Mutagenetix > Incidental Mutation

Incidental Mutation 'R0590:Acnat2'

55916

Institutional Source

Beutler Lab

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

MMRRC Submission

038780-MU

Accession Numbers

Essential gene?

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

Stock #

R0590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49383273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 93 (M93I)

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: M93I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: M93I

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: M93I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: M93I

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
AA Change: M93I

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

SMART Domains

Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317
AA Change: M93I

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: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	C	13: 70,949,073 (GRCm39)	D196G	probably benign	Het
Adhfe1	T	A	1: 9,618,378 (GRCm39)		probably null	Het
AI661453	A	G	17: 47,777,999 (GRCm39)		probably benign	Het
Apc	G	T	18: 34,449,283 (GRCm39)	E2026*	probably null	Het
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,295,037 (GRCm39)		probably benign	Het
Cad	T	C	5: 31,219,575 (GRCm39)	S688P	probably damaging	Het
Ccdc191	C	T	16: 43,751,704 (GRCm39)	R345*	probably null	Het
Dcaf13	T	A	15: 39,008,480 (GRCm39)		probably benign	Het
Drc1	A	G	5: 30,520,480 (GRCm39)	D607G	probably benign	Het
Fhip1a	T	C	3: 85,579,683 (GRCm39)	R841G	probably benign	Het
Gli1	G	T	10: 127,167,432 (GRCm39)	A607E	possibly damaging	Het
Gls	G	A	1: 52,251,534 (GRCm39)		probably benign	Het
Gria1	A	T	11: 57,180,235 (GRCm39)	Q728H	probably damaging	Het
Hcrtr1	A	G	4: 130,029,487 (GRCm39)	L198P	probably damaging	Het
Ifngr1	T	A	10: 19,479,690 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,769 (GRCm39)	V954A	possibly damaging	Het
Kcnh5	G	T	12: 75,012,035 (GRCm39)	A628D	probably damaging	Het
Kif14	T	C	1: 136,410,210 (GRCm39)	S646P	probably damaging	Het
Ksr1	A	G	11: 78,935,966 (GRCm39)	S133P	probably damaging	Het
Neb	T	C	2: 52,027,302 (GRCm39)	M7143V	probably damaging	Het
Nelfa	G	A	5: 34,059,169 (GRCm39)	P229S	probably damaging	Het
Nfatc2	T	C	2: 168,413,119 (GRCm39)	T169A	probably damaging	Het
Nr1h4	A	G	10: 89,292,429 (GRCm39)	Y398H	probably damaging	Het
Nrcam	A	G	12: 44,610,815 (GRCm39)	E511G	probably damaging	Het
Ocstamp	T	A	2: 165,239,671 (GRCm39)	R172W	probably damaging	Het
Or10ag60	A	G	2: 87,438,338 (GRCm39)	E202G	probably damaging	Het
Or8d1	T	A	9: 38,766,766 (GRCm39)	M136K	probably damaging	Het
Or8g19	T	C	9: 39,056,017 (GRCm39)	V207A	probably benign	Het
Phf14	G	A	6: 11,961,577 (GRCm39)	V405I	possibly damaging	Het
Plk5	G	A	10: 80,196,057 (GRCm39)	R238H	probably damaging	Het
Pole	A	G	5: 110,465,792 (GRCm39)	E1240G	probably benign	Het
Prdm15	A	G	16: 97,598,961 (GRCm39)	I899T	possibly damaging	Het
Psip1	T	C	4: 83,376,381 (GRCm39)	N486S	probably benign	Het
Rlf	A	G	4: 121,028,030 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,997,759 (GRCm39)	S255P	probably damaging	Het
Rusf1	A	G	7: 127,896,642 (GRCm39)	L134P	probably damaging	Het
Sema6c	A	G	3: 95,079,934 (GRCm39)	K711E	probably damaging	Het
Slc4a10	A	T	2: 62,021,237 (GRCm39)		probably benign	Het
Trim36	T	G	18: 46,305,643 (GRCm39)	S435R	probably benign	Het
Ucp1	A	G	8: 84,018,232 (GRCm39)		probably benign	Het
Vmn1r17	T	C	6: 57,337,999 (GRCm39)	Y122C	probably benign	Het
Vmn1r23	A	G	6: 57,903,349 (GRCm39)	V143A	probably benign	Het
Wdfy4	T	A	14: 32,763,131 (GRCm39)	Q2166L	probably benign	Het
Zc3h7b	C	T	15: 81,661,199 (GRCm39)	T346M	possibly damaging	Het
Zfhx4	T	A	3: 5,467,693 (GRCm39)	V2617D	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
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
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'- ACAAAGTCAGTCTCACCTGGAGGG -3'
(R):5'- CGCAGATAGTGACCATCAAGGCAAC -3'

Sequencing Primer
(F):5'- GAGAAAAAGGGCTCCCCG -3'
(R):5'- CCATCAAGGCAACAGTGAAAG -3'

Posted On

2013-07-11