Mutagenetix > Incidental Mutation

Incidental Mutation 'R1099:Acnat2'

97859

Institutional Source

Beutler Lab

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

MMRRC Submission

039173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49380484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 298 (T298I)

Ref Sequence

ENSEMBL: ENSMUSP00000080256 (fasta)

Gene Model

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

AlphaFold

Q8BGG9

Predicted Effect

probably benign
Transcript: ENSMUST00000081541
AA Change: T298I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: T298I

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: T280I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: T280I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca7	G	T	10: 79,849,577 (GRCm39)	E1921*	probably null	Het
Agbl4	T	C	4: 110,812,860 (GRCm39)		probably null	Het
Angpt2	T	A	8: 18,749,149 (GRCm39)	T323S	probably damaging	Het
Ano2	A	G	6: 125,784,810 (GRCm39)	K299R	probably damaging	Het
Armc2	G	T	10: 41,793,183 (GRCm39)	Q814K	probably benign	Het
Atp9b	A	C	18: 80,901,841 (GRCm39)	I263S	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Casp12	T	A	9: 5,352,204 (GRCm39)	H135Q	probably benign	Het
Ccdc180	A	G	4: 45,914,225 (GRCm39)	I621V	probably benign	Het
Cd160	G	A	3: 96,713,156 (GRCm39)	A36V	probably damaging	Het
Ctcfl	A	T	2: 172,954,153 (GRCm39)	C315S	probably damaging	Het
Egflam	A	G	15: 7,281,903 (GRCm39)	V411A	probably benign	Het
Ezh1	T	C	11: 101,084,634 (GRCm39)		probably null	Het
Fam171a1	T	A	2: 3,226,354 (GRCm39)	S371T	probably benign	Het
Hspbap1	T	G	16: 35,645,314 (GRCm39)	F333C	probably damaging	Het
Ky	G	C	9: 102,414,923 (GRCm39)	W278C	probably damaging	Het
Lrig3	T	A	10: 125,842,883 (GRCm39)		probably null	Het
Map3k6	A	T	4: 132,974,439 (GRCm39)	S580C	probably damaging	Het
Mark2	T	C	19: 7,254,790 (GRCm39)	T219A	probably benign	Het
Mbd5	A	G	2: 49,148,156 (GRCm39)	I789V	probably benign	Het
Myo18a	T	A	11: 77,709,727 (GRCm39)		probably null	Het
Nos1	A	G	5: 118,061,460 (GRCm39)	T929A	probably damaging	Het
Or2a20	T	C	6: 43,194,558 (GRCm39)	F237S	probably damaging	Het
Or2z9	T	A	8: 72,854,503 (GRCm39)	S300T	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Palmd	T	C	3: 116,716,874 (GRCm39)	N541S	possibly damaging	Het
Pdzd2	A	G	15: 12,373,173 (GRCm39)	S2321P	probably damaging	Het
Prdm8	T	G	5: 98,331,361 (GRCm39)	I71S	probably damaging	Het
Prkg1	A	C	19: 30,549,012 (GRCm39)	S654R	probably benign	Het
Psmf1	A	T	2: 151,560,590 (GRCm39)	H260Q	probably damaging	Het
Rp1	A	T	1: 4,422,513 (GRCm39)	I179N	possibly damaging	Het
Rreb1	A	G	13: 38,132,867 (GRCm39)	K1681E	probably benign	Het
Rtn1	A	T	12: 72,351,241 (GRCm39)		probably null	Het
Scaf4	T	A	16: 90,059,986 (GRCm39)	I37F	unknown	Het
Sema4c	A	G	1: 36,591,191 (GRCm39)	S383P	probably damaging	Het
Shc4	G	T	2: 125,564,764 (GRCm39)	D178E	probably benign	Het
Slc2a5	A	G	4: 150,226,636 (GRCm39)	N366S	probably benign	Het
Slc6a3	A	G	13: 73,715,760 (GRCm39)	N465S	probably benign	Het
Tbc1d9b	C	A	11: 50,037,135 (GRCm39)	D261E	probably benign	Het
Tdrd3	A	T	14: 87,724,675 (GRCm39)	T359S	probably damaging	Het
Thap3	T	C	4: 152,067,788 (GRCm39)	M97V	probably benign	Het
Thg1l	T	A	11: 45,844,988 (GRCm39)	Q88L	possibly damaging	Het
Tjp3	T	C	10: 81,109,657 (GRCm39)	T849A	probably benign	Het
Tomm70a	G	T	16: 56,963,180 (GRCm39)	D400Y	probably damaging	Het
Trak2	T	C	1: 58,961,000 (GRCm39)	I177V	probably benign	Het
Trim66	T	C	7: 109,074,661 (GRCm39)	I533M	probably benign	Het
Ush2a	T	A	1: 188,380,545 (GRCm39)	Y2285N	probably benign	Het
Ush2a	C	T	1: 188,596,836 (GRCm39)	P3859S	probably damaging	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
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
R5194:Acnat2	UTSW	4	49,380,452 (GRCm39)	missense	probably benign
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'- AAAGCACTCCCTGCACTTTACTCTG -3'
(R):5'- GGAATTGGTGTGATCTCCACGAGC -3'

Sequencing Primer
(F):5'- TCCTCCAAAACACATGGGTTG -3'
(R):5'- TGTGATCTCCACGAGCAAAGG -3'

Posted On

2014-01-05