Mutagenetix > Incidental Mutations

Incidental Mutation 'R5194:Acnat2'

399941

Institutional Source

Beutler Lab

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

MMRRC Submission

042770-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49380452 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 291 (Q291K)

Ref Sequence

ENSEMBL: ENSMUSP00000103326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081541] [ENSMUST00000107698] [ENSMUST00000125123]

Predicted Effect

probably benign
Transcript: ENSMUST00000081541
AA Change: Q309K

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

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: Q309K

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	15	144	6e-44	PFAM
low complexity region	149	173	N/A	INTRINSIC
Pfam:BAAT_C	206	415	2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107698
AA Change: Q291K

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

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: Q291K

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	14	145	9.8e-42	PFAM
Pfam:BAAT_C	188	397	6.6e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125123

SMART Domains

Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	14	145	2.4e-42	PFAM
low complexity region	149	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139564

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,250	N82D	probably benign	Het
Acadm	C	T	3: 153,933,118	R206H	possibly damaging	Het
Acly	T	A	11: 100,523,546	Y18F	probably benign	Het
Agtpbp1	T	C	13: 59,500,639	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,077	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,204,907	L307I	probably benign	Het
Arhgef2	A	T	3: 88,635,649	I383F	probably damaging	Het
Cbs	C	T	17: 31,624,224		probably null	Het
Cep135	T	C	5: 76,615,777	V538A	probably benign	Het
D11Wsu47e	T	C	11: 113,688,828	S350P	possibly damaging	Het
Dennd5a	T	C	7: 109,933,729	E254G	probably damaging	Het
Drc7	T	C	8: 95,061,717	V236A	probably benign	Het
Dtna	C	T	18: 23,590,245	Q169*	probably null	Het
Egfem1	G	A	3: 29,357,196		probably null	Het
Eif2ak3	T	C	6: 70,858,478	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,082,355	N297S	unknown	Het
F13a1	T	G	13: 36,972,063	D192A	probably damaging	Het
Fam120a	A	G	13: 48,880,935	V1067A	probably benign	Het
Gm13124	A	G	4: 144,555,082	V380A	probably benign	Het
Gm17490	T	C	2: 11,626,251	Y5C	unknown	Het
Gm8587	C	T	12: 88,089,786		noncoding transcript	Het
H2-Ab1	C	T	17: 34,269,378		probably benign	Het
Hoxd12	T	C	2: 74,675,103	L6P	probably damaging	Het
Ifi204	C	T	1: 173,749,344	D564N	possibly damaging	Het
Irak2	T	C	6: 113,690,790	V444A	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrba	A	C	3: 86,328,219	N877H	probably damaging	Het
Mylk3	T	C	8: 85,352,866	I388V	probably benign	Het
Myo9b	C	T	8: 71,349,089	A1286V	probably benign	Het
Myt1l	A	C	12: 29,811,648	D143A	unknown	Het
Ngfr	T	C	11: 95,580,982	N63S	probably benign	Het
Olfr1264	T	A	2: 90,021,526	Y180F	probably damaging	Het
Olfr1347	A	G	7: 6,488,520	L118P	probably damaging	Het
Olfr576	A	G	7: 102,965,864	I255V	probably benign	Het
Olfr698	A	T	7: 106,753,219	H56Q	probably benign	Het
Olfr814	C	T	10: 129,874,098	V220I	probably benign	Het
P2rx7	T	C	5: 122,673,795	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,687,741	Q781P	probably benign	Het
Phip	G	A	9: 82,908,862	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,586,789	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,417,337	M1K	probably null	Het
Schip1	T	C	3: 68,494,872	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,903,101	K83E	probably damaging	Het
Sipa1l2	T	C	8: 125,439,273	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,979,847	Y4C	probably damaging	Het
Smco1	C	T	16: 32,273,774	H88Y	probably damaging	Het
Tll2	T	C	19: 41,095,897	D697G	probably damaging	Het
Trim34a	A	G	7: 104,260,993	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,199,033	I64T	probably benign	Het
Vstm2b	T	A	7: 40,902,488		probably null	Het
Wdr17	A	G	8: 54,687,604	F238L	probably damaging	Het
Wiz	T	C	17: 32,377,848		probably benign	Het
Zfp407	T	C	18: 84,561,309	S560G	probably benign	Het

Other mutations in Acnat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Acnat2	APN	4	49383250	missense	probably damaging	1.00
IGL01321:Acnat2	APN	4	49380269	missense	probably damaging	0.99
IGL01891:Acnat2	APN	4	49383395	missense	probably benign	0.00
IGL01993:Acnat2	APN	4	49380131	missense	probably benign	0.00
IGL02517:Acnat2	APN	4	49380639	nonsense	probably null
IGL02517:Acnat2	APN	4	49380647	missense	possibly damaging	0.79
IGL03249:Acnat2	APN	4	49381787	missense	probably benign	0.00
PIT4494001:Acnat2	UTSW	4	49383133	missense	probably benign	0.16
R0050:Acnat2	UTSW	4	49380586	missense	probably benign	0.03
R0462:Acnat2	UTSW	4	49383084	critical splice donor site	probably null
R0482:Acnat2	UTSW	4	49383534	missense	probably benign	0.09
R0590:Acnat2	UTSW	4	49383273	missense	probably benign	0.00
R0616:Acnat2	UTSW	4	49380269	missense	probably damaging	0.99
R1099:Acnat2	UTSW	4	49380484	missense	probably benign	0.01
R1678:Acnat2	UTSW	4	49380568	missense	probably damaging	0.98
R1710:Acnat2	UTSW	4	49380587	missense	probably benign	0.16
R2190:Acnat2	UTSW	4	49383551	start codon destroyed	probably benign
R4863:Acnat2	UTSW	4	49380172	missense	probably damaging	1.00
R5031:Acnat2	UTSW	4	49380631	missense	probably damaging	1.00
R5936:Acnat2	UTSW	4	49383362	missense	probably benign	0.00
R6451:Acnat2	UTSW	4	49380262	missense	probably benign	0.00
R6526:Acnat2	UTSW	4	49383497	missense	probably benign	0.00
R6759:Acnat2	UTSW	4	49380254	missense	probably benign	0.01
R7180:Acnat2	UTSW	4	49381803	nonsense	probably null
R7356:Acnat2	UTSW	4	49383507	missense	probably damaging	1.00
R7879:Acnat2	UTSW	4	49383299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAAAACACATGGGTTGAC -3'
(R):5'- GCCACAGTCTGCATAAATGGG -3'

Sequencing Primer
(F):5'- AATAAGGTGGCTCTATGAGGTGGC -3'
(R):5'- GTCTGCATAAATGGGCCCAC -3'

Posted On

2016-07-06