Mutagenetix > Incidental Mutation

Incidental Mutation 'R8549:Aadacl4'

659771

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

068514-MU

Accession Numbers

Essential gene?

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

Stock #

R8549 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144340277-144349968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144349726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 328 (V328I)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

probably benign
Transcript: ENSMUST00000094510
AA Change: V328I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: V328I

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,681,061 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,052,818 (GRCm39)	H968L	probably benign	Het
Ahnak	G	A	19: 8,988,847 (GRCm39)	G3377E	probably damaging	Het
Ank3	A	G	10: 69,818,012 (GRCm39)	T56A	possibly damaging	Het
Anpep	A	G	7: 79,490,644 (GRCm39)	S291P	probably benign	Het
Arap3	G	A	18: 38,106,365 (GRCm39)	P1493S	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C1rb	T	C	6: 124,551,498 (GRCm39)	Y203H	probably benign	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Chrd	A	G	16: 20,560,027 (GRCm39)	E898G	probably benign	Het
Cobll1	T	C	2: 64,928,794 (GRCm39)	D881G	probably damaging	Het
Cyp39a1	T	A	17: 44,041,886 (GRCm39)	D364E	possibly damaging	Het
Defb33	G	A	8: 21,387,594 (GRCm39)	G44R	probably damaging	Het
Efcab3	A	T	11: 104,890,521 (GRCm39)	E4201V	probably damaging	Het
Ehhadh	A	T	16: 21,585,168 (GRCm39)	S238T	probably benign	Het
Eif5b	G	A	1: 38,076,288 (GRCm39)	R612Q	possibly damaging	Het
Eps8l1	G	T	7: 4,473,853 (GRCm39)	R220L	probably damaging	Het
Frmd8	A	G	19: 5,919,565 (GRCm39)	Y161H	possibly damaging	Het
Gad2	T	A	2: 22,525,059 (GRCm39)		probably null	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gm5460	T	C	14: 33,758,892 (GRCm39)	F184L	possibly damaging	Het
Grip2	C	A	6: 91,750,769 (GRCm39)		probably null	Het
Hrh4	T	C	18: 13,155,115 (GRCm39)	F218S	possibly damaging	Het
Ippk	T	C	13: 49,615,177 (GRCm39)	V520A	probably benign	Het
Kif15	T	A	9: 122,815,236 (GRCm39)	Y189N	probably benign	Het
Kif9	T	G	9: 110,343,487 (GRCm39)		probably null	Het
L1td1	T	C	4: 98,626,280 (GRCm39)	F825S	probably damaging	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Nalcn	T	C	14: 123,607,448 (GRCm39)	T674A	probably benign	Het
Nbeal1	G	A	1: 60,274,721 (GRCm39)		probably null	Het
Nip7	C	A	8: 107,784,605 (GRCm39)		probably null	Het
Npc1l1	A	G	11: 6,168,675 (GRCm39)	F902S	probably damaging	Het
Or4k48	C	T	2: 111,479,512 (GRCm39)		probably benign	Het
Pcdha6	T	G	18: 37,101,594 (GRCm39)	I262M	possibly damaging	Het
Pcdhga1	T	A	18: 37,966,386 (GRCm39)	*56R	probably null	Het
Plcb1	A	G	2: 135,206,853 (GRCm39)	Y959C	probably benign	Het
Rnase9	T	A	14: 51,276,448 (GRCm39)	I177L	probably benign	Het
Rtn3	T	C	19: 7,434,624 (GRCm39)	N437S	probably benign	Het
Rufy3	T	A	5: 88,795,073 (GRCm39)		probably null	Het
Snx29	T	C	16: 11,532,920 (GRCm39)		probably null	Het
Szt2	C	A	4: 118,229,878 (GRCm39)	R2751L	unknown	Het
Tagap	A	G	17: 8,152,797 (GRCm39)	T661A	probably benign	Het
Tcp10b	T	A	17: 13,281,915 (GRCm39)	I95K	probably benign	Het
Topbp1	T	C	9: 103,201,577 (GRCm39)	F637L	probably damaging	Het
Yju2b	A	T	8: 84,985,399 (GRCm39)	V290E	probably benign	Het
Zfp41	C	T	15: 75,490,540 (GRCm39)	T164M	probably benign	Het
Zfp707	T	A	15: 75,846,547 (GRCm39)	I126N	probably benign	Het
Zfp957	T	C	14: 79,451,346 (GRCm39)	E151G	probably damaging	Het

