Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01025:Naa16'

60309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79384756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000022597 (fasta)

Gene Model

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

AlphaFold

Q9DBB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022597
AA Change: T48A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: T48A

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

possibly damaging
Transcript: ENSMUST00000163486
AA Change: T14A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: T14A

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: ENSMUST00000165337

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,046,280	H1218Q	possibly damaging	Het
Acap3	G	A	4: 155,902,219	V335M	probably damaging	Het
Apex1	C	T	14: 50,926,254	L113F	possibly damaging	Het
C530008M17Rik	A	G	5: 76,658,074		probably benign	Het
Cd33	C	T	7: 43,532,905	V39M	probably damaging	Het
Chek2	A	G	5: 110,848,670	D166G	probably damaging	Het
Col2a1	T	C	15: 97,976,173	K1376R	unknown	Het
Cpd	C	T	11: 76,795,613	R963H	probably damaging	Het
Cyp2c67	A	C	19: 39,639,932	Y189*	probably null	Het
Dock6	T	C	9: 21,811,807	E1606G	possibly damaging	Het
Dusp4	A	T	8: 34,818,512	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789	I600T	probably damaging	Het
Fer1l4	A	G	2: 156,052,185	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,250,359	I645T	probably damaging	Het
Fxr2	A	G	11: 69,643,887	H198R	probably damaging	Het
Fzd7	T	C	1: 59,484,380	V474A	probably damaging	Het
Gm10295	T	A	7: 71,350,658	D58V	unknown	Het
Gm13119	T	A	4: 144,363,377	L329Q	probably damaging	Het
Hdlbp	T	C	1: 93,430,169	I337V	probably benign	Het
Hydin	T	C	8: 110,326,401	V235A	probably benign	Het
Igfbp4	C	T	11: 99,048,243	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,296,391	V490A	probably damaging	Het
Kcnj13	T	G	1: 87,386,978	D174A	probably benign	Het
Krt7	T	A	15: 101,423,421	L373Q	probably benign	Het
Lama3	G	A	18: 12,481,037	V1288I	probably benign	Het
Mroh9	T	C	1: 163,047,866	D488G	possibly damaging	Het
Myh7	T	C	14: 54,979,537	E1121G	probably damaging	Het
Myom1	A	G	17: 71,077,917	N768D	probably damaging	Het
Naglu	C	T	11: 101,073,947	P287S	probably benign	Het
Nipbl	A	G	15: 8,350,455	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,551,887	M755K	probably benign	Het
Nlrp4e	T	C	7: 23,353,161		probably benign	Het
Nt5dc1	C	T	10: 34,407,557	A79T	possibly damaging	Het
Olfr432	T	C	1: 174,050,685	F104S	probably damaging	Het
Olfr775	A	T	10: 129,250,740	I69F	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,733		probably benign	Het
Otof	A	G	5: 30,384,253	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,613,132	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,209,176	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,108,526	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,878,629		probably null	Het
Prpf39	T	C	12: 65,042,481		probably benign	Het
Rtn3	A	G	19: 7,483,041	S15P	unknown	Het
Slc22a28	G	T	19: 8,116,908		probably benign	Het
Slc4a5	T	A	6: 83,262,533	L143Q	probably damaging	Het
Sox17	T	C	1: 4,492,203	D130G	possibly damaging	Het
Stag1	A	G	9: 100,951,657	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,242,535	D53N	probably damaging	Het
Trim33	G	A	3: 103,353,918		probably benign	Het
Ttn	A	G	2: 76,799,224	I14291T	probably damaging	Het
Ttn	A	G	2: 76,789,525	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,325,884	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,064,260	E2089G	probably damaging	Het
Zhx1	T	C	15: 58,054,679	D57G	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
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
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

Posted On

2013-07-11