Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49380452 bp (GRCm39)

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]

AlphaFold

Q8BGG9

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: 48,348,059 (GRCm39)	N82D	probably benign	Het
Aadacl4fm2	A	G	4: 144,281,652 (GRCm39)	V380A	probably benign	Het
Acadm	C	T	3: 153,638,755 (GRCm39)	R206H	possibly damaging	Het
Acly	T	A	11: 100,414,372 (GRCm39)	Y18F	probably benign	Het
Agtpbp1	T	C	13: 59,648,453 (GRCm39)	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,076 (GRCm39)	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,275,132 (GRCm39)	L307I	probably benign	Het
Arhgef2	A	T	3: 88,542,956 (GRCm39)	I383F	probably damaging	Het
Cbs	C	T	17: 31,843,198 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,763,624 (GRCm39)	V538A	probably benign	Het
Dennd5a	T	C	7: 109,532,936 (GRCm39)	E254G	probably damaging	Het
Drc7	T	C	8: 95,788,345 (GRCm39)	V236A	probably benign	Het
Dtna	C	T	18: 23,723,302 (GRCm39)	Q169*	probably null	Het
Egfem1	G	A	3: 29,411,345 (GRCm39)		probably null	Het
Eif2ak3	T	C	6: 70,835,462 (GRCm39)	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,032,355 (GRCm39)	N297S	unknown	Het
F13a1	T	G	13: 37,156,037 (GRCm39)	D192A	probably damaging	Het
Fam120a	A	G	13: 49,034,411 (GRCm39)	V1067A	probably benign	Het
Gm17490	T	C	2: 11,631,062 (GRCm39)	Y5C	unknown	Het
Gm57859	T	C	11: 113,579,654 (GRCm39)	S350P	possibly damaging	Het
Gm8587	C	T	12: 88,056,556 (GRCm39)		noncoding transcript	Het
H2-Ab1	C	T	17: 34,488,352 (GRCm39)		probably benign	Het
Hoxd12	T	C	2: 74,505,447 (GRCm39)	L6P	probably damaging	Het
Ifi204	C	T	1: 173,576,910 (GRCm39)	D564N	possibly damaging	Het
Irak2	T	C	6: 113,667,751 (GRCm39)	V444A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrba	A	C	3: 86,235,526 (GRCm39)	N877H	probably damaging	Het
Mylk3	T	C	8: 86,079,495 (GRCm39)	I388V	probably benign	Het
Myo9b	C	T	8: 71,801,733 (GRCm39)	A1286V	probably benign	Het
Myt1l	A	C	12: 29,861,647 (GRCm39)	D143A	unknown	Het
Ngfr	T	C	11: 95,471,808 (GRCm39)	N63S	probably benign	Het
Or2ag16	A	T	7: 106,352,426 (GRCm39)	H56Q	probably benign	Het
Or4c3	T	A	2: 89,851,870 (GRCm39)	Y180F	probably damaging	Het
Or51a7	A	G	7: 102,615,071 (GRCm39)	I255V	probably benign	Het
Or6c70	C	T	10: 129,709,967 (GRCm39)	V220I	probably benign	Het
Or6z6	A	G	7: 6,491,519 (GRCm39)	L118P	probably damaging	Het
P2rx7	T	C	5: 122,811,858 (GRCm39)	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,820,794 (GRCm39)	Q781P	probably benign	Het
Phip	G	A	9: 82,790,915 (GRCm39)	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,740,265 (GRCm39)	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381 (GRCm39)	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,464,111 (GRCm39)	M1K	probably null	Het
Schip1	T	C	3: 68,402,205 (GRCm39)	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663 (GRCm39)	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,787,301 (GRCm39)	K83E	probably damaging	Het
Sipa1l2	T	C	8: 126,166,012 (GRCm39)	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,870,673 (GRCm39)	Y4C	probably damaging	Het
Smco1	C	T	16: 32,092,592 (GRCm39)	H88Y	probably damaging	Het
Tll2	T	C	19: 41,084,336 (GRCm39)	D697G	probably damaging	Het
Trim34a	A	G	7: 103,910,200 (GRCm39)	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,346,847 (GRCm39)	I64T	probably benign	Het
Vstm2b	T	A	7: 40,551,912 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,140,639 (GRCm39)	F238L	probably damaging	Het
Wiz	T	C	17: 32,596,822 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,579,434 (GRCm39)	S560G	probably benign	Het

Other mutations in Acnat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Acnat2	APN	4	49,383,250 (GRCm39)	missense	probably damaging	1.00
IGL01321:Acnat2	APN	4	49,380,269 (GRCm39)	missense	probably damaging	0.99
IGL01891:Acnat2	APN	4	49,383,395 (GRCm39)	missense	probably benign	0.00
IGL01993:Acnat2	APN	4	49,380,131 (GRCm39)	missense	probably benign	0.00
IGL02517:Acnat2	APN	4	49,380,647 (GRCm39)	missense	possibly damaging	0.79
IGL02517:Acnat2	APN	4	49,380,639 (GRCm39)	nonsense	probably null
IGL03249:Acnat2	APN	4	49,381,787 (GRCm39)	missense	probably benign	0.00
PIT4494001:Acnat2	UTSW	4	49,383,133 (GRCm39)	missense	probably benign	0.16
R0050:Acnat2	UTSW	4	49,380,586 (GRCm39)	missense	probably benign	0.03
R0462:Acnat2	UTSW	4	49,383,084 (GRCm39)	critical splice donor site	probably null
R0482:Acnat2	UTSW	4	49,383,534 (GRCm39)	missense	probably benign	0.09
R0590:Acnat2	UTSW	4	49,383,273 (GRCm39)	missense	probably benign	0.00
R0616:Acnat2	UTSW	4	49,380,269 (GRCm39)	missense	probably damaging	0.99
R1099:Acnat2	UTSW	4	49,380,484 (GRCm39)	missense	probably benign	0.01
R1678:Acnat2	UTSW	4	49,380,568 (GRCm39)	missense	probably damaging	0.98
R1710:Acnat2	UTSW	4	49,380,587 (GRCm39)	missense	probably benign	0.16
R2190:Acnat2	UTSW	4	49,383,551 (GRCm39)	start codon destroyed	probably benign
R4863:Acnat2	UTSW	4	49,380,172 (GRCm39)	missense	probably damaging	1.00
R5031:Acnat2	UTSW	4	49,380,631 (GRCm39)	missense	probably damaging	1.00
R5936:Acnat2	UTSW	4	49,383,362 (GRCm39)	missense	probably benign	0.00
R6451:Acnat2	UTSW	4	49,380,262 (GRCm39)	missense	probably benign	0.00
R6526:Acnat2	UTSW	4	49,383,497 (GRCm39)	missense	probably benign	0.00
R6759:Acnat2	UTSW	4	49,380,254 (GRCm39)	missense	probably benign	0.01
R7180:Acnat2	UTSW	4	49,381,803 (GRCm39)	nonsense	probably null
R7356:Acnat2	UTSW	4	49,383,507 (GRCm39)	missense	probably damaging	1.00
R7879:Acnat2	UTSW	4	49,383,299 (GRCm39)	missense	probably damaging	1.00
R9626:Acnat2	UTSW	4	49,380,179 (GRCm39)	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