Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Naa16'

689387

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79374849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 233 (M233K)

Ref Sequence

ENSEMBL: ENSMUSP00000022597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022597] [ENSMUST00000163486] [ENSMUST00000169500]

AlphaFold

Q9DBB4

Predicted Effect

probably benign
Transcript: ENSMUST00000022597
AA Change: M233K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: M233K

Domain	Start	End	E-Value	Type
TPR	46	79	2.99e1	SMART
TPR	80	113	2.98e-3	SMART
Blast:TPR	224	257	1e-10	BLAST
TPR	374	407	9.96e0	SMART
TPR	408	441	7.47e0	SMART
low complexity region	616	633	N/A	INTRINSIC
Blast:TPR	672	705	3e-12	BLAST
low complexity region	830	841	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163486
AA Change: M199K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: M199K

Domain	Start	End	E-Value	Type
TPR	12	45	2.99e1	SMART
TPR	46	79	2.98e-3	SMART
Blast:TPR	190	223	3e-10	BLAST
TPR	340	373	9.96e0	SMART
TPR	374	407	7.47e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169500

SMART Domains

Protein: ENSMUSP00000127298
Gene: ENSMUSG00000022020

Domain	Start	End	E-Value	Type
PDB:4KVO\|D	1	46	1e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,829	I770V	probably benign	Het
Actr10	T	C	12: 70,942,299	L64S	probably damaging	Het
Adam22	T	C	5: 8,127,343	T589A	probably benign	Het
Akr1b7	T	C	6: 34,419,042	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,381,981	H277Y	probably damaging	Het
Btbd11	C	A	10: 85,387,898	N190K	unknown	Het
Cc2d1b	T	A	4: 108,624,865	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,953,387		probably benign	Het
Clec3a	A	G	8: 114,425,635	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,512,881	L324P	probably damaging	Het
Cspp1	T	C	1: 10,077,244		probably null	Het
Cwf19l1	C	T	19: 44,135,835		probably benign	Het
Cyp26b1	G	A	6: 84,574,397	T470I	probably damaging	Het
Dedd2	A	G	7: 25,217,667	V110A	probably benign	Het
Dnah8	A	G	17: 30,756,755	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,432,938	Y286C	probably damaging	Het
Efna2	C	T	10: 80,188,690	P177L	probably damaging	Het
Fbxo46	A	G	7: 19,135,400		probably benign	Het
Gdpd5	A	T	7: 99,458,841	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,001,425	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,148,246	E157*	probably null	Het
Grk4	T	C	5: 34,748,309	I466T		Het
Hic1	A	G	11: 75,169,506	M5T	unknown	Het
Hmcn2	C	A	2: 31,413,673	N3058K	probably benign	Het
Htr5a	T	A	5: 27,850,801	H263Q	probably benign	Het
Lrrc7	T	C	3: 158,240,501	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,754,076		probably benign	Het
Napsa	A	T	7: 44,585,799	D336V	probably damaging	Het
Neurod1	T	A	2: 79,454,874	N55I	possibly damaging	Het
Olfr1220	A	T	2: 89,097,025	C301S	probably benign	Het
Olfr1431	T	C	19: 12,210,339	F258L	probably damaging	Het
Olfr874	T	A	9: 37,746,667	C178S	probably damaging	Het
Olfr975	A	T	9: 39,950,791		probably benign	Het
Pcdha8	G	T	18: 36,994,270	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Pigr	G	A	1: 130,846,494	V404M	probably damaging	Het
Plch1	G	A	3: 63,704,615	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,209,396	F583L	probably benign	Het
Rit2	A	T	18: 30,975,415	D172E	possibly damaging	Het
Skint4	C	T	4: 112,165,735	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,670,964	V353A	probably benign	Het
Slit3	A	G	11: 35,684,090	D1077G	probably damaging	Het
Sun2	A	G	15: 79,728,051	F478L	probably benign	Het
Syt6	C	A	3: 103,587,509	C263*	probably null	Het
Tfpi	C	A	2: 84,442,891	L229F	unknown	Het
Tmem131l	A	T	3: 83,910,468	C1242S	probably benign	Het
Ttc3	T	A	16: 94,403,360	W280R	probably damaging	Het
Uncx	A	G	5: 139,546,818	K213E	possibly damaging	Het
Usp24	T	C	4: 106,375,678	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,893,979	I151F	probably damaging	Het
Vmn2r50	G	T	7: 10,038,134	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,648,829		probably benign	Het
Wdfy3	A	T	5: 101,852,585	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,200,945	M655V	probably benign	Het
Zc3h3	C	T	15: 75,839,650	A321T	probably benign	Het
Zeb2	T	A	2: 45,110,028	R65W	possibly damaging	Het
Zfp541	A	G	7: 16,078,451	E343G	probably damaging	Het
Zfp775	C	A	6: 48,620,217	R342S	probably damaging	Het
Zwilch	A	G	9: 64,168,660	F27L	probably benign	Het

