Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00088:Naa15'

1793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa15

Ensembl Gene

ENSMUSG00000063273

Gene Name

N(alpha)-acetyltransferase 15, NatA auxiliary subunit

Synonyms

tubedown, ASTBDN, Tbdn-1, mNAT1, 5730450D16Rik, Narg1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

51415148-51476507 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51438405 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 19 (V19D)

Ref Sequence

ENSEMBL: ENSMUSP00000141433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029303] [ENSMUST00000192419] [ENSMUST00000193266]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029303
AA Change: V69D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: V69D

Domain	Start	End	E-Value	Type
TPR	46	79	6.24e1	SMART
TPR	80	113	1.01e0	SMART
Blast:TPR	224	257	3e-12	BLAST
TPR	374	407	1.87e1	SMART
TPR	408	441	5.06e1	SMART
low complexity region	603	641	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192197

Predicted Effect

probably damaging
Transcript: ENSMUST00000192419
AA Change: V19D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141965
Gene: ENSMUSG00000063273
AA Change: V19D

Domain	Start	End	E-Value	Type
Blast:TPR	1	29	8e-12	BLAST
Pfam:TPR_2	30	63	3.4e-5	PFAM
Pfam:TPR_8	30	63	2.6e-4	PFAM
Pfam:TPR_11	31	95	4.8e-7	PFAM
Pfam:TPR_7	32	65	1.5e-2	PFAM
Pfam:TPR_1	37	63	1.6e-4	PFAM
Pfam:TPR_9	38	85	1e-2	PFAM
Pfam:TPR_9	88	126	1.2e0	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192523

Predicted Effect

probably damaging
Transcript: ENSMUST00000193266
AA Change: V19D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: V19D

Domain	Start	End	E-Value	Type
Blast:TPR	1	29	3e-10	BLAST
TPR	30	63	4.9e-3	SMART
Blast:TPR	174	207	3e-12	BLAST
TPR	324	357	8.9e-2	SMART
TPR	358	391	2.4e-1	SMART
coiled coil region	533	585	N/A	INTRINSIC
Blast:TPR	622	655	7e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195430

Coding Region Coverage

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 the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Ankhd1	A	G	18: 36,665,459		probably benign	Het
Anpep	A	G	7: 79,825,736	V879A	possibly damaging	Het
Asb13	T	G	13: 3,643,476	V78G	probably null	Het
Atad2b	A	G	12: 5,024,593	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,098,510	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,341,670	G185C	probably damaging	Het
C87499	T	A	4: 88,629,070	K121N	probably benign	Het
Catsperg2	A	G	7: 29,705,404	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,561,306	S52T	unknown	Het
Col4a2	G	T	8: 11,443,685	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,918,468	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,503,842	N125I	probably benign	Het
Cyp2t4	A	T	7: 27,155,298	M68L	probably benign	Het
Dclk2	T	A	3: 86,799,090		probably null	Het
Dmxl2	T	C	9: 54,401,704	D1921G	probably benign	Het
Dnah10	G	A	5: 124,828,603	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,178,911	I273T	probably damaging	Het
Extl1	T	C	4: 134,358,019	K596E	probably damaging	Het
Fads3	A	T	19: 10,052,299	D108V	probably null	Het
Fam135b	A	G	15: 71,450,494	L1274P	probably damaging	Het
Fat1	T	A	8: 45,024,602	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,292,680	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,200,971		probably null	Het
Gm13119	T	A	4: 144,362,530	H139Q	possibly damaging	Het
Gpr137	A	C	19: 6,939,704	V139G	probably damaging	Het
Ikbke	A	G	1: 131,270,012		probably null	Het
Irak2	A	T	6: 113,678,675	N285Y	probably benign	Het
Kcnu1	G	A	8: 25,897,856	C566Y	probably benign	Het
Klhl29	G	A	12: 5,140,705	P97S	probably benign	Het
Lama4	T	C	10: 39,065,595		probably benign	Het
Lhx6	G	A	2: 36,091,716		probably benign	Het
Mdn1	T	C	4: 32,723,651	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Ncbp3	A	T	11: 73,073,529		probably benign	Het
Nckipsd	G	A	9: 108,814,969	V530I	probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,591,924		probably benign	Het
Nupl1	T	A	14: 60,242,577	I207L	probably benign	Het
Olfr113	A	T	17: 37,574,917	C169S	probably damaging	Het
Olfr180	C	T	16: 58,915,850	E264K	probably benign	Het
Olfr290	T	A	7: 84,916,370	M197K	probably damaging	Het
Otud4	T	A	8: 79,672,881	N741K	probably damaging	Het
Pard6a	T	A	8: 105,703,201	C264S	probably benign	Het
Plch2	T	C	4: 155,006,642	N276S	probably damaging	Het
Racgap1	T	C	15: 99,636,122		probably benign	Het
Rad51d	T	C	11: 82,889,746	D70G	probably damaging	Het
Recql4	C	T	15: 76,707,336	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,466,779	S149T	probably benign	Het
Rpl13a	C	A	7: 45,127,071		probably null	Het
Scn10a	T	C	9: 119,672,226	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,764,440	I1878V	probably benign	Het
Sgcg	T	A	14: 61,240,347	R98*	probably null	Het
Tas2r137	A	T	6: 40,491,340	I35F	probably benign	Het
Tex19.2	A	G	11: 121,116,812	F270S	possibly damaging	Het
Traip	C	T	9: 107,970,550	R391W	probably benign	Het
Trim7	A	G	11: 48,845,571	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,249,487	V8D	probably benign	Het
Ubr3	A	C	2: 69,988,810	I9L	probably benign	Het
Usp42	A	G	5: 143,717,142	S575P	probably benign	Het
Vmn2r52	G	T	7: 10,169,096	H468Q	probably benign	Het
Vmn2r59	T	A	7: 42,012,064	T776S	possibly damaging	Het
Zcchc6	T	C	13: 59,816,698	E221G	probably damaging	Het

