Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Acnat1'

248676

Institutional Source

Beutler Lab

Gene Symbol

Acnat1

Ensembl Gene

ENSMUSG00000070985

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 1

Synonyms

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49447105-49473912 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49451077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 11 (N11K)

Ref Sequence

ENSEMBL: ENSMUSP00000121168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095086] [ENSMUST00000107697] [ENSMUST00000135976]

AlphaFold

A2AKK5

Predicted Effect

probably benign
Transcript: ENSMUST00000095086
AA Change: N11K

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

SMART Domains

Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: N11K

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	15	144	2.2e-44	PFAM
low complexity region	149	162	N/A	INTRINSIC
Pfam:Abhydrolase_5	170	360	3.6e-8	PFAM
Pfam:FSH1	191	361	4.5e-7	PFAM
Pfam:BAAT_C	206	411	5.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107697
AA Change: N11K

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

SMART Domains

Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: N11K

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	14	145	5.7e-42	PFAM
Pfam:Abhydrolase_5	156	342	3.3e-8	PFAM
Pfam:BAAT_C	188	393	1.6e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135976
AA Change: N11K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,283,089	L1158P	probably damaging	Het
Ammecr1l	T	A	18: 31,776,003	I217N	possibly damaging	Het
Ankrd11	G	A	8: 122,908,734	R54*	probably null	Het
Ccdc178	C	T	18: 22,131,414		probably null	Het
Ccdc36	G	T	9: 108,413,006	T133N	possibly damaging	Het
Clcn7	T	C	17: 25,153,140	S425P	probably benign	Het
Cnmd	A	G	14: 79,656,605	V114A	probably damaging	Het
Col13a1	T	C	10: 61,851,162	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp3a25	T	C	5: 145,986,968		probably null	Het
Dmrta1	A	T	4: 89,691,616	D271V	probably benign	Het
Efcab3	T	A	11: 105,072,318		probably null	Het
Exo5	T	C	4: 120,921,997	I224V	probably damaging	Het
Fam162b	C	A	10: 51,587,218	A118S	probably damaging	Het
Glb1	A	G	9: 114,454,257	T406A	possibly damaging	Het
Grk3	T	C	5: 112,914,983	N666S	probably benign	Het
Hars2	T	C	18: 36,789,523	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,567,603		probably benign	Het
Inpp4b	A	T	8: 81,997,339	D500V	probably benign	Het
Itgb4	A	G	11: 116,006,563	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,340,017	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,756,122	V527I	probably benign	Het
Kmt2b	A	G	7: 30,576,708	Y1789H	probably damaging	Het
Lpl	A	C	8: 68,901,243	D412A	possibly damaging	Het
Lrrc27	T	G	7: 139,223,613	L151R	probably damaging	Het
Muc3	T	C	5: 137,154,041		probably benign	Het
Nup205	T	A	6: 35,208,134	Y829*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,021,752	Y447C	probably damaging	Het
Olfr1308	T	C	2: 111,960,149	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,335,169	V381A	probably benign	Het
Prmt2	C	T	10: 76,225,415	W79*	probably null	Het
Skiv2l	T	C	17: 34,840,385	M1029V	probably benign	Het
Stil	A	G	4: 115,016,286	R369G	probably null	Het
Ttc41	T	C	10: 86,724,374	I387T	probably benign	Het
Tubgcp6	A	G	15: 89,102,984	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,769,445	H1206R	probably damaging	Het

Other mutations in Acnat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02733:Acnat1	APN	4	49447793	missense	probably benign
IGL03241:Acnat1	APN	4	49447702	missense	probably benign	0.01
R0478:Acnat1	UTSW	4	49450901	missense	probably damaging	1.00
R0568:Acnat1	UTSW	4	49451003	missense	possibly damaging	0.93
R1299:Acnat1	UTSW	4	49450925	missense	possibly damaging	0.94
R1538:Acnat1	UTSW	4	49447835	missense	possibly damaging	0.69
R1750:Acnat1	UTSW	4	49451042	missense	probably benign	0.08
R1847:Acnat1	UTSW	4	49447716	missense	possibly damaging	0.71
R1913:Acnat1	UTSW	4	49447498	missense	probably damaging	1.00
R3195:Acnat1	UTSW	4	49447457	missense	probably damaging	1.00
R3196:Acnat1	UTSW	4	49447457	missense	probably damaging	1.00
R3948:Acnat1	UTSW	4	49447477	missense	possibly damaging	0.52
R4395:Acnat1	UTSW	4	49447679	missense	probably benign	0.00
R4598:Acnat1	UTSW	4	49450781	missense	probably benign	0.22
R4774:Acnat1	UTSW	4	49450784	missense	probably benign	0.08
R6575:Acnat1	UTSW	4	49450785	missense	possibly damaging	0.53
R7545:Acnat1	UTSW	4	49449142	nonsense	probably null
R7891:Acnat1	UTSW	4	49449181	missense	possibly damaging	0.89
R7970:Acnat1	UTSW	4	49449266	missense	probably damaging	1.00
R8219:Acnat1	UTSW	4	49447748	missense	probably benign	0.02
R8232:Acnat1	UTSW	4	49450817	missense	probably damaging	0.99
R8312:Acnat1	UTSW	4	49449142	nonsense	probably null
R9408:Acnat1	UTSW	4	49447773	missense	probably benign	0.35
R9746:Acnat1	UTSW	4	49450652	missense	probably damaging	1.00
Z1088:Acnat1	UTSW	4	49447588	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCCCTACATAGTCACC -3'
(R):5'- CTTCAAGATCCTGGTTGGGG -3'

Sequencing Primer
(F):5'- CCCCCAAGGCCGGTGTC -3'
(R):5'- CAAGATCCTGGTTGGGGGAAGG -3'

Posted On

2014-11-11