Mutagenetix > Incidental Mutation

Incidental Mutation 'R4199:Naa16'

500497

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

041029-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4199 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79355871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 420 (H420Q)

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: H420Q

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

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: H420Q

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 damaging
Transcript: ENSMUST00000163486
AA Change: H386Q

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

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: H386Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	C	G	18: 36,661,048		probably benign	Het
Cbarp	G	T	10: 80,135,492	H173Q	probably damaging	Het
Ccna1	G	A	3: 55,047,315	A177V	possibly damaging	Het
Ces1f	A	G	8: 93,256,889	F497L	probably benign	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Disc1	C	T	8: 125,148,459	T556I	probably damaging	Het
Dnah3	C	T	7: 119,922,838	G4033D	probably damaging	Het
Dnmt1	A	G	9: 20,938,118	S63P	probably benign	Het
Eml2	G	A	7: 19,179,439	A121T	probably benign	Het
Eps8	T	C	6: 137,514,327	N351S	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fbxo34	T	A	14: 47,530,997	W605R	probably damaging	Het
Foxg1	T	A	12: 49,385,299	S272T	possibly damaging	Het
Gal3st3	T	A	19: 5,307,780	Y394*	probably null	Het
Gga1	A	G	15: 78,889,075	E301G	probably damaging	Het
Ifitm5	T	A	7: 140,949,236	*153Y	probably null	Het
Ighg2b	G	T	12: 113,307,287	P110Q	probably damaging	Het
Il17rb	C	T	14: 29,996,644	D494N	probably benign	Het
Irf2bp2	C	A	8: 126,591,574	A418S	probably damaging	Het
Lcn9	A	G	2: 25,824,761	T171A	probably benign	Het
Lcorl	T	C	5: 45,733,788	K408E	possibly damaging	Het
Myh14	T	A	7: 44,615,503	R1653*	probably null	Het
Nol8	T	A	13: 49,661,748	V426E	possibly damaging	Het
Olfr1357	A	T	10: 78,612,067	D191E	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Papln	C	T	12: 83,783,392	T1012I	probably null	Het
Pkd1	A	G	17: 24,570,030	T921A	probably benign	Het
Pknox1	C	A	17: 31,602,816	Q294K	probably damaging	Het
Ppp2ca	A	G	11: 52,099,101	N18S	probably benign	Het
Serpinb9d	A	G	13: 33,202,674		probably null	Het
Sfxn5	T	A	6: 85,215,742	E319V	probably benign	Het
Slc1a1	A	G	19: 28,901,452	K197R	probably benign	Het
Spef2	A	G	15: 9,667,280	F774S	probably damaging	Het
Syp	A	G	X: 7,639,927		probably null	Het
Zfp276	A	G	8: 123,267,825	T544A	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
R3884:Naa16	UTSW	14	79343262	missense	probably damaging	0.98
R4001:Naa16	UTSW	14	79343121	splice site	probably null
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'- TCGATTTTCCTAACTCAGGCAATC -3'
(R):5'- AGTAACTCCTAGAATTCTCATGCAG -3'

Sequencing Primer
(F):5'- TTTTCCTAACTCAGGCAATCACATAC -3'
(R):5'- CAGTGTTAGCCATTTGGT -3'

Posted On

2017-12-01