Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Aadacl4'

536196

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144613707-144623398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144623180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 336 (V336I)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094510]

AlphaFold

B1AVU5

Predicted Effect

probably benign
Transcript: ENSMUST00000094510
AA Change: V336I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: V336I

Domain	Start	End	E-Value	Type
transmembrane domain	7	28	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	285	9.6e-30	PFAM
Pfam:Abhydrolase_3	272	381	4.9e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,935,994	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287	R570*	probably null	Het
Col12a1	A	T	9: 79,677,234	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,054	Q65L	probably benign	Het
Ddo	A	C	10: 40,637,418	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326		probably null	Het
Ear6	A	G	14: 51,854,428	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186		probably benign	Het
Gm436	A	T	4: 144,670,646	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762		probably null	Het
Neb	G	T	2: 52,293,645	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260	K350Q	probably benign	Het
St13	C	T	15: 81,366,346		probably null	Het
Stard9	A	T	2: 120,714,068	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633		probably null	Het
Tgoln1	A	G	6: 72,615,555	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326	A1431T	probably benign	Het
Zfp592	T	C	7: 81,023,828	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946	T46A	possibly damaging	Het

Other mutations in Aadacl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Aadacl4	APN	4	144617822	critical splice acceptor site	probably null
IGL02836:Aadacl4	APN	4	144623212	missense	possibly damaging	0.79
IGL02949:Aadacl4	APN	4	144617920	missense	probably damaging	1.00
IGL03253:Aadacl4	APN	4	144623288	missense	probably benign	0.05
white_rabbit	UTSW	4	144618028	missense	probably benign	0.03
R0035:Aadacl4	UTSW	4	144617941	missense	probably damaging	0.98
R0268:Aadacl4	UTSW	4	144622995	missense	probably benign	0.00
R1427:Aadacl4	UTSW	4	144623040	missense	probably damaging	1.00
R1672:Aadacl4	UTSW	4	144623319	nonsense	probably null
R2220:Aadacl4	UTSW	4	144618002	missense	probably damaging	0.98
R2353:Aadacl4	UTSW	4	144623209	missense	probably damaging	1.00
R2983:Aadacl4	UTSW	4	144623214	missense	probably damaging	0.98
R4708:Aadacl4	UTSW	4	144623329	missense	probably benign	0.01
R4878:Aadacl4	UTSW	4	144613845	missense	possibly damaging	0.62
R4911:Aadacl4	UTSW	4	144613792	missense	probably damaging	1.00
R5208:Aadacl4	UTSW	4	144617828	missense	probably benign	0.04
R5237:Aadacl4	UTSW	4	144623280	nonsense	probably null
R5568:Aadacl4	UTSW	4	144622794	missense	probably benign	0.03
R5633:Aadacl4	UTSW	4	144618028	missense	probably benign	0.03
R5817:Aadacl4	UTSW	4	144622927	missense	probably benign	0.04
R5848:Aadacl4	UTSW	4	144617858	missense	probably benign	0.11
R5916:Aadacl4	UTSW	4	144622980	missense	possibly damaging	0.93
R6736:Aadacl4	UTSW	4	144623339	missense	possibly damaging	0.82
R6814:Aadacl4	UTSW	4	144623180	missense	probably benign	0.07
R6971:Aadacl4	UTSW	4	144622733	missense	probably damaging	1.00
R6994:Aadacl4	UTSW	4	144623279	missense	probably damaging	1.00
R7074:Aadacl4	UTSW	4	144613863	missense	probably benign
R7353:Aadacl4	UTSW	4	144617920	missense	probably damaging	1.00
R7837:Aadacl4	UTSW	4	144617977	missense	probably damaging	1.00
R7853:Aadacl4	UTSW	4	144618022	missense	probably benign	0.02
R8120:Aadacl4	UTSW	4	144622890	missense	probably benign	0.44
R8549:Aadacl4	UTSW	4	144623156	missense	probably benign
R9043:Aadacl4	UTSW	4	144623220	missense	probably damaging	1.00
R9661:Aadacl4	UTSW	4	144613717	missense	probably damaging	0.96
X0017:Aadacl4	UTSW	4	144623016	missense	probably damaging	1.00
X0065:Aadacl4	UTSW	4	144623109	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTTATATGCATCCAGACACCTG -3'
(R):5'- TGCCCTTTATGTAACTGGCAAC -3'

Sequencing Primer
(F):5'- CCTGGGAGAAGTATAGAAAATGGCTC -3'
(R):5'- CAGCATTTGCAATTTTTATGGAGCAG -3'

Posted On

2018-10-18