180341-144190326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144182760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 236 (Y236C)

Ref Sequence

ENSEMBL: ENSMUSP00000101375 (fasta)

Gene Model

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

AlphaFold

A2A7Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000105749
AA Change: Y236C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: Y236C

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,331,866 (GRCm39)	C1461*	probably null	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
Atp6v1c1	A	G	15: 38,690,794 (GRCm39)	N315S	probably damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
C2cd4d	G	T	3: 94,271,130 (GRCm39)	R132L	probably damaging	Het
Cd244a	A	G	1: 171,401,775 (GRCm39)	Y167C	probably damaging	Het
Chd4	A	G	6: 125,099,825 (GRCm39)	N1666D	possibly damaging	Het
Cubn	A	G	2: 13,386,648 (GRCm39)	I1539T	possibly damaging	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Dgka	C	T	10: 128,565,463 (GRCm39)		probably null	Het
Ephb4	T	G	5: 137,368,066 (GRCm39)	V737G	probably damaging	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Exoc4	G	T	6: 33,556,965 (GRCm39)	C490F	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gpbp1l1	A	G	4: 116,438,479 (GRCm39)	M192V	possibly damaging	Het
Ireb2	A	G	9: 54,789,671 (GRCm39)	K115R	probably benign	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or52h7	G	A	7: 104,214,183 (GRCm39)	V252I	probably benign	Het
Or8u3-ps	C	T	2: 85,953,198 (GRCm39)	T310I	probably benign	Het
Pcdhb2	G	C	18: 37,429,416 (GRCm39)	R463P	probably benign	Het
Pcdhgb6	A	T	18: 37,875,526 (GRCm39)	D78V	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Prelid3b	C	A	2: 174,311,155 (GRCm39)	W59L	probably benign	Het
Prex2	T	G	1: 11,182,967 (GRCm39)	S405R	probably damaging	Het
Rp1	G	A	1: 4,422,217 (GRCm39)	Q248*	probably null	Het
Rspo4	T	A	2: 151,709,735 (GRCm39)	C47S	probably damaging	Het
Ryr3	C	A	2: 112,596,656 (GRCm39)	M2499I	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Spata31d1e	A	G	13: 59,890,521 (GRCm39)	I433T	probably benign	Het
Tcn2	T	C	11: 3,867,649 (GRCm39)	*431W	probably null	Het
Tert	A	G	13: 73,776,107 (GRCm39)	E286G	probably benign	Het
Tnni3	A	G	7: 4,521,416 (GRCm39)	I196T	possibly damaging	Het
Unc79	T	C	12: 102,964,699 (GRCm39)	I49T	possibly damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	possibly damaging	Het
Znfx1	T	A	2: 166,898,681 (GRCm39)	H81L	probably benign	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
IGL02590:Aadacl3	APN	4	144,184,404 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGATGTTTTCTGCACCTAGCC -3'
(R):5'- CAAGTACCCAGTGATGAAAGATGAC -3'

Sequencing Primer
(F):5'- TGCACCTAGCCACTTTCTG -3'
(R):5'- ACCCACTTTCTGGAATCATTGGATG -3'

Posted On

2019-05-13