Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03249:Acnat2'

414508

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03249

Quality Score

Status

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49381787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 202 (K202E)

Ref Sequence

ENSEMBL: ENSMUSP00000119135 (fasta)

Gene Model

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

AlphaFold

Q8BGG9

Predicted Effect

probably benign
Transcript: ENSMUST00000081541
AA Change: K202E

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

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: K202E

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: K184E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: K184E

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: K202E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317
AA Change: K202E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,149 (GRCm39)	Y18C	probably damaging	Het
Abcc4	A	G	14: 118,865,118 (GRCm39)		probably benign	Het
Aoc1l3	A	T	6: 48,965,303 (GRCm39)	H437L	probably benign	Het
Arid2	A	T	15: 96,299,846 (GRCm39)	R1786S	probably damaging	Het
Atp2a1	C	T	7: 126,061,977 (GRCm39)	E40K	probably benign	Het
Cdc23	A	G	18: 34,777,069 (GRCm39)		probably benign	Het
Ctnnd2	A	G	15: 30,683,382 (GRCm39)	D461G	probably benign	Het
Galntl6	G	T	8: 58,230,210 (GRCm39)		probably benign	Het
Gcc2	T	A	10: 58,106,814 (GRCm39)	Y583*	probably null	Het
Or11g7	T	C	14: 50,690,668 (GRCm39)	V53A	probably damaging	Het
Plekhg2	C	A	7: 28,067,427 (GRCm39)	R281L	probably damaging	Het
Rbm27	A	G	18: 42,434,812 (GRCm39)	D292G	probably damaging	Het
Ryr3	A	T	2: 112,471,001 (GRCm39)	M4594K	probably benign	Het
Sec22a	T	C	16: 35,168,133 (GRCm39)	Y126C	probably damaging	Het
Svopl	T	C	6: 37,993,988 (GRCm39)	T348A	probably benign	Het
Tecta	T	C	9: 42,303,182 (GRCm39)	E150G	probably benign	Het
Ttc8	T	G	12: 98,910,080 (GRCm39)		probably benign	Het
Zfp51	T	A	17: 21,683,701 (GRCm39)	N105K	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
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
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

Posted On

2016-08-02