Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Naa80'

373251

Institutional Source

Beutler Lab

Gene Symbol

Naa80

Ensembl Gene

ENSMUSG00000079334

Gene Name

N(alpha)-acetyltransferase 80, NatH catalytic subunit

Synonyms

Nat6

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107457868-107461247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107460738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 211 (Y211F)

Ref Sequence

ENSEMBL: ENSMUSP00000091300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010192] [ENSMUST00000010195] [ENSMUST00000040059] [ENSMUST00000093785] [ENSMUST00000112387] [ENSMUST00000122985] [ENSMUST00000123005] [ENSMUST00000149638] [ENSMUST00000148440] [ENSMUST00000149487] [ENSMUST00000130053] [ENSMUST00000144392] [ENSMUST00000127380] [ENSMUST00000195725] [ENSMUST00000139581] [ENSMUST00000139274]

AlphaFold

Q9R123

Predicted Effect

probably benign
Transcript: ENSMUST00000010192

SMART Domains

Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	31	340	7.3e-101	PFAM
Pfam:IFRD_C	385	438	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010195

SMART Domains

Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	53	383	5.7e-134	PFAM
EGF	385	458	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040059

SMART Domains

Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	354	4.8e-122	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093785
AA Change: Y211F

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

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
AA Change: Y211F

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	4.95e-7	PROSPERO
internal_repeat_1	40	99	4.95e-7	PROSPERO
Pfam:Acetyltransf_1	144	217	2.1e-12	PFAM
Pfam:Acetyltransf_7	147	218	9.5e-9	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	261	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112387

SMART Domains

Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	384	7e-153	PFAM
Blast:EGF	385	454	1e-42	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000122985

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123005

SMART Domains

Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	1	104	6.8e-37	PFAM
EGF	105	178	1.4e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184695

Predicted Effect

probably benign
Transcript: ENSMUST00000149638

SMART Domains

Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148440

SMART Domains

Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	355	2.6e-127	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149487

SMART Domains

Protein: ENSMUSP00000117845
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	301	4.9e-103	PFAM
Pfam:Glyco_hydro_56	291	325	6.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130053

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144392

SMART Domains

Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	330	1.8e-128	PFAM
Pfam:Glyco_hydro_56	325	354	2.6e-8	PFAM
EGF	355	428	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127380

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195725

SMART Domains

Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	32	139	5.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139581

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139274

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Meta Mutation Damage Score

0.5715

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het

Other mutations in Naa80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02083:Naa80	APN	9	107,460,798 (GRCm39)	missense	probably benign	0.01
R1838:Naa80	UTSW	9	107,460,216 (GRCm39)	missense	possibly damaging	0.49
R1839:Naa80	UTSW	9	107,460,216 (GRCm39)	missense	possibly damaging	0.49
R2877:Naa80	UTSW	9	107,460,367 (GRCm39)	missense	possibly damaging	0.85
R2878:Naa80	UTSW	9	107,460,367 (GRCm39)	missense	possibly damaging	0.85
R3688:Naa80	UTSW	9	107,460,549 (GRCm39)	missense	possibly damaging	0.83
R4873:Naa80	UTSW	9	107,460,818 (GRCm39)	missense	probably damaging	0.97
R4875:Naa80	UTSW	9	107,460,818 (GRCm39)	missense	probably damaging	0.97
R6029:Naa80	UTSW	9	107,460,753 (GRCm39)	missense	probably damaging	1.00
R6893:Naa80	UTSW	9	107,460,225 (GRCm39)	missense	probably damaging	0.96
R7278:Naa80	UTSW	9	107,460,498 (GRCm39)	missense	probably damaging	1.00
R7294:Naa80	UTSW	9	107,460,182 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCGCTTATCACGGGTACTAG -3'
(R):5'- CTCGATAGCATGTCTCTAGTGGG -3'

Sequencing Primer
(F):5'- GACCAACCCCACAGCCTCTTAG -3'
(R):5'- CTCTAGTGGGCTTTGAGGAAG -3'

Posted On

2016-03-01