Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Aadacl4'

461318

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144613707-144623398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144622980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 269 (N269I)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094510
AA Change: N269I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: N269I

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,578 (GRCm38)	T374I	probably damaging	Het
4930563D23Rik	T	A	16: 92,320,671 (GRCm38)	E243V	probably damaging	Het
Abcc1	G	T	16: 14,465,142 (GRCm38)	V1161F	possibly damaging	Het
Adam3	A	T	8: 24,684,539 (GRCm38)		probably null	Het
Agt	A	T	8: 124,563,858 (GRCm38)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,681,836 (GRCm38)	F674L	probably benign	Het
Asb2	G	T	12: 103,323,876 (GRCm38)	A504E	probably damaging	Het
Atp13a1	T	A	8: 69,807,098 (GRCm38)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,205,662 (GRCm38)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm38)	T95A	probably benign	Het
Ccdc173	A	T	2: 69,789,462 (GRCm38)	M1K	probably null	Het
Clrn1	T	C	3: 58,846,362 (GRCm38)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,504,122 (GRCm38)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,759,166 (GRCm38)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,706,918 (GRCm38)	I233N	possibly damaging	Het
Dsc3	T	C	18: 19,987,020 (GRCm38)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm38)		probably null	Het
Erich3	A	T	3: 154,695,823 (GRCm38)	R36S	probably damaging	Het
Fmnl3	A	T	15: 99,321,828 (GRCm38)	C680S	probably damaging	Het
Focad	T	C	4: 88,357,541 (GRCm38)	L1129P	unknown	Het
Fzd3	G	A	14: 65,202,729 (GRCm38)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,854,736 (GRCm38)	I129V	probably benign	Het
Heatr1	T	C	13: 12,434,471 (GRCm38)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,646,203 (GRCm38)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,396,139 (GRCm38)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,470,123 (GRCm38)	C612S	probably damaging	Het
Il1f9	T	G	2: 24,192,794 (GRCm38)	*194E	probably null	Het
Junb	T	C	8: 84,977,876 (GRCm38)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,221,382 (GRCm38)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,937,800 (GRCm38)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,451,178 (GRCm38)	T68S	probably benign	Het
March1	G	T	8: 66,387,111 (GRCm38)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,249,425 (GRCm38)		probably null	Het
Mga	T	A	2: 119,964,312 (GRCm38)	S2708T	probably benign	Het
Mx1	T	C	16: 97,451,733 (GRCm38)	T396A	probably benign	Het
Naip5	A	C	13: 100,222,701 (GRCm38)	S676A	probably benign	Het
Npepl1	G	T	2: 174,121,544 (GRCm38)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,808,729 (GRCm38)	M1V	probably null	Het
Nufip1	T	C	14: 76,134,900 (GRCm38)	*485Q	probably null	Het
Ocln	T	G	13: 100,506,179 (GRCm38)	D216A	possibly damaging	Het
Olfr108	C	T	17: 37,445,679 (GRCm38)	L53F	probably benign	Het
Olfr1308	A	G	2: 111,960,830 (GRCm38)	M81T	probably damaging	Het
Olfr417	A	T	1: 174,369,132 (GRCm38)	T72S	probably damaging	Het
Olfr544	G	A	7: 102,484,379 (GRCm38)	S247F	probably damaging	Het
Papd4	T	C	13: 93,175,547 (GRCm38)	D215G	probably damaging	Het
Ptprq	A	T	10: 107,523,513 (GRCm38)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,325,082 (GRCm38)	Q190*	probably null	Het
Rfx8	T	C	1: 39,688,619 (GRCm38)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,913 (GRCm38)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,831,724 (GRCm38)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,573 (GRCm38)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,933,221 (GRCm38)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,214,608 (GRCm38)	K12E	possibly damaging	Het
Tmcc2	C	T	1: 132,357,691 (GRCm38)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,749,380 (GRCm38)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,691,514 (GRCm38)	L732P	probably damaging	Het
U2af2	A	T	7: 5,079,180 (GRCm38)		probably null	Het
Utrn	T	A	10: 12,665,051 (GRCm38)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,358,037 (GRCm38)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,205,302 (GRCm38)	M3K	possibly damaging	Het
Zscan29	G	T	2: 121,164,037 (GRCm38)	T489N	probably damaging	Het

