Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Naa16'

452679

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

043346-MU

Accession Numbers

Essential gene?

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

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79355780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 417 (Y417H)

Ref Sequence

ENSEMBL: ENSMUSP00000131268 (fasta)

Gene Model

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

AlphaFold

Q9DBB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022597
AA Change: Y451H

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

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: Y451H

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: Y417H

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

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: Y417H

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: ENSMUST00000227775

Meta Mutation Damage Score

0.5541

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss	A	T	1: 177,796,258	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,565,905	V205A	probably benign	Het
Atp1a2	A	G	1: 172,293,371	S45P	probably damaging	Het
Atp4a	A	G	7: 30,712,426	K29E	possibly damaging	Het
AU040320	T	A	4: 126,830,415	D428E	probably damaging	Het
Bend7	T	C	2: 4,763,274	L347P	probably damaging	Het
Cacna2d1	T	A	5: 15,935,039	L9*	probably null	Het
Ccdc103	A	T	11: 102,883,078	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,426,569	I88V	probably benign	Het
Cracr2a	T	C	6: 127,607,236	V86A	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dgkd	C	T	1: 87,936,332	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,596	D446E	probably benign	Het
Fam13a	T	G	6: 58,939,307	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,967,623	V226A	probably damaging	Het
Gm5499	A	T	17: 87,078,516		noncoding transcript	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 19,005,247	E271*	probably null	Het
Krt86	T	G	15: 101,476,548	V274G	probably benign	Het
Lats2	A	T	14: 57,722,735	C151S	probably benign	Het
Mapk3	A	T	7: 126,764,807	T254S	probably benign	Het
Mat2b	A	T	11: 40,682,546	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971	Y282H	probably benign	Het
Myo3b	A	G	2: 70,105,739	K108R	probably damaging	Het
Oat	A	T	7: 132,558,255	I412N	probably damaging	Het
Olfr1423	A	T	19: 12,035,908	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,202,946	V73D	probably damaging	Het
Pigv	A	T	4: 133,664,823	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,337,438	F34L	probably benign	Het
Plxnd1	A	G	6: 115,965,877	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,763	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,118,029	E119K	probably damaging	Het
Psg29	A	T	7: 17,210,534	N323I	probably damaging	Het
Rasa4	T	C	5: 136,093,162	V108A	probably benign	Het
Rbm14	A	G	19: 4,802,549		probably benign	Het
Rfc1	A	T	5: 65,277,452	V657E	probably damaging	Het
Rhcg	A	T	7: 79,600,623	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,160,160	Q1302R	probably benign	Het
Rragc	A	G	4: 123,924,852	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,741,957		probably null	Het
Sema6a	C	T	18: 47,281,343	C506Y	probably damaging	Het
Senp1	G	T	15: 98,066,531	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,858,883	E100G	unknown	Het
Slc38a11	A	T	2: 65,317,021	C371S	probably benign	Het
Snai3	G	A	8: 122,454,890	A276V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Spag6	C	T	2: 18,715,714	T99I	probably benign	Het
Spop	A	G	11: 95,485,849	I243V	possibly damaging	Het
Sra1	A	T	18: 36,667,443		probably benign	Het
Stag3	T	A	5: 138,290,223	S140T	possibly damaging	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,207,872	A868G	probably benign	Het
Tead2	A	G	7: 45,220,742		probably benign	Het
Tmem53	C	A	4: 117,268,472	H261N	probably damaging	Het
Ube4a	A	T	9: 44,933,329	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,600,806	E309G	probably damaging	Het
Wrn	T	C	8: 33,268,778	S1026G	probably benign	Het
Zfp646	G	A	7: 127,885,454	A1760T	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
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
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'- TGAATTTTGCAGCCAGGAGC -3'
(R):5'- GATACAATCATGTCAAACTGGAACC -3'

Sequencing Primer
(F):5'- GCCATAGTTAGAACACAGATTAATGG -3'
(R):5'- TGTCAAACTGGAACCCATTTTTATAC -3'

Posted On

2017-01-03