Other mutations in Naa15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Naa15	APN	3	51442853	missense	probably damaging	1.00
IGL01837:Naa15	APN	3	51443948	nonsense	probably null
IGL02619:Naa15	APN	3	51460131	missense	probably benign	0.03
IGL02691:Naa15	APN	3	51451326	missense	probably damaging	0.97
IGL02974:Naa15	APN	3	51461207	missense	possibly damaging	0.95
R0009:Naa15	UTSW	3	51470219	missense	probably damaging	1.00
R0010:Naa15	UTSW	3	51436213	critical splice acceptor site	probably null
R0114:Naa15	UTSW	3	51448438	critical splice donor site	probably null
R0411:Naa15	UTSW	3	51465639	missense	possibly damaging	0.81
R1348:Naa15	UTSW	3	51465670	missense	probably damaging	1.00
R1941:Naa15	UTSW	3	51455934	nonsense	probably null
R3082:Naa15	UTSW	3	51460050	missense	probably damaging	1.00
R4377:Naa15	UTSW	3	51448365	missense	possibly damaging	0.91
R4591:Naa15	UTSW	3	51441924	missense	probably damaging	1.00
R4980:Naa15	UTSW	3	51458752	critical splice donor site	probably null
R5087:Naa15	UTSW	3	51457285	splice site	probably null
R5139:Naa15	UTSW	3	51443840	missense	probably damaging	1.00
R5289:Naa15	UTSW	3	51455894	missense	probably damaging	1.00
R5527:Naa15	UTSW	3	51441947	missense	probably damaging	1.00
R5776:Naa15	UTSW	3	51460026	missense	probably damaging	0.96
R5909:Naa15	UTSW	3	51460064	missense	probably damaging	1.00
R6034:Naa15	UTSW	3	51442821	missense	probably damaging	0.98
R6034:Naa15	UTSW	3	51442821	missense	probably damaging	0.98
R6194:Naa15	UTSW	3	51463300	missense	probably benign	0.00
R6291:Naa15	UTSW	3	51442791	missense	probably damaging	1.00
R6522:Naa15	UTSW	3	51471514	missense	probably damaging	1.00
R6731:Naa15	UTSW	3	51455873	missense	probably damaging	1.00
R6984:Naa15	UTSW	3	51472600	missense	probably benign	0.10
R7040:Naa15	UTSW	3	51472784	missense	possibly damaging	0.89
R7091:Naa15	UTSW	3	51458756	splice site	probably null
R7380:Naa15	UTSW	3	51459847	splice site	probably null
R7685:Naa15	UTSW	3	51469974	splice site	probably null
R7781:Naa15	UTSW	3	51471483	critical splice acceptor site	probably null
R7797:Naa15	UTSW	3	51448610	missense	probably damaging	0.99
R7836:Naa15	UTSW	3	51463267	nonsense	probably null
R7981:Naa15	UTSW	3	51458671	missense	probably damaging	0.96
R8513:Naa15	UTSW	3	51460023	missense	probably damaging	0.99
X0020:Naa15	UTSW	3	51470132	missense	probably benign	0.00
X0061:Naa15	UTSW	3	51448600	missense	probably damaging	1.00
X0061:Naa15	UTSW	3	51448601	missense	probably benign	0.11

Posted On

2011-07-12