Mutagenetix > Incidental Mutation

Incidental Mutation 'R5633:Aadacl4'

439969

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

043284-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144340277-144349968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144344598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 125 (C125S)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

probably benign
Transcript: ENSMUST00000094510
AA Change: C125S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: C125S

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,608,107 (GRCm39)	L382P	probably damaging	Het
Acot3	A	G	12: 84,105,724 (GRCm39)		probably null	Het
Acsl6	A	T	11: 54,228,015 (GRCm39)	Q345L	probably benign	Het
Adcy8	A	G	15: 64,571,134 (GRCm39)	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,457,022 (GRCm39)	D182A	probably damaging	Het
B3galt5	A	T	16: 96,116,709 (GRCm39)	H114L	probably benign	Het
Bcas2	T	A	3: 103,085,740 (GRCm39)	Y207*	probably null	Het
Best1	A	G	19: 9,969,467 (GRCm39)	L197P	probably benign	Het
Chil6	C	A	3: 106,296,068 (GRCm39)	C389F	probably damaging	Het
Chrna4	T	C	2: 180,671,253 (GRCm39)	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,194,110 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,160 (GRCm39)	L441P	probably damaging	Het
Dmtn	T	C	14: 70,842,419 (GRCm39)	M365V	probably benign	Het
Dmxl1	T	A	18: 50,010,764 (GRCm39)	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,156,626 (GRCm39)	D150G	probably benign	Het
Eef2k	C	A	7: 120,472,513 (GRCm39)		probably benign	Het
Elp2	T	A	18: 24,748,267 (GRCm39)	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,241 (GRCm39)		probably null	Het
Gm11559	C	A	11: 99,755,412 (GRCm39)	C20*	probably null	Het
Gnb2	T	C	5: 137,527,454 (GRCm39)	I213V	probably benign	Het
Gnb5	C	T	9: 75,251,796 (GRCm39)	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257 (GRCm39)	I303N	possibly damaging	Het
Idh1	A	G	1: 65,204,295 (GRCm39)	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,578,256 (GRCm39)	Q273*	probably null	Het
Itpkb	A	T	1: 180,154,790 (GRCm39)	⇒1	probably benign	Het
Kntc1	C	T	5: 123,957,120 (GRCm39)	T2143I	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,787,943 (GRCm39)	D464E	possibly damaging	Het
Med13	A	G	11: 86,169,757 (GRCm39)		probably benign	Het
Mn1	T	C	5: 111,568,192 (GRCm39)	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,775,467 (GRCm39)	L1026Q	possibly damaging	Het
Or6c204	A	T	10: 129,022,718 (GRCm39)	F191I	probably benign	Het
P4htm	A	C	9: 108,456,922 (GRCm39)	D428E	probably damaging	Het
Parp8	C	T	13: 117,013,116 (GRCm39)	R602H	probably damaging	Het
Pkd2	T	A	5: 104,646,372 (GRCm39)	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,746,500 (GRCm39)	I359T	probably benign	Het
Rassf6	T	C	5: 90,751,977 (GRCm39)	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,450,915 (GRCm39)	I413T	probably damaging	Het
Rpn2	T	A	2: 157,125,516 (GRCm39)	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,064,390 (GRCm39)	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,774,325 (GRCm39)	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,260,087 (GRCm39)	P163Q	probably damaging	Het
Smc4	T	A	3: 68,915,443 (GRCm39)	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455 (GRCm39)	I439K	probably benign	Het
Syt9	C	T	7: 107,024,503 (GRCm39)	T132I	probably damaging	Het
Timd6	C	T	11: 46,465,433 (GRCm39)	S9L	unknown	Het
Trpm2	T	C	10: 77,774,187 (GRCm39)	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,361 (GRCm39)	M358T	probably benign	Het
Vmn1r91	A	T	7: 19,835,870 (GRCm39)	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,579,169 (GRCm39)	D648G	probably benign	Het
Zpbp2	T	C	11: 98,445,584 (GRCm39)	I150T	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
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
R8549:Aadacl4	UTSW	4	144,349,726 (GRCm39)	missense	probably benign
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'- CAATGCTAAGTGGCTGCAGC -3'
(R):5'- CCATGGAGGCTTCAATATCATTG -3'

Sequencing Primer
(F):5'- TAAGTGGCTGCAGCATCTAC -3'
(R):5'- TGAGTGATATGATTTCAAAGCTGTC -3'

Posted On

2016-11-08