Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Naa80'

480272

Institutional Source

Beutler Lab

Gene Symbol

Naa80

Ensembl Gene

ENSMUSG00000079334

Gene Name

N(alpha)-acetyltransferase 80, NatH catalytic subunit

Synonyms

Nat6

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

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

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107457868-107461247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107460753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 216 (Y216C)

Ref Sequence

ENSEMBL: ENSMUSP00000091300 (fasta)

Gene Model

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

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: Y216C

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

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
AA Change: Y216C

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: 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: 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: 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: 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: ENSMUST00000139274

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334

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

Meta Mutation Damage Score

0.9384

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,524,370 (GRCm39)		probably null	Het
Adi1	G	A	12: 28,729,318 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	A	G	12: 8,066,243 (GRCm39)	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,408,728 (GRCm39)	C2538W	possibly damaging	Het
Brd10	A	G	19: 29,732,367 (GRCm39)		probably benign	Het
Btbd16	T	C	7: 130,420,802 (GRCm39)	V353A	probably benign	Het
Cad	C	T	5: 31,212,327 (GRCm39)	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 179,939,352 (GRCm39)	S877P	probably damaging	Het
Cep152	A	T	2: 125,405,552 (GRCm39)	V1660D	probably benign	Het
Clrn2	G	T	5: 45,617,528 (GRCm39)	G133V	probably damaging	Het
Clstn2	T	C	9: 97,338,634 (GRCm39)	I842V	probably benign	Het
Cpt1c	C	T	7: 44,614,548 (GRCm39)	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,573,477 (GRCm39)	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,612,388 (GRCm39)	V317E	probably damaging	Het
Dock10	T	C	1: 80,514,663 (GRCm39)	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646 (GRCm39)	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,024,832 (GRCm39)	L27P	unknown	Het
Ero1b	T	A	13: 12,589,714 (GRCm39)	L39Q	probably damaging	Het
Erp27	T	C	6: 136,888,609 (GRCm39)	D123G	probably damaging	Het
Fasn	G	T	11: 120,711,735 (GRCm39)	F148L	probably damaging	Het
Fbxl5	T	C	5: 43,922,746 (GRCm39)	E218G	probably damaging	Het
Fbxw28	A	T	9: 109,158,493 (GRCm39)	D210E	probably damaging	Het
Gm10653	T	A	9: 62,748,796 (GRCm39)		probably benign	Het
Gm17067	A	G	7: 42,357,554 (GRCm39)	L316S	probably benign	Het
Gm29106	T	C	1: 118,127,990 (GRCm39)	S561P	probably damaging	Het
Hmcn1	C	A	1: 150,508,188 (GRCm39)	K3699N	probably benign	Het
Itch	T	A	2: 155,021,009 (GRCm39)		probably null	Het
Itpr3	C	T	17: 27,317,145 (GRCm39)	A800V	probably damaging	Het
Kdm2b	A	T	5: 123,017,650 (GRCm39)	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,703,576 (GRCm39)	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,852,104 (GRCm39)	E137G	probably damaging	Het
Krt33a	G	A	11: 99,903,289 (GRCm39)	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,111,754 (GRCm39)	R542L	probably benign	Het
Macf1	C	A	4: 123,401,126 (GRCm39)	S653I	probably damaging	Het
Macrod2	G	A	2: 142,160,367 (GRCm39)	V408M	probably damaging	Het
Macroh2a2	T	C	10: 61,583,541 (GRCm39)	T200A	possibly damaging	Het
Mapkapk3	G	T	9: 107,166,425 (GRCm39)	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,302 (GRCm39)	V157I	probably benign	Het
Mrps28	T	C	3: 8,988,805 (GRCm39)	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,399,122 (GRCm39)	C162S	probably damaging	Het
Nckap5	T	G	1: 125,953,523 (GRCm39)	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,256,763 (GRCm39)	Y91C	probably benign	Het
Nf2	G	T	11: 4,734,566 (GRCm39)		probably null	Het
Or10d1b	G	A	9: 39,613,696 (GRCm39)	A123V	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,789 (GRCm39)	M120L	unknown	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2y10	A	T	11: 49,455,428 (GRCm39)	I227F	possibly damaging	Het
Or4c29	T	C	2: 88,740,380 (GRCm39)	D119G	probably damaging	Het
Or4g7	T	A	2: 111,309,310 (GRCm39)	Y60*	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxr1	T	G	15: 41,689,297 (GRCm39)	L507W	probably damaging	Het
Plxna2	A	T	1: 194,481,883 (GRCm39)	K1451M	probably damaging	Het
Plxna2	A	G	1: 194,476,735 (GRCm39)	M1184V	probably benign	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Ppp1r16b	T	C	2: 158,597,137 (GRCm39)	V257A	possibly damaging	Het
Prss56	G	A	1: 87,115,279 (GRCm39)	W498*	probably null	Het
Ptpru	A	G	4: 131,498,604 (GRCm39)	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,973,920 (GRCm39)	F278S	probably damaging	Het
Qars1	A	T	9: 108,390,889 (GRCm39)	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rora	T	A	9: 69,271,734 (GRCm39)	N181K	probably benign	Het
Rufy3	A	G	5: 88,775,114 (GRCm39)	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,299,651 (GRCm39)	V212M	probably damaging	Het
Sis	G	A	3: 72,835,641 (GRCm39)	T907I	probably benign	Het
Slc38a3	A	T	9: 107,529,374 (GRCm39)	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,705,220 (GRCm39)	C809S	probably benign	Het
Snap91	A	T	9: 86,707,133 (GRCm39)		probably null	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Speer1m	A	T	5: 11,970,680 (GRCm39)	L84F	probably damaging	Het
Spry1	T	C	3: 37,696,997 (GRCm39)	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,610,458 (GRCm39)	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,684,331 (GRCm39)		probably null	Het
Tdo2	T	A	3: 81,868,747 (GRCm39)	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,184,655 (GRCm39)	Y753N	probably damaging	Het
Topbp1	A	T	9: 103,222,152 (GRCm39)	Q1341L	probably benign	Het
Trim14	G	T	4: 46,506,998 (GRCm39)	A406E	probably benign	Het
Trp63	C	T	16: 25,686,964 (GRCm39)	R393W	probably damaging	Het
Trrap	T	C	5: 144,754,489 (GRCm39)	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,762,724 (GRCm39)	M2399T	possibly damaging	Het
Unc45b	A	G	11: 82,804,153 (GRCm39)	N110S	probably damaging	Het
Usp32	G	T	11: 84,916,408 (GRCm39)	H845Q	probably damaging	Het
Usp44	G	A	10: 93,682,494 (GRCm39)	D268N	probably damaging	Het
Vmn1r18	T	G	6: 57,367,451 (GRCm39)	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,478 (GRCm39)	Y423*	probably null	Het
Wapl	A	T	14: 34,461,204 (GRCm39)	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,322,286 (GRCm39)	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,925,968 (GRCm39)	Q321L	probably null	Het
Zfp983	A	G	17: 21,881,401 (GRCm39)	D443G	probably benign	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
R4836:Naa80	UTSW	9	107,460,738 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCCCACAGCCTCTTAGTAG -3'
(R):5'- ATCTCGATAGCATGTCTCTAGTG -3'

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

Posted On

2017-06-26