Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Naa30'

501031

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

042980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49409703-49428346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49425008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 320 (V320A)

Ref Sequence

ENSEMBL: ENSMUSP00000121679 (fasta)

Gene Model

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

AlphaFold

Q8CES0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037362
AA Change: V322A

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

SMART Domains

Protein: ENSMUSP00000041450
Gene: ENSMUSG00000036282
AA Change: V322A

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 damaging
Transcript: ENSMUST00000153488
AA Change: V320A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121679
Gene: ENSMUSG00000036282
AA Change: V320A

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,493,946 (GRCm39)	V392F	probably damaging	Het
Ache	C	T	5: 137,288,326 (GRCm39)	P11S	possibly damaging	Het
Ache	T	A	5: 137,288,692 (GRCm39)		probably null	Het
Acoxl	A	T	2: 127,696,821 (GRCm39)	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,306,650 (GRCm39)		probably null	Het
Adar	T	A	3: 89,646,519 (GRCm39)	F45I	probably benign	Het
Adgrf4	A	C	17: 42,978,104 (GRCm39)	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,215,627 (GRCm39)	I96F	probably benign	Het
Brsk2	T	C	7: 141,554,594 (GRCm39)	M653T	probably benign	Het
Cacna1s	G	T	1: 136,033,549 (GRCm39)	V1275L	probably benign	Het
Ces3b	T	C	8: 105,815,264 (GRCm39)	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,312,969 (GRCm39)	I281N	probably damaging	Het
Col10a1	A	G	10: 34,270,553 (GRCm39)	E175G	probably damaging	Het
Col27a1	T	C	4: 63,142,902 (GRCm39)	S197P	probably damaging	Het
Csmd1	T	A	8: 15,960,471 (GRCm39)	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,091,914 (GRCm39)	E443G	probably damaging	Het
Dhx9	G	T	1: 153,356,969 (GRCm39)	S93R	probably benign	Het
Efcab8	A	G	2: 153,625,676 (GRCm39)	H112R	probably damaging	Het
Eif3d	A	T	15: 77,843,887 (GRCm39)	N486K	probably damaging	Het
Esp8	C	T	17: 40,840,909 (GRCm39)	R57*	probably null	Het
Eya3	A	T	4: 132,417,090 (GRCm39)	I130F	probably damaging	Het
Fat2	G	T	11: 55,143,052 (GRCm39)	L4266I	probably benign	Het
Fras1	T	A	5: 96,793,019 (GRCm39)	D983E	probably benign	Het
Gcc2	T	C	10: 58,106,791 (GRCm39)	S640P	probably damaging	Het
Gys2	C	T	6: 142,394,147 (GRCm39)	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,935,026 (GRCm39)	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,458,403 (GRCm39)	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,027,510 (GRCm39)	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,759,782 (GRCm39)	H722L	probably damaging	Het
Luzp1	C	A	4: 136,270,653 (GRCm39)	Q959K	possibly damaging	Het
Mep1b	T	A	18: 21,219,306 (GRCm39)	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 120,599,346 (GRCm39)	I381F	probably benign	Het
Mvk	A	G	5: 114,597,034 (GRCm39)	T334A	probably benign	Het
Naip5	C	T	13: 100,382,254 (GRCm39)	G152S	possibly damaging	Het
Neb	A	C	2: 52,185,384 (GRCm39)	S949R	probably damaging	Het
Nfya	A	T	17: 48,699,046 (GRCm39)	I214N	possibly damaging	Het
Nsf	G	T	11: 103,773,637 (GRCm39)	N292K	probably damaging	Het
Nup133	T	C	8: 124,653,945 (GRCm39)	T505A	probably benign	Het
Or4c1	A	C	2: 89,133,920 (GRCm39)	S5R	probably benign	Het
Or4p7	A	G	2: 88,221,605 (GRCm39)	T5A	probably benign	Het
Or5h24	T	A	16: 58,919,067 (GRCm39)	H96L	unknown	Het
Or9s23	A	T	1: 92,501,546 (GRCm39)	T218S	probably benign	Het
P4ha3	A	T	7: 99,943,022 (GRCm39)	R136W	probably damaging	Het
Parp12	A	G	6: 39,067,142 (GRCm39)	V550A	probably damaging	Het
Phf11a	T	C	14: 59,532,387 (GRCm39)	D16G	probably benign	Het
Pramel31	T	A	4: 144,088,207 (GRCm39)	M1K	probably null	Het
Rab3gap2	A	G	1: 185,009,342 (GRCm39)		probably null	Het
Sco1	A	G	11: 66,954,784 (GRCm39)	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sfpq	T	A	4: 126,915,516 (GRCm39)	S103T	unknown	Het
Shisa7	G	A	7: 4,832,975 (GRCm39)	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,992,254 (GRCm39)	D144V	probably benign	Het
Stxbp5l	G	A	16: 36,950,213 (GRCm39)	P1044L	probably damaging	Het
Tgm6	G	A	2: 129,987,116 (GRCm39)	R528Q	probably benign	Het
Tlr3	A	T	8: 45,849,992 (GRCm39)	H892Q	probably benign	Het
Tmc2	A	G	2: 130,082,035 (GRCm39)	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,345,397 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,174,977 (GRCm39)	I139M	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,681,959 (GRCm39)	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,050,300 (GRCm39)	G746W	probably damaging	Het
Zfp335	T	A	2: 164,744,165 (GRCm39)	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,820,071 (GRCm39)	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745 (GRCm39)		probably null	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
R3703:Naa30	UTSW	14	49,425,059 (GRCm39)	missense	probably benign	0.05
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'- GCAAAAGTCGCTTCCGTGTG -3'

Sequencing Primer
(F):5'- AAATGACACCTGTTTTTCTCCAC -3'
(R):5'- CTTCCGTGTGGGTGGAGTC -3'

Posted On

2017-12-01