Mutagenetix > Incidental Mutation

Incidental Mutation 'R6893:Naa80'

538164

Institutional Source

Beutler Lab

Gene Symbol

Naa80

Ensembl Gene

ENSMUSG00000079334

Gene Name

N(alpha)-acetyltransferase 80, NatH catalytic subunit

Synonyms

Nat6

MMRRC Submission

044987-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R6893 (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 107460225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 40 (E40G)

Ref Sequence

ENSEMBL: ENSMUSP00000122321 (fasta)

Gene Model

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

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: E40G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
AA Change: E40G

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 damaging
Transcript: ENSMUST00000122985
AA Change: E40G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334
AA Change: E40G

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

probably damaging
Transcript: ENSMUST00000127380
AA Change: E40G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334
AA Change: E40G

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 damaging
Transcript: ENSMUST00000130053
AA Change: E40G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334
AA Change: E40G

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 damaging
Transcript: ENSMUST00000139581
AA Change: E40G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334
AA Change: E40G

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: 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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,368,770 (GRCm39)	D538V	probably damaging	Het
Akap9	T	C	5: 4,011,709 (GRCm39)	I804T	probably benign	Het
Amy1	T	C	3: 113,357,281 (GRCm39)	E186G	probably benign	Het
Best1	A	G	19: 9,974,446 (GRCm39)	Y33H	probably damaging	Het
Cacna1s	C	A	1: 136,005,431 (GRCm39)	N405K	probably benign	Het
Casp7	T	C	19: 56,421,741 (GRCm39)	Y60H	probably damaging	Het
Ccdc61	T	C	7: 18,626,488 (GRCm39)	N367S	possibly damaging	Het
Cnksr3	A	T	10: 7,085,129 (GRCm39)		probably null	Het
Col14a1	A	C	15: 55,308,044 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,323,784 (GRCm39)	K424*	probably null	Het
Dnai3	T	C	3: 145,786,184 (GRCm39)	E366G	probably damaging	Het
Dpep3	T	C	8: 106,700,474 (GRCm39)	K411E	probably benign	Het
Ebf2	T	A	14: 67,475,008 (GRCm39)	V81E	probably benign	Het
Ehbp1	G	T	11: 21,964,945 (GRCm39)	T1084K	probably damaging	Het
Fastkd2	C	T	1: 63,770,953 (GRCm39)	A103V	possibly damaging	Het
Gtf3c2	T	C	5: 31,323,722 (GRCm39)	K525E	probably benign	Het
Hdac2	A	G	10: 36,873,003 (GRCm39)	E287G	probably damaging	Het
Ifi207	T	A	1: 173,555,208 (GRCm39)	T832S	possibly damaging	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Lef1	A	G	3: 130,909,149 (GRCm39)	D55G	possibly damaging	Het
Lipo2	G	T	19: 33,698,407 (GRCm39)	Y323*	probably null	Het
Mettl24	C	T	10: 40,613,794 (GRCm39)	R178C	probably damaging	Het
Ndrg4	C	A	8: 96,433,229 (GRCm39)	C66*	probably null	Het
Nemf	A	G	12: 69,399,110 (GRCm39)	V140A	probably benign	Het
Nid2	T	A	14: 19,839,855 (GRCm39)	F815I	probably benign	Het
Or4c108	A	G	2: 88,804,143 (GRCm39)	F31L	probably benign	Het
Or5b106	A	C	19: 13,123,106 (GRCm39)	S306A	probably benign	Het
Or8b12c	A	C	9: 37,716,141 (GRCm39)	*311C	probably null	Het
Or8b3b	A	T	9: 38,584,355 (GRCm39)	N141K	possibly damaging	Het
Or8k30	A	G	2: 86,339,136 (GRCm39)	E111G	probably damaging	Het
Pcdhga3	T	C	18: 37,809,598 (GRCm39)	S684P	probably benign	Het
Plch1	A	T	3: 63,660,562 (GRCm39)	C352*	probably null	Het
Plscr2	G	A	9: 92,172,757 (GRCm39)	V139I	probably benign	Het
Ppa1	T	A	10: 61,508,182 (GRCm39)	C270S	probably benign	Het
Ryr2	T	A	13: 11,844,540 (GRCm39)	M399L	possibly damaging	Het
Scn3a	A	G	2: 65,356,098 (GRCm39)	V212A	possibly damaging	Het
Serpina3b	A	G	12: 104,099,285 (GRCm39)	K267E	probably benign	Het
Shroom3	A	G	5: 93,090,063 (GRCm39)	T938A	probably damaging	Het
Specc1	A	C	11: 62,023,279 (GRCm39)	S115R	probably benign	Het
Stim2	C	T	5: 54,210,787 (GRCm39)	T74I	probably benign	Het
Sult6b2	T	A	6: 142,750,025 (GRCm39)	D31V	possibly damaging	Het
Tbc1d24	A	T	17: 24,401,492 (GRCm39)	W406R	probably damaging	Het
Tmprss11b	A	G	5: 86,811,245 (GRCm39)		probably null	Het
Trappc9	A	G	15: 72,797,499 (GRCm39)	Y575H	possibly damaging	Het
Trim63	C	T	4: 134,050,412 (GRCm39)	T232M	probably damaging	Het
Ttn	A	T	2: 76,598,180 (GRCm39)	S19578T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Xpo4	T	A	14: 57,819,767 (GRCm39)	E1139D	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
R6029:Naa80	UTSW	9	107,460,753 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTGGATTCCACCTGTAG -3'
(R):5'- GATGAGATCAGCACAGGCACTC -3'

Sequencing Primer
(F):5'- ATTCCACCTGTAGGCCGGAG -3'
(R):5'- ACAGGCACTCATGAGCTCG -3'

Posted On

2018-11-06