Mutagenetix > Incidental Mutation

Incidental Mutation 'R6643:Aadacl3'

525923

Institutional Source

Beutler Lab

Gene Symbol

Aadacl3

Ensembl Gene

ENSMUSG00000078507

Gene Name

arylacetamide deacetylase like 3

Synonyms

LOC230883

MMRRC Submission

044764-MU

Accession Numbers

Essential gene?

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

Stock #

R6643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144180341-144190326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144183644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 140 (S140P)

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: S140P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: S140P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5mc1	A	C	11: 95,964,854 (GRCm39)	C17W	probably damaging	Het
Brd4	A	G	17: 32,417,470 (GRCm39)	S161P	unknown	Het
Cntrob	A	G	11: 69,202,248 (GRCm39)	V448A	possibly damaging	Het
Col22a1	T	C	15: 71,693,886 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,877,830 (GRCm39)	Y2049C	probably damaging	Het
Cpn1	C	T	19: 43,948,472 (GRCm39)	D395N	probably benign	Het
Csmd2	A	G	4: 128,266,390 (GRCm39)	T769A	probably benign	Het
Cts6	T	A	13: 61,349,607 (GRCm39)	H62L	probably damaging	Het
Ddx42	G	T	11: 106,119,646 (GRCm39)	V144F	probably benign	Het
E130308A19Rik	A	G	4: 59,720,561 (GRCm39)	S698G	possibly damaging	Het
Eif2b3	T	C	4: 116,927,954 (GRCm39)	L391P	probably damaging	Het
Gm1043	T	C	5: 37,330,895 (GRCm39)	I525T	probably benign	Het
Kifc1	C	T	17: 34,104,829 (GRCm39)	G59S	probably benign	Het
Lancl1	T	C	1: 67,043,542 (GRCm39)	E360G	probably benign	Het
Lrp4	T	C	2: 91,332,340 (GRCm39)	L1679S	probably benign	Het
Mroh9	T	A	1: 162,903,130 (GRCm39)	D91V	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Ntsr1	T	C	2: 180,142,719 (GRCm39)	I170T	probably damaging	Het
Or2ag15	T	A	7: 106,340,911 (GRCm39)	I77F	probably benign	Het
Or2ag16	A	G	7: 106,351,776 (GRCm39)	I273T	probably benign	Het
Or6n2	T	C	1: 173,897,611 (GRCm39)	L249P	probably damaging	Het
Or6z5	G	A	7: 6,477,720 (GRCm39)	D204N	probably benign	Het
Pcolce	T	A	5: 137,607,165 (GRCm39)	T109S	probably damaging	Het
Reg3b	C	A	6: 78,349,905 (GRCm39)	S148R	possibly damaging	Het
Rps6ka4	A	G	19: 6,809,731 (GRCm39)	S365P	probably damaging	Het
Slc27a4	A	G	2: 29,702,860 (GRCm39)	E563G	probably benign	Het
Slc4a10	C	T	2: 62,059,054 (GRCm39)	T187M	possibly damaging	Het
Slc5a7	G	T	17: 54,583,644 (GRCm39)	Q549K	probably benign	Het
Stxbp3	A	G	3: 108,701,150 (GRCm39)	L573P	probably damaging	Het
Suco	A	T	1: 161,687,001 (GRCm39)	S120T	possibly damaging	Het
Tnni2	G	T	7: 141,998,016 (GRCm39)	G163V	probably damaging	Het
Ttl	T	C	2: 128,923,262 (GRCm39)	I201T	possibly damaging	Het
Vmn1r28	A	G	6: 58,242,945 (GRCm39)	T263A	probably benign	Het
Wdr1	A	T	5: 38,697,521 (GRCm39)	D262E	probably damaging	Het
Xylb	A	G	9: 119,196,559 (GRCm39)	H114R	probably damaging	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het
Zdbf2	A	G	1: 63,343,667 (GRCm39)	E682G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGAGTCCTCACAGCCTAGC -3'
(R):5'- TGGTGGAATGCATCAGATCATG -3'

Sequencing Primer
(F):5'- TCACAGCCTAGCCCTCC -3'
(R):5'- GTTGTTCTGGCAGCTCACAAAAG -3'

Posted On

2018-06-22