Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01300:Naa30'

75239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa30

Ensembl Gene

ENSMUSG00000036282

Gene Name

N(alpha)-acetyltransferase 30, NatC catalytic subunit

Synonyms

5730533P17Rik, 4930487N19Rik, Nat12

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01300

Quality Score

Status

Chromosome

Chromosomal Location

49409703-49428346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49410714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 214 (T214M)

Ref Sequence

ENSEMBL: ENSMUSP00000121679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037362] [ENSMUST00000153488]

AlphaFold

Q8CES0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037362
AA Change: T214M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041450
Gene: ENSMUSG00000036282
AA Change: T214M

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	37	54	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	108	113	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:Acetyltransf_8	225	351	2.6e-8	PFAM
Pfam:Acetyltransf_10	246	342	5.1e-8	PFAM
Pfam:Acetyltransf_7	257	344	5e-11	PFAM
Pfam:Acetyltransf_1	262	343	3.1e-17	PFAM
Pfam:FR47	276	351	4.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138478

Predicted Effect

probably damaging
Transcript: ENSMUST00000153488
AA Change: T214M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121679
Gene: ENSMUSG00000036282
AA Change: T214M

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	37	54	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	108	113	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:Acetyltransf_10	227	340	1.6e-10	PFAM
Pfam:Acetyltransf_7	254	342	1.6e-11	PFAM
Pfam:Acetyltransf_1	260	341	1.3e-18	PFAM
Pfam:FR47	274	349	2.7e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa8	A	G	14: 33,821,700 (GRCm39)	D300G	probably benign	Het
Cacna1g	T	C	11: 94,324,738 (GRCm39)	H1161R	probably benign	Het
Col14a1	G	A	15: 55,331,372 (GRCm39)	R1471Q	unknown	Het
Gm14496	A	T	2: 181,642,753 (GRCm39)	E808V	probably damaging	Het
Gm1968	T	C	16: 29,781,038 (GRCm39)		noncoding transcript	Het
Gzmb	G	A	14: 56,497,653 (GRCm39)	R196C	probably benign	Het
Hkdc1	A	G	10: 62,231,040 (GRCm39)		probably benign	Het
Itgal	T	A	7: 126,913,290 (GRCm39)	V629E	probably damaging	Het
Jak2	T	A	19: 29,287,083 (GRCm39)	Y1050N	probably damaging	Het
Lrrc69	C	T	4: 14,773,663 (GRCm39)		probably benign	Het
Mmd	T	C	11: 90,140,537 (GRCm39)	M1T	probably null	Het
Myh6	A	G	14: 55,200,548 (GRCm39)	V191A	possibly damaging	Het
Mynn	A	G	3: 30,667,755 (GRCm39)	N485S	probably damaging	Het
Ncoa3	A	T	2: 165,910,381 (GRCm39)	T1265S	probably benign	Het
Or10al2	C	A	17: 37,983,778 (GRCm39)	T288K	probably damaging	Het
Or1j10	T	C	2: 36,267,054 (GRCm39)	S89P	probably benign	Het
Prex1	A	G	2: 166,480,327 (GRCm39)	C138R	possibly damaging	Het
Prom2	A	T	2: 127,377,009 (GRCm39)	L535H	probably benign	Het
Pros1	T	C	16: 62,734,174 (GRCm39)	F327L	possibly damaging	Het
Ros1	A	G	10: 51,977,809 (GRCm39)	M1479T	probably benign	Het
Scn9a	G	A	2: 66,318,397 (GRCm39)	Q1465*	probably null	Het
Serpinb3b	A	G	1: 107,083,573 (GRCm39)		probably benign	Het
Sipa1l3	G	A	7: 29,099,253 (GRCm39)	Q339*	probably null	Het
Slc34a2	A	C	5: 53,225,469 (GRCm39)		probably null	Het
Smc3	T	A	19: 53,630,283 (GRCm39)		probably benign	Het
Tmem30a	A	G	9: 79,682,382 (GRCm39)		probably null	Het
Trappc11	A	T	8: 47,954,903 (GRCm39)	D878E	probably benign	Het
Trrap	C	T	5: 144,741,628 (GRCm39)	T1325M	probably damaging	Het
Ttc12	A	T	9: 49,359,222 (GRCm39)		probably benign	Het
Vmn1r237	T	A	17: 21,534,337 (GRCm39)	I20N	probably damaging	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vmn2r74	A	G	7: 85,606,414 (GRCm39)	Y311H	probably benign	Het
Vnn3	T	A	10: 23,740,263 (GRCm39)	F189I	possibly damaging	Het

Other mutations in Naa30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03018:Naa30	APN	14	49,410,697 (GRCm39)	missense	probably benign	0.05
R0536:Naa30	UTSW	14	49,410,534 (GRCm39)	missense	possibly damaging	0.45
R1989:Naa30	UTSW	14	49,415,597 (GRCm39)	nonsense	probably null
R2060:Naa30	UTSW	14	49,410,556 (GRCm39)	missense	possibly damaging	0.69
R3703:Naa30	UTSW	14	49,425,059 (GRCm39)	missense	probably benign	0.05
R5411:Naa30	UTSW	14	49,425,008 (GRCm39)	missense	probably damaging	1.00
R7453:Naa30	UTSW	14	49,425,144 (GRCm39)	makesense	probably null
R8157:Naa30	UTSW	14	49,410,865 (GRCm39)	missense	probably benign
R8501:Naa30	UTSW	14	49,410,353 (GRCm39)	missense	possibly damaging	0.95
R8790:Naa30	UTSW	14	49,418,208 (GRCm39)	missense	probably benign	0.02
R8926:Naa30	UTSW	14	49,425,059 (GRCm39)	missense	probably benign	0.05

Posted On

2013-10-07