Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Aadacl4'

375048

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

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

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144613707-144623398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144613845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 47 (H47N)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094510
AA Change: H47N

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: H47N

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

0.5615

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	T	8: 95,035,086 (GRCm38)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845 (GRCm38)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244 (GRCm38)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691 (GRCm38)	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064 (GRCm38)	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956 (GRCm38)	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083 (GRCm38)	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710 (GRCm38)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476 (GRCm38)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034 (GRCm38)		probably benign	Het
Efemp2	A	T	19: 5,480,761 (GRCm38)		probably benign	Het
Emilin1	A	G	5: 30,917,066 (GRCm38)	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771 (GRCm38)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572 (GRCm38)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166 (GRCm38)		probably null	Het
Fbln2	T	C	6: 91,256,995 (GRCm38)		probably null	Het
Gga3	A	T	11: 115,591,321 (GRCm38)	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,107,311 (GRCm38)		probably benign	Het
Hps4	T	C	5: 112,375,368 (GRCm38)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947 (GRCm38)	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154 (GRCm38)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003 (GRCm38)	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490 (GRCm38)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640 (GRCm38)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,617,891 (GRCm38)		probably benign	Het
Met	A	G	6: 17,549,059 (GRCm38)	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387 (GRCm38)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm38)	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456 (GRCm38)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430 (GRCm38)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004 (GRCm38)	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394 (GRCm38)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333 (GRCm38)	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085 (GRCm38)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418 (GRCm38)	C859S	probably benign	Het
Or1d2	T	C	11: 74,364,848 (GRCm38)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,335,627 (GRCm38)	F157V	probably benign	Het
Or5m3b	A	G	2: 86,041,455 (GRCm38)	I47V	probably benign	Het
Otud7b	T	A	3: 96,136,510 (GRCm38)		probably benign	Het
Pde1a	A	T	2: 79,878,139 (GRCm38)	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981 (GRCm38)	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054 (GRCm38)	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740 (GRCm38)		probably null	Het
Rabac1	T	A	7: 24,969,967 (GRCm38)	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492 (GRCm38)		probably benign	Het
Rbm48	A	T	5: 3,591,853 (GRCm38)		probably benign	Het
Rft1	C	T	14: 30,677,804 (GRCm38)	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479 (GRCm38)	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453 (GRCm38)	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211 (GRCm38)	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654 (GRCm38)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675 (GRCm38)	R308C	probably benign	Het
Smo	A	G	6: 29,753,571 (GRCm38)	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085 (GRCm38)	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555 (GRCm38)		probably null	Het
Tnk2	A	G	16: 32,679,630 (GRCm38)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564 (GRCm38)	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758 (GRCm38)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm38)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205 (GRCm38)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800 (GRCm38)	G184*	probably null	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
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
R5916:Aadacl4	UTSW	4	144,622,980 (GRCm38)	missense	possibly damaging	0.93
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'- CAGGACCTCAGATAGCAGTTTCT -3'
(R):5'- CAACTACTTCAACATCATGAGACACT -3'

Sequencing Primer
(F):5'- CCTCAGATAGCAGTTTCTCAGAGG -3'
(R):5'- AACAGGAGCCTCAGGTCATTTCTG -3'

Posted On

2016-03-17