Other mutations in Aadacl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Aadacl4	APN	4	144,617,822 (GRCm38)	critical splice acceptor site	probably null
IGL02836:Aadacl4	APN	4	144,623,212 (GRCm38)	missense	possibly damaging	0.79
IGL02949:Aadacl4	APN	4	144,617,920 (GRCm38)	missense	probably damaging	1.00
IGL03253:Aadacl4	APN	4	144,623,288 (GRCm38)	missense	probably benign	0.05
white_rabbit	UTSW	4	144,618,028 (GRCm38)	missense	probably benign	0.03
R0035:Aadacl4	UTSW	4	144,617,941 (GRCm38)	missense	probably damaging	0.98
R0268:Aadacl4	UTSW	4	144,622,995 (GRCm38)	missense	probably benign	0.00
R1427:Aadacl4	UTSW	4	144,623,040 (GRCm38)	missense	probably damaging	1.00
R1672:Aadacl4	UTSW	4	144,623,319 (GRCm38)	nonsense	probably null
R2220:Aadacl4	UTSW	4	144,618,002 (GRCm38)	missense	probably damaging	0.98
R2353:Aadacl4	UTSW	4	144,623,209 (GRCm38)	missense	probably damaging	1.00
R2983:Aadacl4	UTSW	4	144,623,214 (GRCm38)	missense	probably damaging	0.98
R4708:Aadacl4	UTSW	4	144,623,329 (GRCm38)	missense	probably benign	0.01
R4878:Aadacl4	UTSW	4	144,613,845 (GRCm38)	missense	possibly damaging	0.62
R4911:Aadacl4	UTSW	4	144,613,792 (GRCm38)	missense	probably damaging	1.00
R5208:Aadacl4	UTSW	4	144,617,828 (GRCm38)	missense	probably benign	0.04
R5237:Aadacl4	UTSW	4	144,623,280 (GRCm38)	nonsense	probably null
R5568:Aadacl4	UTSW	4	144,622,794 (GRCm38)	missense	probably benign	0.03
R5633:Aadacl4	UTSW	4	144,618,028 (GRCm38)	missense	probably benign	0.03
R5817:Aadacl4	UTSW	4	144,622,927 (GRCm38)	missense	probably benign	0.04
R5848:Aadacl4	UTSW	4	144,617,858 (GRCm38)	missense	probably benign	0.11
R6736:Aadacl4	UTSW	4	144,623,339 (GRCm38)	missense	possibly damaging	0.82
R6814:Aadacl4	UTSW	4	144,623,180 (GRCm38)	missense	probably benign	0.07
R6872:Aadacl4	UTSW	4	144,623,180 (GRCm38)	missense	probably benign	0.07
R6971:Aadacl4	UTSW	4	144,622,733 (GRCm38)	missense	probably damaging	1.00
R6994:Aadacl4	UTSW	4	144,623,279 (GRCm38)	missense	probably damaging	1.00
R7074:Aadacl4	UTSW	4	144,613,863 (GRCm38)	missense	probably benign
R7353:Aadacl4	UTSW	4	144,617,920 (GRCm38)	missense	probably damaging	1.00
R7837:Aadacl4	UTSW	4	144,617,977 (GRCm38)	missense	probably damaging	1.00
R7853:Aadacl4	UTSW	4	144,618,022 (GRCm38)	missense	probably benign	0.02
R8120:Aadacl4	UTSW	4	144,622,890 (GRCm38)	missense	probably benign	0.44
R8549:Aadacl4	UTSW	4	144,623,156 (GRCm38)	missense	probably benign
R9043:Aadacl4	UTSW	4	144,623,220 (GRCm38)	missense	probably damaging	1.00
R9661:Aadacl4	UTSW	4	144,613,717 (GRCm38)	missense	probably damaging	0.96
X0017:Aadacl4	UTSW	4	144,623,016 (GRCm38)	missense	probably damaging	1.00
X0065:Aadacl4	UTSW	4	144,623,109 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATTGGTCAGCTTCCCAAGTC -3'
(R):5'- CTTCTGGAACCTGAGCAATGATC -3'

Sequencing Primer
(F):5'- AAGTCTCCCCCACATCCGTG -3'
(R):5'- CTGGAACCTGAGCAATGATCTTGTC -3'

Posted On

2017-02-28