Mutagenetix > Incidental Mutation

Incidental Mutation 'R6971:Aadacl4'

542240

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4

Ensembl Gene

ENSMUSG00000070609

Gene Name

arylacetamide deacetylase like 4

Synonyms

Gm13177

MMRRC Submission

045081-MU

Accession Numbers

Essential gene?

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

Stock #

R6971 (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 144349303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 187 (V187M)

Ref Sequence

ENSEMBL: ENSMUSP00000092087 (fasta)

Gene Model

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

AlphaFold

B1AVU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094510
AA Change: V187M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: V187M

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,903 (GRCm39)	T32S	possibly damaging	Het
2210408I21Rik	A	G	13: 77,341,306 (GRCm39)	S52G	possibly damaging	Het
Adprhl1	T	A	8: 13,273,476 (GRCm39)	Q1094L	probably benign	Het
Amigo1	C	T	3: 108,095,452 (GRCm39)	S317L	probably benign	Het
Brca1	A	G	11: 101,424,831 (GRCm39)	F32L	probably benign	Het
C1qtnf7	T	A	5: 43,766,392 (GRCm39)		probably null	Het
Ccdc88c	A	T	12: 100,920,486 (GRCm39)	D378E	probably damaging	Het
Ccdc97	G	T	7: 25,414,384 (GRCm39)	Y123*	probably null	Het
Cdk10	T	A	8: 123,954,413 (GRCm39)	M46K	probably damaging	Het
Dsc3	A	G	18: 20,099,275 (GRCm39)		probably null	Het
Ephx3	T	A	17: 32,407,177 (GRCm39)	N254Y	possibly damaging	Het
Fnip2	G	A	3: 79,388,428 (GRCm39)	R768*	probably null	Het
Glra1	A	T	11: 55,427,325 (GRCm39)	Y3*	probably null	Het
Gltpd2	A	G	11: 70,411,290 (GRCm39)	T194A	probably damaging	Het
Hectd1	A	T	12: 51,795,526 (GRCm39)	L2301*	probably null	Het
Hmcn1	T	A	1: 150,868,802 (GRCm39)	M1L	probably benign	Het
Hmcn2	G	A	2: 31,322,333 (GRCm39)	E4133K	probably benign	Het
Hps3	A	T	3: 20,065,699 (GRCm39)	L714I	probably damaging	Het
Igfbpl1	A	G	4: 45,816,333 (GRCm39)	V164A	possibly damaging	Het
Ip6k2	T	C	9: 108,674,510 (GRCm39)		probably benign	Het
Itgb8	A	T	12: 119,154,366 (GRCm39)	Y224N	probably damaging	Het
Kcnt2	T	C	1: 140,440,646 (GRCm39)	L624S	probably benign	Het
Mdga2	A	G	12: 66,597,335 (GRCm39)	Y720H	probably damaging	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Msl2	T	C	9: 100,978,042 (GRCm39)	F139L	probably benign	Het
Nuggc	T	C	14: 65,846,305 (GRCm39)	V72A	probably benign	Het
Or9k2b	A	T	10: 130,016,638 (GRCm39)	V37E	possibly damaging	Het
Pde2a	T	A	7: 101,159,520 (GRCm39)	Y783*	probably null	Het
Pfkfb2	A	G	1: 130,628,533 (GRCm39)	Y358H	probably damaging	Het
Pou2f1	A	G	1: 165,759,258 (GRCm39)	S23P	probably damaging	Het
Prrc2a	T	C	17: 35,378,477 (GRCm39)		probably null	Het
Prss36	T	C	7: 127,544,410 (GRCm39)	T92A	probably benign	Het
Rnft2	A	G	5: 118,332,635 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,895,868 (GRCm39)	V971A	possibly damaging	Het
Sec63	A	G	10: 42,659,438 (GRCm39)	E42G	probably damaging	Het
Setdb2	A	T	14: 59,653,189 (GRCm39)	L371Q	probably damaging	Het
Shprh	A	T	10: 11,042,437 (GRCm39)	I807F	probably damaging	Het
Slc3a2	T	C	19: 8,686,974 (GRCm39)		probably null	Het
Srbd1	T	C	17: 86,406,718 (GRCm39)	I556V	possibly damaging	Het
Stim2	T	A	5: 54,275,641 (GRCm39)	C605*	probably null	Het
Tecrl	T	C	5: 83,502,649 (GRCm39)	T67A	possibly damaging	Het
Ttc33	C	A	15: 5,241,523 (GRCm39)	A116E	probably damaging	Het
Ttn	G	A	2: 76,772,393 (GRCm39)	T2503I	possibly damaging	Het
Ubp1	T	C	9: 113,801,831 (GRCm39)	I468T	probably damaging	Het
Urgcp	A	T	11: 5,668,115 (GRCm39)	H74Q	probably benign	Het
Vcan	A	G	13: 89,826,252 (GRCm39)	I2224T	probably damaging	Het
Vmn1r8	T	A	6: 57,013,400 (GRCm39)	N150K	probably damaging	Het
Vmn2r3	A	G	3: 64,166,668 (GRCm39)	M821T	probably damaging	Het
Zfp777	C	A	6: 48,001,625 (GRCm39)	A866S	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
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'- GGATGTTGTTCAAATGGCCTC -3'
(R):5'- CAATGTCCAGATATTTACACACAGC -3'

Sequencing Primer
(F):5'- TGGCCTCCAATGATACATGTG -3'
(R):5'- GTCCAGATATTTACACACAGCTATTG -3'

Posted On

2018-11-28