Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Aadacl3'

717354

Institutional Source

Beutler Lab

Gene Symbol

Aadacl3

Ensembl Gene

ENSMUSG00000078507

Gene Name

arylacetamide deacetylase like 3

Synonyms

LOC230883

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144180341-144190326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144182989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 160 (Y160H)

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: Y160H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: Y160H

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

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	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
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
R9642:Aadacl3	UTSW	4	144,182,512 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GATCAAAATCTGAGCCTTGATCC -3'
(R):5'- GGCAATTCCACCTTCTGAACC -3'

Sequencing Primer
(F):5'- CCTTGATCCGGGGGAGATCTG -3'
(R):5'- CCTTCTGAACCTAAGTGGCAG -3'

Posted On

2022-07-18