Mutagenetix > Incidental Mutations

Incidental Mutation 'R4004:Naa11'

311387

Institutional Source

Beutler Lab

Gene Symbol

Naa11

Ensembl Gene

ENSMUSG00000046000

Gene Name

N(alpha)-acetyltransferase 11, NatA catalytic subunit

Synonyms

Ard1b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R4004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97382198-97392379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97391793 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 169 (Y169N)

Ref Sequence

ENSEMBL: ENSMUSP00000057336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060265]

Predicted Effect

probably benign
Transcript: ENSMUST00000060265
AA Change: Y169N

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

SMART Domains

Protein: ENSMUSP00000057336
Gene: ENSMUSG00000046000
AA Change: Y169N

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	2.7e-8	PFAM
Pfam:Acetyltransf_7	40	129	1.5e-9	PFAM
Pfam:Acetyltransf_1	46	129	1.4e-18	PFAM
Pfam:FR47	56	137	1.1e-9	PFAM
low complexity region	195	206	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181724

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 79,100,687	E1735D	probably damaging	Het
Ano2	A	G	6: 126,013,279	R788G	probably damaging	Het
Atg9a	T	C	1: 75,186,451	Y335C	probably damaging	Het
BC067074	A	G	13: 113,318,380	Q320R	probably benign	Het
Capn10	T	A	1: 92,940,591	L260Q	probably damaging	Het
Ces1d	A	T	8: 93,178,092	F340Y	probably benign	Het
Ctbp2	C	A	7: 132,991,773	R733L	probably benign	Het
Dgkd	T	C	1: 87,935,423	I64T	possibly damaging	Het
Dmxl2	T	C	9: 54,446,390	I765V	probably benign	Het
Dync2h1	C	A	9: 7,117,404	C62F	probably damaging	Het
F2	T	C	2: 91,628,396	N523S	possibly damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fcgr1	A	G	3: 96,284,352	V380A	probably benign	Het
Gif	T	G	19: 11,759,007	V314G	probably damaging	Het
Herc2	C	A	7: 56,106,465	P751Q	possibly damaging	Het
Ikzf3	C	T	11: 98,489,017	E142K	probably damaging	Het
Kctd3	A	G	1: 188,992,743	S214P	probably benign	Het
Lrpap1	T	A	5: 35,105,544	K50*	probably null	Het
Nupl2	T	C	5: 24,182,436	I408T	probably damaging	Het
Olfr366	A	T	2: 37,219,948	H153L	probably benign	Het
Olfr721-ps1	C	T	14: 14,408,152	A308V	probably benign	Het
Plxnc1	G	A	10: 94,794,597	Q1512*	probably null	Het
Ptpn14	A	G	1: 189,850,510	N518S	probably benign	Het
Rapgef5	A	G	12: 117,748,397	I740V	probably damaging	Het
Ric1	C	T	19: 29,579,801	R429C	probably benign	Het
Rpn2	T	C	2: 157,318,008	L548P	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Slc28a1	T	C	7: 81,169,038	S580P	probably damaging	Het
Slco6c1	A	G	1: 97,075,885	Y496H	probably damaging	Het
Spag5	T	C	11: 78,321,529	M1101T	probably benign	Het
Utp11	A	T	4: 124,682,437	F138I	probably damaging	Het
Vcp	G	A	4: 42,983,028	T606I	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp316	A	G	5: 143,255,119	S382P	possibly damaging	Het

Other mutations in Naa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4469001:Naa11	UTSW	5	97391626	critical splice donor site	probably null
R2567:Naa11	UTSW	5	97391759	missense	probably benign
R3686:Naa11	UTSW	5	97391789	missense	probably benign	0.00
R6268:Naa11	UTSW	5	97392210	missense	probably damaging	1.00
R7687:Naa11	UTSW	5	97391789	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGCTATGACTCAAAGGGG -3'
(R):5'- AGAACTTCGGCGCCAAGTAC -3'

Sequencing Primer
(F):5'- GCTATGACTCAAAGGGGTACAG -3'
(R):5'- CAAGTACGTGTCCCTGCAC -3'

Posted On

2015-04-29