Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Naa30'

258628

Institutional Source

Beutler Lab

Gene Symbol

Naa30

Ensembl Gene

ENSMUSG00000036282

Gene Name

N(alpha)-acetyltransferase 30, NatC catalytic subunit

Synonyms

5730533P17Rik, 4930487N19Rik, Nat12

MMRRC Submission

040696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49409703-49428346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49425059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 337 (N337S)

Ref Sequence

ENSEMBL: ENSMUSP00000121679 (fasta)

Gene Model

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

AlphaFold

Q8CES0

Predicted Effect

probably benign
Transcript: ENSMUST00000037362
AA Change: N339S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041450
Gene: ENSMUSG00000036282
AA Change: N339S

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

noncoding transcript
Transcript: ENSMUST00000134984

Predicted Effect

probably benign
Transcript: ENSMUST00000136995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138478

Predicted Effect

probably benign
Transcript: ENSMUST00000153488
AA Change: N337S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121679
Gene: ENSMUSG00000036282
AA Change: N337S

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

Meta Mutation Damage Score

0.1313

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	C	T	8: 77,985,685 (GRCm39)		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brf1	T	C	12: 112,932,991 (GRCm39)		probably null	Het
Btnl7-ps	T	A	17: 34,752,941 (GRCm39)		noncoding transcript	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,682 (GRCm39)		probably null	Het
Csrp2	G	A	10: 110,773,735 (GRCm39)		probably benign	Het
Ctla2a	T	A	13: 61,083,821 (GRCm39)	D37V	probably damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dxo	T	C	17: 35,057,745 (GRCm39)		probably benign	Het
Edil3	A	T	13: 89,325,417 (GRCm39)	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hnrnpul2	A	G	19: 8,801,773 (GRCm39)	E327G	probably damaging	Het
Ifi207	A	T	1: 173,555,029 (GRCm39)	Y884*	probably null	Het
Ifi47	T	C	11: 48,986,352 (GRCm39)	S40P	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mug1	C	T	6: 121,865,515 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,080,427 (GRCm39)	I1214V	probably benign	Het
Nap1l3	A	T	X: 121,305,221 (GRCm39)	I499N	possibly damaging	Het
Nfat5	T	A	8: 108,078,053 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nt5c3	A	G	6: 56,860,652 (GRCm39)		probably benign	Het
Pklr	C	T	3: 89,050,008 (GRCm39)	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,538,260 (GRCm39)	R457C	probably damaging	Het
Rab1a	T	G	11: 20,174,506 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,638,972 (GRCm39)	D278E	probably benign	Het
Rdh8	C	T	9: 20,734,629 (GRCm39)	P99S	probably damaging	Het
Snx9	T	A	17: 5,978,475 (GRCm39)		probably null	Het
Spns3	C	T	11: 72,390,356 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,774,486 (GRCm39)	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,394,729 (GRCm39)	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tmprss15	T	C	16: 78,851,030 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Trdmt1	T	A	2: 13,526,108 (GRCm39)	Q170L	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Zfp616	G	A	11: 73,974,145 (GRCm39)	W138*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het

Other mutations in Naa30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Naa30	APN	14	49,410,714 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GTTAGAGGTCAGGCTAAATAGTTTC -3'
(R):5'- CCACCTGCAAAGCAATTCTG -3'

Sequencing Primer
(F):5'- TGATGACATTTTCTGTATGCCAG -3'
(R):5'- CAGCCACAGTTTAAGTCG -3'

Posted On

2015-01-23