Other mutations in Aadacl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Aadacl4	APN	4	144,344,392 (GRCm39)	critical splice acceptor site	probably null
IGL02836:Aadacl4	APN	4	144,349,782 (GRCm39)	missense	possibly damaging	0.79
IGL02949:Aadacl4	APN	4	144,344,490 (GRCm39)	missense	probably damaging	1.00
IGL03253:Aadacl4	APN	4	144,349,858 (GRCm39)	missense	probably benign	0.05
white_rabbit	UTSW	4	144,344,598 (GRCm39)	missense	probably benign	0.03
R0035:Aadacl4	UTSW	4	144,344,511 (GRCm39)	missense	probably damaging	0.98
R0268:Aadacl4	UTSW	4	144,349,565 (GRCm39)	missense	probably benign	0.00
R1427:Aadacl4	UTSW	4	144,349,610 (GRCm39)	missense	probably damaging	1.00
R1672:Aadacl4	UTSW	4	144,349,889 (GRCm39)	nonsense	probably null
R2220:Aadacl4	UTSW	4	144,344,572 (GRCm39)	missense	probably damaging	0.98
R2353:Aadacl4	UTSW	4	144,349,779 (GRCm39)	missense	probably damaging	1.00
R2983:Aadacl4	UTSW	4	144,349,784 (GRCm39)	missense	probably damaging	0.98
R4708:Aadacl4	UTSW	4	144,349,899 (GRCm39)	missense	probably benign	0.01
R4878:Aadacl4	UTSW	4	144,340,415 (GRCm39)	missense	possibly damaging	0.62
R4911:Aadacl4	UTSW	4	144,340,362 (GRCm39)	missense	probably damaging	1.00
R5208:Aadacl4	UTSW	4	144,344,398 (GRCm39)	missense	probably benign	0.04
R5237:Aadacl4	UTSW	4	144,349,850 (GRCm39)	nonsense	probably null
R5568:Aadacl4	UTSW	4	144,349,364 (GRCm39)	missense	probably benign	0.03
R5633:Aadacl4	UTSW	4	144,344,598 (GRCm39)	missense	probably benign	0.03
R5817:Aadacl4	UTSW	4	144,349,497 (GRCm39)	missense	probably benign	0.04
R5848:Aadacl4	UTSW	4	144,344,428 (GRCm39)	missense	probably benign	0.11
R5916:Aadacl4	UTSW	4	144,349,550 (GRCm39)	missense	possibly damaging	0.93
R6736:Aadacl4	UTSW	4	144,349,909 (GRCm39)	missense	possibly damaging	0.82
R6814:Aadacl4	UTSW	4	144,349,750 (GRCm39)	missense	probably benign	0.07
R6872:Aadacl4	UTSW	4	144,349,750 (GRCm39)	missense	probably benign	0.07
R6971:Aadacl4	UTSW	4	144,349,303 (GRCm39)	missense	probably damaging	1.00
R6994:Aadacl4	UTSW	4	144,349,849 (GRCm39)	missense	probably damaging	1.00
R7074:Aadacl4	UTSW	4	144,340,433 (GRCm39)	missense	probably benign
R7353:Aadacl4	UTSW	4	144,344,490 (GRCm39)	missense	probably damaging	1.00
R7837:Aadacl4	UTSW	4	144,344,547 (GRCm39)	missense	probably damaging	1.00
R7853:Aadacl4	UTSW	4	144,344,592 (GRCm39)	missense	probably benign	0.02
R8120:Aadacl4	UTSW	4	144,349,460 (GRCm39)	missense	probably benign	0.44
R9043:Aadacl4	UTSW	4	144,349,790 (GRCm39)	missense	probably damaging	1.00
R9661:Aadacl4	UTSW	4	144,340,287 (GRCm39)	missense	probably damaging	0.96
X0017:Aadacl4	UTSW	4	144,349,586 (GRCm39)	missense	probably damaging	1.00
X0065:Aadacl4	UTSW	4	144,349,679 (GRCm39)	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2021-01-18