Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Naa15'

508400

Institutional Source

Beutler Lab

Gene Symbol

Naa15

Ensembl Gene

ENSMUSG00000063273

Gene Name

N(alpha)-acetyltransferase 15, NatA auxiliary subunit

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51323437-51383406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51350212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 103 (G103D)

Ref Sequence

ENSEMBL: ENSMUSP00000141965 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029303
AA Change: G153D

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

SMART Domains

Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: G153D

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

unknown
Transcript: ENSMUST00000192197
AA Change: G71D

Predicted Effect

probably damaging
Transcript: ENSMUST00000192419
AA Change: G103D

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

SMART Domains

Protein: ENSMUSP00000141965
Gene: ENSMUSG00000063273
AA Change: G103D

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: G103D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: G103D

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

Meta Mutation Damage Score

0.9544

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	Het

Other mutations in Naa15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Naa15	APN	3	51,345,826 (GRCm39)	missense	probably damaging	1.00
IGL01753:Naa15	APN	3	51,350,274 (GRCm39)	missense	probably damaging	1.00
IGL01837:Naa15	APN	3	51,351,369 (GRCm39)	nonsense	probably null
IGL02619:Naa15	APN	3	51,367,552 (GRCm39)	missense	probably benign	0.03
IGL02691:Naa15	APN	3	51,358,747 (GRCm39)	missense	probably damaging	0.97
IGL02974:Naa15	APN	3	51,368,628 (GRCm39)	missense	possibly damaging	0.95
R0009:Naa15	UTSW	3	51,377,640 (GRCm39)	missense	probably damaging	1.00
R0010:Naa15	UTSW	3	51,343,634 (GRCm39)	critical splice acceptor site	probably null
R0114:Naa15	UTSW	3	51,355,859 (GRCm39)	critical splice donor site	probably null
R0411:Naa15	UTSW	3	51,373,060 (GRCm39)	missense	possibly damaging	0.81
R1348:Naa15	UTSW	3	51,373,091 (GRCm39)	missense	probably damaging	1.00
R1941:Naa15	UTSW	3	51,363,355 (GRCm39)	nonsense	probably null
R3082:Naa15	UTSW	3	51,367,471 (GRCm39)	missense	probably damaging	1.00
R4377:Naa15	UTSW	3	51,355,786 (GRCm39)	missense	possibly damaging	0.91
R4591:Naa15	UTSW	3	51,349,345 (GRCm39)	missense	probably damaging	1.00
R4980:Naa15	UTSW	3	51,366,173 (GRCm39)	critical splice donor site	probably null
R5087:Naa15	UTSW	3	51,364,706 (GRCm39)	splice site	probably null
R5139:Naa15	UTSW	3	51,351,261 (GRCm39)	missense	probably damaging	1.00
R5289:Naa15	UTSW	3	51,363,315 (GRCm39)	missense	probably damaging	1.00
R5527:Naa15	UTSW	3	51,349,368 (GRCm39)	missense	probably damaging	1.00
R5776:Naa15	UTSW	3	51,367,447 (GRCm39)	missense	probably damaging	0.96
R5909:Naa15	UTSW	3	51,367,485 (GRCm39)	missense	probably damaging	1.00
R6034:Naa15	UTSW	3	51,350,242 (GRCm39)	missense	probably damaging	0.98
R6034:Naa15	UTSW	3	51,350,242 (GRCm39)	missense	probably damaging	0.98
R6194:Naa15	UTSW	3	51,370,721 (GRCm39)	missense	probably benign	0.00
R6522:Naa15	UTSW	3	51,378,935 (GRCm39)	missense	probably damaging	1.00
R6731:Naa15	UTSW	3	51,363,294 (GRCm39)	missense	probably damaging	1.00
R6984:Naa15	UTSW	3	51,380,021 (GRCm39)	missense	probably benign	0.10
R7040:Naa15	UTSW	3	51,380,205 (GRCm39)	missense	possibly damaging	0.89
R7091:Naa15	UTSW	3	51,366,177 (GRCm39)	splice site	probably null
R7380:Naa15	UTSW	3	51,367,268 (GRCm39)	splice site	probably null
R7685:Naa15	UTSW	3	51,377,395 (GRCm39)	splice site	probably null
R7781:Naa15	UTSW	3	51,378,904 (GRCm39)	critical splice acceptor site	probably null
R7797:Naa15	UTSW	3	51,356,031 (GRCm39)	missense	probably damaging	0.99
R7836:Naa15	UTSW	3	51,370,688 (GRCm39)	nonsense	probably null
R7981:Naa15	UTSW	3	51,366,092 (GRCm39)	missense	probably damaging	0.96
R8513:Naa15	UTSW	3	51,367,444 (GRCm39)	missense	probably damaging	0.99
R8923:Naa15	UTSW	3	51,367,443 (GRCm39)	missense	probably damaging	1.00
R9159:Naa15	UTSW	3	51,358,802 (GRCm39)	missense	probably benign	0.01
R9701:Naa15	UTSW	3	51,349,370 (GRCm39)	nonsense	probably null
R9802:Naa15	UTSW	3	51,349,370 (GRCm39)	nonsense	probably null
X0020:Naa15	UTSW	3	51,377,553 (GRCm39)	missense	probably benign	0.00
X0061:Naa15	UTSW	3	51,356,022 (GRCm39)	missense	probably benign	0.11
X0061:Naa15	UTSW	3	51,356,021 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCAGAGTAATGTGATCTTCTG -3'
(R):5'- AGCAGTTCTCAGGAGCACAG -3'

Sequencing Primer
(F):5'- CTGTTTTCTTAGGACCCTGAGG -3'
(R):5'- TTCTCAGGAGCACAGGACATAAAAG -3'

Posted On

2018-03-15