Mutagenetix > Incidental Mutation

Incidental Mutation 'R6759:Acnat2'

531130

Institutional Source

Beutler Lab

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

MMRRC Submission

044875-MU

Accession Numbers

Essential gene?

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

Stock #

R6759 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49380254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 375 (V375L)

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: V375L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: V375L

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: V357L

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

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: V357L

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,692 (GRCm39)	S841G	probably benign	Het
4933427I04Rik	G	T	4: 123,753,879 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,921,399 (GRCm39)	T199A	probably damaging	Het
Aldh1a7	T	C	19: 20,677,320 (GRCm39)	T434A	possibly damaging	Het
Aldh3a2	T	C	11: 61,156,088 (GRCm39)	T63A	probably benign	Het
Anxa2	T	C	9: 69,391,103 (GRCm39)	S97P	probably damaging	Het
Apip	T	C	2: 102,922,191 (GRCm39)	S186P	probably benign	Het
Apob	A	G	12: 8,061,049 (GRCm39)	K3177R	probably benign	Het
Atm	C	T	9: 53,429,859 (GRCm39)	W392*	probably null	Het
Atp8b1	T	A	18: 64,679,161 (GRCm39)	R773S	probably benign	Het
Bicdl2	T	A	17: 23,885,718 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,042,234 (GRCm39)	T2740I	possibly damaging	Het
Cacng3	G	A	7: 122,361,547 (GRCm39)		probably null	Het
Clca3a1	G	T	3: 144,455,450 (GRCm39)	L448M	probably damaging	Het
Clk4	A	G	11: 51,166,401 (GRCm39)	I94M	possibly damaging	Het
Cnot3	G	T	7: 3,654,918 (GRCm39)	V124F	probably damaging	Het
Cyp4a30b	C	T	4: 115,318,571 (GRCm39)	A426V	probably benign	Het
Dact1	T	A	12: 71,364,911 (GRCm39)	L564*	probably null	Het
Dnah8	T	A	17: 30,882,266 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,033,445 (GRCm39)	T975S	probably benign	Het
Dock8	C	A	19: 25,104,848 (GRCm39)	H739Q	probably damaging	Het
Efr3b	T	A	12: 4,034,613 (GRCm39)	N186Y	probably damaging	Het
Enam	G	A	5: 88,649,550 (GRCm39)	G278D	probably damaging	Het
Fgl2	A	G	5: 21,578,256 (GRCm39)	D181G	probably benign	Het
Gfra3	G	T	18: 34,828,926 (GRCm39)	S156*	probably null	Het
Jam3	G	C	9: 27,013,276 (GRCm39)	T98S	probably benign	Het
Ltbp2	A	T	12: 84,834,184 (GRCm39)	I1435N	probably damaging	Het
Man2a1	G	A	17: 64,932,383 (GRCm39)	A157T	probably benign	Het
Mcm3ap	T	A	10: 76,337,148 (GRCm39)	V1361E	probably benign	Het
Nobox	A	T	6: 43,284,538 (GRCm39)	L36Q	possibly damaging	Het
Or2ag12	T	A	7: 106,277,100 (GRCm39)	M198L	probably benign	Het
Or51a10	A	G	7: 103,699,334 (GRCm39)	S76P	probably damaging	Het
Parp4	G	A	14: 56,857,947 (GRCm39)	V860I	probably benign	Het
Pim3	T	A	15: 88,747,296 (GRCm39)		probably null	Het
Ptpn13	A	T	5: 103,713,121 (GRCm39)	N1748I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,145 (GRCm39)	T356A	possibly damaging	Het
Ranbp2	C	T	10: 58,293,559 (GRCm39)	R310*	probably null	Het
Rassf5	C	T	1: 131,109,988 (GRCm39)	V190I	probably benign	Het
Rgl1	T	G	1: 152,409,281 (GRCm39)	Q481P	probably damaging	Het
Rrp1b	A	G	17: 32,276,063 (GRCm39)	T537A	probably benign	Het
Smok3c	T	A	5: 138,063,699 (GRCm39)	S395R	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Strn4	A	T	7: 16,556,978 (GRCm39)	E145V	probably damaging	Het
Tex21	T	A	12: 76,251,086 (GRCm39)		probably null	Het
Usp37	G	A	1: 74,534,908 (GRCm39)	R13*	probably null	Het
Uty	G	T	Y: 1,174,735 (GRCm39)	L222I	probably damaging	Homo
Wwp2	A	G	8: 108,267,314 (GRCm39)	T309A	probably damaging	Het
Zfp40	C	T	17: 23,395,510 (GRCm39)	R359H	possibly 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
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
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'- CCCAGCAATCTCTATCTGATGC -3'
(R):5'- ATACTTCCCGTGGAAAAGGC -3'

Sequencing Primer
(F):5'- AGCAATCTCTATCTGATGCTTTTATC -3'
(R):5'- GGCCCAGGGGAAAATCC -3'

Posted On

2018-08-01