Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Aadacl4'

449085

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

043397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144613707-144623398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144622927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 251 (I251M)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

probably benign
Transcript: ENSMUST00000094510
AA Change: I251M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: I251M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,549,083	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,215,210		probably benign	Het
Ahcyl2	G	A	6: 29,890,721	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,774,003	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgef5	G	A	6: 43,275,104	D930N	probably benign	Het
Casc4	T	A	2: 121,906,044	S231T	probably benign	Het
Cc2d2a	G	A	5: 43,712,418	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,641,841	T236A	probably benign	Het
Chst15	A	T	7: 132,269,144	Y221N	probably damaging	Het
Chst15	G	A	7: 132,269,147	L220F	probably damaging	Het
Cntn2	G	A	1: 132,518,748	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,196,493	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905	D3894V	probably damaging	Het
E330017A01Rik	T	C	16: 58,636,793	I89V	probably benign	Het
Fam13b	T	C	18: 34,457,797	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,673,418	Q503L	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm21319	G	T	12: 87,773,431	D119E	probably benign	Het
Gm5454	T	A	13: 103,356,632		noncoding transcript	Het
Gm5581	A	G	6: 131,167,169		noncoding transcript	Het
Gm6619	A	G	6: 131,486,437	I6V	unknown	Het
Gmcl1	A	G	6: 86,714,248	M255T	probably damaging	Het
Gprc5c	T	A	11: 114,863,624	C42*	probably null	Het
Hmcn1	T	A	1: 150,737,524	E1384V	possibly damaging	Het
Il6	A	G	5: 30,018,008	I91V	probably benign	Het
Kmt2d	A	T	15: 98,862,363	S1005T	unknown	Het
Map1a	A	T	2: 121,298,910	H143L	possibly damaging	Het
Mical2	A	T	7: 112,323,659	T624S	probably benign	Het
Msh3	A	T	13: 92,286,000	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,340,895	I164N	possibly damaging	Het
Olfr1333	T	G	4: 118,830,099	T115P	probably damaging	Het
Olfr554	A	G	7: 102,640,378	N44S	probably damaging	Het
Olfr586	A	T	7: 103,121,908	M292K	possibly damaging	Het
Olfr926	A	G	9: 38,877,377	D67G	probably damaging	Het
Palmd	T	C	3: 116,918,623	I541M	probably benign	Het
Pcsk7	A	T	9: 45,926,033	M552L	probably benign	Het
Plekhh2	A	G	17: 84,571,726	E626G	possibly damaging	Het
Pole	G	A	5: 110,312,972	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,151,669	I110T	probably damaging	Het
Pomt1	A	T	2: 32,248,679	I436F	probably damaging	Het
Prag1	A	C	8: 36,103,703	Q480P	probably damaging	Het
Qars	C	T	9: 108,510,242		probably benign	Het
Ralgapa2	G	A	2: 146,333,486	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,128,603	T832A	probably damaging	Het
Rnf169	A	G	7: 99,925,769	S540P	probably benign	Het
Serpini1	T	A	3: 75,613,324	M76K	probably benign	Het
Shq1	A	G	6: 100,573,720	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,327,060	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,956,491	L716I	probably benign	Het
Smc1b	A	G	15: 85,067,783	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,324,234	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,965,980	G84W	probably damaging	Het
Ttn	G	A	2: 76,742,666	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,479,153	T337K	probably damaging	Het
Ubr4	A	G	4: 139,468,847	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,035,321	I328M	probably damaging	Het
Xcr1	C	T	9: 123,855,857	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,328,132	E895G	probably 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
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
R6872: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'- AGGATTGCCTAAATGCCTCC -3'
(R):5'- TTGAAAGGTCTTGAAAACTCGGG -3'

Sequencing Primer
(F):5'- CTTGAAGAATCTAATGACCTATGGGG -3'
(R):5'- GCAGGAGGCTTTTATTCTTGAACC -3'

Posted On

2016-12-20