Mutagenetix > Incidental Mutation

Incidental Mutation 'R3884:Naa16'

310605

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

040797-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79343262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 604 (K604R)

Ref Sequence

ENSEMBL: ENSMUSP00000022597 (fasta)

Gene Model

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

AlphaFold

Q9DBB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022597
AA Change: K604R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: K604R

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

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020

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

noncoding transcript
Transcript: ENSMUST00000171928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227775

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	A	15: 98,597,174	S719F	probably benign	Het
Als2	A	G	1: 59,185,568	V998A	probably damaging	Het
Ankmy1	T	G	1: 92,886,152	E435A	probably damaging	Het
Ankrd52	A	G	10: 128,388,955	E820G	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp6v0d2	T	A	4: 19,910,677	D71V	probably damaging	Het
C3	T	C	17: 57,217,173		probably null	Het
Cnot7	A	T	8: 40,510,130	M1K	probably null	Het
Cntn2	A	G	1: 132,528,939	V123A	probably damaging	Het
Depdc5	G	A	5: 32,944,077	E904K	probably damaging	Het
Dip2c	G	T	13: 9,551,858	L284F	probably damaging	Het
Epb41l3	C	T	17: 69,274,116	R552*	probably null	Het
Gabra4	T	C	5: 71,657,257	D40G	probably benign	Het
Gm9925	T	C	18: 74,065,328		probably benign	Het
Igf2r	T	A	17: 12,709,468	Q996L	probably benign	Het
Klk1b16	T	C	7: 44,139,463	V40A	possibly damaging	Het
Lin9	G	T	1: 180,688,065	G427*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Lyg2	C	G	1: 37,910,069	A71P	probably damaging	Het
Mycbp2	A	C	14: 103,295,250	L390V	probably damaging	Het
Myl3	A	G	9: 110,767,959	H129R	probably damaging	Het
Nedd4	C	T	9: 72,725,077	P398S	probably benign	Het
Neurl1a	T	C	19: 47,253,446	V309A	probably benign	Het
Olfr714	A	T	7: 107,073,903	Q25L	possibly damaging	Het
Olfr800	T	C	10: 129,660,538	V244A	probably damaging	Het
Pacs1	T	C	19: 5,155,759	Y301C	probably damaging	Het
Parl	A	T	16: 20,283,012	M90K	probably damaging	Het
Plxnc1	A	T	10: 94,910,687		probably null	Het
Prkd2	C	A	7: 16,853,255	S375R	probably benign	Het
Prss44	T	C	9: 110,814,696	I136T	possibly damaging	Het
Rock1	G	A	18: 10,122,768	T351I	probably damaging	Het
Selenon	T	C	4: 134,539,770	N507S	possibly damaging	Het
Slc38a7	C	T	8: 95,846,181	G141R	probably damaging	Het
Trpm4	C	T	7: 45,321,998		probably null	Het
Ttn	T	A	2: 76,730,361	N27486I	probably damaging	Het
Xylb	T	C	9: 119,380,687	M346T	probably damaging	Het
Zbtb17	T	C	4: 141,464,575	F306L	probably damaging	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
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
R9068:Naa16	UTSW	14	79374849	missense	probably benign	0.18
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'- TATGGCCAGAACAGAATCAAATAGC -3'
(R):5'- CACAGAGGCAGAGCTTAGTTG -3'

Sequencing Primer
(F):5'- GACCACTGGTAActtcttc -3'
(R):5'- CCATGTTTTGGCTAGTCACAAAC -3'

Posted On

2015-04-17