Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:Naa10'

160016

Institutional Source

Beutler Lab

Gene Symbol

Naa10

Ensembl Gene

ENSMUSG00000031388

Gene Name

N(alpha)-acetyltransferase 10, NatA catalytic subunit

Synonyms

2310039H09Rik, Te2, Ard1, Ard1a

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1419 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

73916873-73921944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73917916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000094040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033763] [ENSMUST00000096316] [ENSMUST00000114379] [ENSMUST00000114387] [ENSMUST00000114389] [ENSMUST00000114390] [ENSMUST00000114391] [ENSMUST00000116578] [ENSMUST00000155597]

AlphaFold

Q9QY36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033763
AA Change: V133A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033763
Gene: ENSMUSG00000031388
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	40	125	2.9e-9	PFAM
Pfam:Acetyltransf_1	46	129	7.1e-18	PFAM
Pfam:FR47	56	137	1.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096316
AA Change: V133A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094040
Gene: ENSMUSG00000031388
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	3.3e-7	PFAM
Pfam:Acetyltransf_7	40	129	6.5e-9	PFAM
Pfam:Acetyltransf_1	46	129	7.8e-18	PFAM
Pfam:FR47	55	137	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114379

SMART Domains

Protein: ENSMUSP00000110020
Gene: ENSMUSG00000031387

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:GlcNAc_2-epim	58	383	1.8e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114387
AA Change: V133A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110029
Gene: ENSMUSG00000031388
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_4	23	147	2.1e-6	PFAM
Pfam:Acetyltransf_10	31	125	2e-7	PFAM
Pfam:Acetyltransf_7	40	129	4.1e-9	PFAM
Pfam:Acetyltransf_1	46	129	5e-18	PFAM
Pfam:FR47	54	137	1.1e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114389
AA Change: V133A

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110031
Gene: ENSMUSG00000031388
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	5.5e-8	PFAM
Pfam:Acetyltransf_7	40	129	1.6e-9	PFAM
Pfam:Acetyltransf_1	46	129	1.7e-18	PFAM
Pfam:FR47	55	137	3.8e-10	PFAM
low complexity region	179	196	N/A	INTRINSIC
low complexity region	202	216	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114390
AA Change: V131A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110032
Gene: ENSMUSG00000031388
AA Change: V131A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	33	123	2.2e-6	PFAM
Pfam:Acetyltransf_7	40	127	5.5e-9	PFAM
Pfam:Acetyltransf_1	46	127	7e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114391
AA Change: V118A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110033
Gene: ENSMUSG00000031388
AA Change: V118A

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	40	125	2.2e-8	PFAM
Pfam:Acetyltransf_1	46	115	9.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116578

SMART Domains

Protein: ENSMUSP00000112277
Gene: ENSMUSG00000031387

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:GlcNAc_2-epim	47	397	6.8e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153929

Predicted Effect

probably benign
Transcript: ENSMUST00000155597

SMART Domains

Protein: ENSMUSP00000116549
Gene: ENSMUSG00000031387

Domain	Start	End	E-Value	Type
Pfam:GlcNAc_2-epim	36	386	4.9e-47	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,374,902	M894K	probably benign	Het
Ablim1	C	A	19: 57,134,633	C173F	probably damaging	Het
Abtb2	G	T	2: 103,709,420	R710L	probably benign	Het
AI481877	T	C	4: 59,064,457	T826A	possibly damaging	Het
Arap3	T	C	18: 37,978,432	T1144A	possibly damaging	Het
Arhgef12	A	T	9: 43,027,220	V92D	probably damaging	Het
Ash1l	T	G	3: 88,984,897	M1361R	probably damaging	Het
Atm	A	C	9: 53,457,489	N2337K	probably benign	Het
Cog7	T	C	7: 121,955,992	E316G	probably damaging	Het
Dsp	A	G	13: 38,186,695	Y858C	probably damaging	Het
Enc1	G	T	13: 97,246,184	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706	V506A	probably benign	Het
Gm16380	C	T	9: 53,884,187		noncoding transcript	Het
H2-Ke6	G	A	17: 34,027,643	R89C	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ift80	T	A	3: 68,940,198	N322Y	probably damaging	Het
Igsf9	T	A	1: 172,498,011	V1082E	probably damaging	Het
Katnal2	A	T	18: 76,977,432	L481Q	possibly damaging	Het
Kcnma1	T	C	14: 23,367,642	T713A	probably damaging	Het
Kif13a	T	C	13: 46,825,235	T230A	probably damaging	Het
Klhl14	C	A	18: 21,652,193	R59L	probably damaging	Het
Mecom	A	G	3: 29,980,889	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,534,321	M178L	probably benign	Het
Myof	T	C	19: 37,901,911	E1971G	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434		noncoding transcript	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1042	A	G	2: 86,159,429	*314Q	probably null	Het
Olfr1234	T	C	2: 89,363,322	T36A	probably damaging	Het
Olfr1297	A	T	2: 111,621,295	F260I	probably benign	Het
Oplah	T	C	15: 76,297,920	I1047V	probably benign	Het
Paip1	A	G	13: 119,457,017	D189G	probably damaging	Het
Pkn1	A	G	8: 83,673,522	F624L	probably damaging	Het
Plxnb1	C	A	9: 109,114,386	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720	E47D	probably benign	Het
Snai2	C	T	16: 14,708,180	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,715,411	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,966,994	Q78*	probably null	Het
Tktl2	A	G	8: 66,513,038	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,603,977	I494F	possibly damaging	Het
Trf	C	T	9: 103,226,108	V119M	probably damaging	Het

Other mutations in Naa10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03324:Naa10	APN	X	73919962	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGACACTCAATCTTGGTCTTGCC -3'
(R):5'- TACCCTGGATGCTACATGCTGCTC -3'

Sequencing Primer
(F):5'- AATCTTGGTCTTGCCTCTAGC -3'
(R):5'- GCTCGGCTTCACTGGAAAAG -3'

Posted On

2014-03-14