Other mutations in Naa16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Naa16	APN	14	79355729	missense	probably damaging	1.00
IGL01025:Naa16	APN	14	79384756	missense	probably damaging	1.00
IGL01155:Naa16	APN	14	79384715	missense	probably damaging	0.98
IGL01335:Naa16	APN	14	79345116	splice site	probably benign
IGL01981:Naa16	APN	14	79381516	missense	probably benign	0.05
IGL02230:Naa16	APN	14	79377361	splice site	probably benign
IGL02313:Naa16	APN	14	79384668	missense	probably damaging	1.00
IGL02418:Naa16	APN	14	79383366	missense	probably damaging	1.00
IGL02544:Naa16	APN	14	79335820	missense	probably damaging	1.00
IGL03051:Naa16	APN	14	79369082	missense	probably benign	0.01
IGL03064:Naa16	APN	14	79339628	missense	probably damaging	0.98
IGL03205:Naa16	APN	14	79356512	missense	possibly damaging	0.89
PIT4508001:Naa16	UTSW	14	79369087	missense	probably benign	0.15
R0651:Naa16	UTSW	14	79351392	missense	probably damaging	1.00
R1429:Naa16	UTSW	14	79359527	missense	probably benign	0.01
R1674:Naa16	UTSW	14	79387057	start codon destroyed	probably null	0.65
R1693:Naa16	UTSW	14	79351456	missense	probably damaging	1.00
R1874:Naa16	UTSW	14	79355743	missense	possibly damaging	0.62
R1992:Naa16	UTSW	14	79356491	missense	probably damaging	1.00
R2015:Naa16	UTSW	14	79345059	missense	probably damaging	1.00
R2391:Naa16	UTSW	14	79370049	missense	probably benign	0.16
R2847:Naa16	UTSW	14	79335883	missense	probably damaging	1.00
R2848:Naa16	UTSW	14	79335883	missense	probably damaging	1.00
R2877:Naa16	UTSW	14	79343298	missense	probably benign	0.00
R3884:Naa16	UTSW	14	79343262	missense	probably damaging	0.98
R4001:Naa16	UTSW	14	79343121	splice site	probably null
R4199:Naa16	UTSW	14	79355871	missense	probably damaging	1.00
R4638:Naa16	UTSW	14	79340033	splice site	probably null
R4676:Naa16	UTSW	14	79336348	unclassified	probably benign
R4690:Naa16	UTSW	14	79345057	missense	probably damaging	1.00
R4952:Naa16	UTSW	14	79345085	missense	probably damaging	1.00
R5087:Naa16	UTSW	14	79377415	missense	possibly damaging	0.68
R5104:Naa16	UTSW	14	79384700	nonsense	probably null
R5729:Naa16	UTSW	14	79355780	missense	probably damaging	1.00
R6178:Naa16	UTSW	14	79383340	missense	possibly damaging	0.93
R6960:Naa16	UTSW	14	79359471	missense	possibly damaging	0.65
R7794:Naa16	UTSW	14	79377494	missense	probably damaging	1.00
R7936:Naa16	UTSW	14	79341046	missense	possibly damaging	0.47
R8356:Naa16	UTSW	14	79359475	missense	probably benign	0.00
R8456:Naa16	UTSW	14	79359475	missense	probably benign	0.00
R8892:Naa16	UTSW	14	79390576	missense	probably benign	0.32
R8931:Naa16	UTSW	14	79344955	missense	probably damaging	1.00
R9010:Naa16	UTSW	14	79370042	missense	probably benign	0.01
R9360:Naa16	UTSW	14	79356503	missense	probably benign	0.05
R9688:Naa16	UTSW	14	79335869	nonsense	probably null
X0064:Naa16	UTSW	14	79351389	missense	probably damaging	1.00
Z1177:Naa16	UTSW	14	79344979	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTAACTTTCACTATGCTTCAGAAG -3'
(R):5'- TAGCTATCGCCAGGAGGACAG -3'

Sequencing Primer
(F):5'- CTTCAGAAGCTGGCTAAGGAAGTG -3'
(R):5'- AGTGGTTCATTTCTGAAGACAAAC -3'

Posted On

2021-11-19