Mutagenetix > Incidental Mutation

Incidental Mutation 'R6575:Acnat1'

523385

Institutional Source

Beutler Lab

Gene Symbol

Acnat1

Ensembl Gene

ENSMUSG00000070985

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 1

Synonyms

MMRRC Submission

044699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49447105-49473912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49450785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 109 (Y109H)

Ref Sequence

ENSEMBL: ENSMUSP00000103325 (fasta)

Gene Model

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

AlphaFold

A2AKK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095086
AA Change: Y109H

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: Y109H

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

possibly damaging
Transcript: ENSMUST00000107697
AA Change: Y109H

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: Y109H

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

probably benign
Transcript: ENSMUST00000135976

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,683 (GRCm39)	Y1177C	probably damaging	Het
Adgrf3	T	A	5: 30,401,522 (GRCm39)	K835N	possibly damaging	Het
Afg1l	T	C	10: 42,194,712 (GRCm39)	D360G	probably damaging	Het
Ap3s1	C	T	18: 46,887,448 (GRCm39)	T27M	probably benign	Het
Atp8b4	A	G	2: 126,256,284 (GRCm39)	L225P	probably damaging	Het
Bicra	G	A	7: 15,713,056 (GRCm39)	T997I	probably benign	Het
Bod1l	T	C	5: 41,995,411 (GRCm39)	R112G	probably damaging	Het
Cabin1	T	C	10: 75,561,535 (GRCm39)	T989A	possibly damaging	Het
Cog1	C	A	11: 113,546,887 (GRCm39)	Q494K	probably benign	Het
Cyb5rl	T	C	4: 106,942,550 (GRCm39)	Y160H	probably benign	Het
Dnajb8	A	G	6: 88,200,057 (GRCm39)	N198D	probably damaging	Het
Eif1ad11	T	C	12: 87,994,117 (GRCm39)	I115T	probably damaging	Het
Eif3l	C	A	15: 78,970,778 (GRCm39)	Q351K	possibly damaging	Het
Esr1	T	C	10: 4,916,301 (GRCm39)		probably benign	Het
Fam3c	G	T	6: 22,329,607 (GRCm39)	A40D	probably damaging	Het
Fcrla	A	G	1: 170,749,797 (GRCm39)	S87P	probably damaging	Het
Glra1	A	G	11: 55,411,822 (GRCm39)	Y246H	probably damaging	Het
Gm45871	T	A	18: 90,609,844 (GRCm39)	C361S	probably damaging	Het
Greb1l	A	G	18: 10,547,347 (GRCm39)	N1522D	possibly damaging	Het
Hcn4	T	C	9: 58,731,435 (GRCm39)	M214T	unknown	Het
Heatr5b	A	T	17: 79,070,418 (GRCm39)	V1665E	probably damaging	Het
Hemgn	C	A	4: 46,395,990 (GRCm39)	M415I	possibly damaging	Het
Hibadh	G	A	6: 52,524,013 (GRCm39)	T295I	probably damaging	Het
Iars1	T	C	13: 49,878,745 (GRCm39)	L947P	probably damaging	Het
Icam2	G	A	11: 106,269,585 (GRCm39)	T178I	probably damaging	Het
Lbr	A	G	1: 181,663,763 (GRCm39)	S86P	probably damaging	Het
Lipe	G	A	7: 25,082,749 (GRCm39)	T801I	probably benign	Het
Lrp6	T	C	6: 134,518,934 (GRCm39)	T44A	possibly damaging	Het
Malrd1	A	G	2: 15,847,439 (GRCm39)	H1193R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,699,676 (GRCm39)	I1671V	probably benign	Het
Or2c1	A	G	16: 3,656,894 (GRCm39)	D19G	probably benign	Het
Osbpl9	T	C	4: 108,930,129 (GRCm39)	D334G	possibly damaging	Het
Pdcd11	A	G	19: 47,098,117 (GRCm39)	D801G	probably damaging	Het
Pfdn4	C	A	2: 170,358,556 (GRCm39)	D16E	probably benign	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Rrp9	C	T	9: 106,360,778 (GRCm39)	T253I	probably damaging	Het
Speer1m	A	T	5: 11,970,612 (GRCm39)	K62*	probably null	Het
Tnrc6a	A	G	7: 122,769,133 (GRCm39)	T308A	probably damaging	Het
Trgv4	T	A	13: 19,369,250 (GRCm39)	C34S	probably benign	Het
Trhr	A	G	15: 44,092,602 (GRCm39)	M280V	possibly damaging	Het
Trp53bp1	G	A	2: 121,059,084 (GRCm39)	H926Y	probably damaging	Het
Trpv5	A	T	6: 41,652,903 (GRCm39)	I90K	probably benign	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Vav1	A	C	17: 57,612,280 (GRCm39)	R513S	probably damaging	Het
Vmn2r100	A	T	17: 19,741,671 (GRCm39)	T128S	probably benign	Het
Zfp687	T	C	3: 94,915,700 (GRCm39)	Y1024C	probably damaging	Het
Zfp938	C	A	10: 82,061,160 (GRCm39)	G487*	probably null	Het
Znrf2	A	G	6: 54,855,430 (GRCm39)	Y73C	probably damaging	Het

