Mutagenetix > Incidental Mutation

Incidental Mutation 'R2391:Naa16'

247774

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

040359-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79370049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 287 (H287L)

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: H287L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: H287L

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: H253L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: H253L

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

Meta Mutation Damage Score

0.1184

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	A	7: 116,104,226	D24E	probably damaging	Het
Abca4	A	G	3: 122,158,422	H689R	probably benign	Het
Acss3	T	G	10: 107,123,487	T33P	probably benign	Het
BC005537	T	A	13: 24,809,915	Y124*	probably null	Het
Capn2	T	C	1: 182,478,609	D524G	probably benign	Het
Catsperb	A	G	12: 101,624,706	Y1011C	probably damaging	Het
Cdk18	G	T	1: 132,115,474	Q438K	probably benign	Het
Ckap5	A	G	2: 91,585,869	M1047V	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dmbt1	T	A	7: 131,106,468	I1306N	probably damaging	Het
Emp2	A	T	16: 10,284,588	I120N	probably damaging	Het
Gm2888	A	T	14: 3,037,656	D216V	possibly damaging	Het
Odf3l2	A	T	10: 79,645,650	V15E	probably benign	Het
Olfm5	A	G	7: 104,160,834	S107P	probably benign	Het
Olfr1419	G	T	19: 11,870,816	Y133*	probably null	Het
Olfr421-ps1	T	C	1: 174,152,098	V194A	probably benign	Het
Olfr78	C	A	7: 102,742,374	V210F	possibly damaging	Het
Ptpn2	A	T	18: 67,675,889		probably null	Het
Serpinb8	A	G	1: 107,607,069	D290G	probably damaging	Het
Sfmbt2	T	C	2: 10,445,693	Y260H	possibly damaging	Het
Slc6a20a	A	T	9: 123,664,621	V65E	probably damaging	Het
Spon1	C	T	7: 113,886,847	T210M	probably damaging	Het
Sugp1	T	C	8: 70,059,411		probably null	Het
Tas2r143	C	A	6: 42,400,876	H213Q	probably damaging	Het
Terf1	C	A	1: 15,805,739	S21*	probably null	Het
Trim12a	T	C	7: 104,306,931	E134G	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Tssk5	T	C	15: 76,374,551	Y45C	probably benign	Het
Usp29	T	A	7: 6,963,771		probably null	Het
Wdfy4	A	T	14: 33,162,807	M46K	possibly damaging	Het
Wdr90	G	A	17: 25,851,455	P1104L	probably damaging	Het
Znhit6	T	C	3: 145,594,658	S230P	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
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
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'- GCGTGCTGTATCTCAATCAGG -3'
(R):5'- AGGGTGATGATTTCCTGATTACAG -3'

Sequencing Primer
(F):5'- GTGCTGTATCTCAATCAGGAGAATAG -3'
(R):5'- CCTGATTACAGTATTTTTACCACCAC -3'

Posted On

2014-11-11