Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00551:Naa16'

13634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

1300019C06Rik, Narg1l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL00551

Quality Score

Status

Chromosome

Chromosomal Location

79571947-79628228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79593169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 468 (F468L)

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: F468L

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

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: F468L

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: F434L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: F434L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	C	T	7: 101,229,776 (GRCm39)	C41Y	probably damaging	Het
Btk	A	G	X: 133,474,683 (GRCm39)	Y42H	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Ccr5	T	C	9: 123,924,625 (GRCm39)	I76T	probably damaging	Het
Chd3	A	G	11: 69,237,455 (GRCm39)	V1913A	probably damaging	Het
Dmxl2	A	G	9: 54,358,122 (GRCm39)	Y526H	probably damaging	Het
Dnah8	A	T	17: 30,882,452 (GRCm39)	K675*	probably null	Het
Eif2b1	A	G	5: 124,714,932 (GRCm39)	F115L	probably damaging	Het
Erlin1	T	C	19: 44,047,585 (GRCm39)	D112G	probably damaging	Het
Fabp12	A	G	3: 10,311,115 (GRCm39)		probably benign	Het
Fam47c	A	G	X: 77,782,060 (GRCm39)	E214G	probably damaging	Het
Fkbp5	G	T	17: 28,620,020 (GRCm39)		probably benign	Het
H1f2	C	A	13: 23,922,828 (GRCm39)		probably benign	Het
Kidins220	G	T	12: 25,088,559 (GRCm39)		probably benign	Het
Limd2	T	C	11: 106,050,031 (GRCm39)	E15G	probably benign	Het
Mga	T	A	2: 119,750,295 (GRCm39)	C696S	possibly damaging	Het
Ndufaf1	A	G	2: 119,490,950 (GRCm39)	S37P	probably damaging	Het
Phrf1	A	G	7: 140,838,790 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,819 (GRCm39)	T228A	probably benign	Het
Rfc1	A	T	5: 65,453,352 (GRCm39)	F265L	probably benign	Het
Selenos	A	G	7: 65,736,942 (GRCm39)	E137G	probably benign	Het
Tars1	T	C	15: 11,388,307 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,698,390 (GRCm39)	I44T	probably benign	Het
Usp26	A	G	X: 50,846,182 (GRCm39)	V31A	probably benign	Het

Other mutations in Naa16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Naa16	APN	14	79,622,196 (GRCm39)	missense	probably damaging	1.00
IGL01155:Naa16	APN	14	79,622,155 (GRCm39)	missense	probably damaging	0.98
IGL01335:Naa16	APN	14	79,582,556 (GRCm39)	splice site	probably benign
IGL01981:Naa16	APN	14	79,618,956 (GRCm39)	missense	probably benign	0.05
IGL02230:Naa16	APN	14	79,614,801 (GRCm39)	splice site	probably benign
IGL02313:Naa16	APN	14	79,622,108 (GRCm39)	missense	probably damaging	1.00
IGL02418:Naa16	APN	14	79,620,806 (GRCm39)	missense	probably damaging	1.00
IGL02544:Naa16	APN	14	79,573,260 (GRCm39)	missense	probably damaging	1.00
IGL03051:Naa16	APN	14	79,606,522 (GRCm39)	missense	probably benign	0.01
IGL03064:Naa16	APN	14	79,577,068 (GRCm39)	missense	probably damaging	0.98
IGL03205:Naa16	APN	14	79,593,952 (GRCm39)	missense	possibly damaging	0.89
PIT4508001:Naa16	UTSW	14	79,606,527 (GRCm39)	missense	probably benign	0.15
R0651:Naa16	UTSW	14	79,588,832 (GRCm39)	missense	probably damaging	1.00
R1429:Naa16	UTSW	14	79,596,967 (GRCm39)	missense	probably benign	0.01
R1674:Naa16	UTSW	14	79,624,497 (GRCm39)	start codon destroyed	probably null	0.65
R1693:Naa16	UTSW	14	79,588,896 (GRCm39)	missense	probably damaging	1.00
R1874:Naa16	UTSW	14	79,593,183 (GRCm39)	missense	possibly damaging	0.62
R1992:Naa16	UTSW	14	79,593,931 (GRCm39)	missense	probably damaging	1.00
R2015:Naa16	UTSW	14	79,582,499 (GRCm39)	missense	probably damaging	1.00
R2391:Naa16	UTSW	14	79,607,489 (GRCm39)	missense	probably benign	0.16
R2847:Naa16	UTSW	14	79,573,323 (GRCm39)	missense	probably damaging	1.00
R2848:Naa16	UTSW	14	79,573,323 (GRCm39)	missense	probably damaging	1.00
R2877:Naa16	UTSW	14	79,580,738 (GRCm39)	missense	probably benign	0.00
R3884:Naa16	UTSW	14	79,580,702 (GRCm39)	missense	probably damaging	0.98
R4001:Naa16	UTSW	14	79,580,561 (GRCm39)	splice site	probably null
R4199:Naa16	UTSW	14	79,593,311 (GRCm39)	missense	probably damaging	1.00
R4638:Naa16	UTSW	14	79,577,473 (GRCm39)	splice site	probably null
R4676:Naa16	UTSW	14	79,573,788 (GRCm39)	unclassified	probably benign
R4690:Naa16	UTSW	14	79,582,497 (GRCm39)	missense	probably damaging	1.00
R4952:Naa16	UTSW	14	79,582,525 (GRCm39)	missense	probably damaging	1.00
R5087:Naa16	UTSW	14	79,614,855 (GRCm39)	missense	possibly damaging	0.68
R5104:Naa16	UTSW	14	79,622,140 (GRCm39)	nonsense	probably null
R5729:Naa16	UTSW	14	79,593,220 (GRCm39)	missense	probably damaging	1.00
R6178:Naa16	UTSW	14	79,620,780 (GRCm39)	missense	possibly damaging	0.93
R6960:Naa16	UTSW	14	79,596,911 (GRCm39)	missense	possibly damaging	0.65
R7794:Naa16	UTSW	14	79,614,934 (GRCm39)	missense	probably damaging	1.00
R7936:Naa16	UTSW	14	79,578,486 (GRCm39)	missense	possibly damaging	0.47
R8356:Naa16	UTSW	14	79,596,915 (GRCm39)	missense	probably benign	0.00
R8456:Naa16	UTSW	14	79,596,915 (GRCm39)	missense	probably benign	0.00
R8892:Naa16	UTSW	14	79,628,016 (GRCm39)	missense	probably benign	0.32
R8931:Naa16	UTSW	14	79,582,395 (GRCm39)	missense	probably damaging	1.00
R9010:Naa16	UTSW	14	79,607,482 (GRCm39)	missense	probably benign	0.01
R9068:Naa16	UTSW	14	79,612,289 (GRCm39)	missense	probably benign	0.18
R9360:Naa16	UTSW	14	79,593,943 (GRCm39)	missense	probably benign	0.05
R9688:Naa16	UTSW	14	79,573,309 (GRCm39)	nonsense	probably null
X0064:Naa16	UTSW	14	79,588,829 (GRCm39)	missense	probably damaging	1.00
Z1177:Naa16	UTSW	14	79,582,419 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06