Other mutations in Acnat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02733:Acnat1	APN	4	49,447,793 (GRCm39)	missense	probably benign
IGL03241:Acnat1	APN	4	49,447,702 (GRCm39)	missense	probably benign	0.01
R0478:Acnat1	UTSW	4	49,450,901 (GRCm39)	missense	probably damaging	1.00
R0568:Acnat1	UTSW	4	49,451,003 (GRCm39)	missense	possibly damaging	0.93
R1299:Acnat1	UTSW	4	49,450,925 (GRCm39)	missense	possibly damaging	0.94
R1538:Acnat1	UTSW	4	49,447,835 (GRCm39)	missense	possibly damaging	0.69
R1750:Acnat1	UTSW	4	49,451,042 (GRCm39)	missense	probably benign	0.08
R1847:Acnat1	UTSW	4	49,447,716 (GRCm39)	missense	possibly damaging	0.71
R1913:Acnat1	UTSW	4	49,447,498 (GRCm39)	missense	probably damaging	1.00
R2401:Acnat1	UTSW	4	49,451,077 (GRCm39)	missense	possibly damaging	0.72
R3195:Acnat1	UTSW	4	49,447,457 (GRCm39)	missense	probably damaging	1.00
R3196:Acnat1	UTSW	4	49,447,457 (GRCm39)	missense	probably damaging	1.00
R3948:Acnat1	UTSW	4	49,447,477 (GRCm39)	missense	possibly damaging	0.52
R4395:Acnat1	UTSW	4	49,447,679 (GRCm39)	missense	probably benign	0.00
R4598:Acnat1	UTSW	4	49,450,781 (GRCm39)	missense	probably benign	0.22
R4774:Acnat1	UTSW	4	49,450,784 (GRCm39)	missense	probably benign	0.08
R7545:Acnat1	UTSW	4	49,449,142 (GRCm39)	nonsense	probably null
R7891:Acnat1	UTSW	4	49,449,181 (GRCm39)	missense	possibly damaging	0.89
R7970:Acnat1	UTSW	4	49,449,266 (GRCm39)	missense	probably damaging	1.00
R8219:Acnat1	UTSW	4	49,447,748 (GRCm39)	missense	probably benign	0.02
R8232:Acnat1	UTSW	4	49,450,817 (GRCm39)	missense	probably damaging	0.99
R8312:Acnat1	UTSW	4	49,449,142 (GRCm39)	nonsense	probably null
R9408:Acnat1	UTSW	4	49,447,773 (GRCm39)	missense	probably benign	0.35
R9746:Acnat1	UTSW	4	49,450,652 (GRCm39)	missense	probably damaging	1.00
Z1088:Acnat1	UTSW	4	49,447,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTAACGGATTTCTACACCTATTTCC -3'
(R):5'- TGTGTTCCAATCCCAAGCC -3'

Sequencing Primer
(F):5'- GGATTTCTACACCTATTTCCATACAC -3'
(R):5'- CTTCTACAAGACTAACGAGGCTGG -3'

Posted On

2018-06-22