Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Naa80'

205518

Institutional Source

Beutler Lab

Gene Symbol

Naa80

Ensembl Gene

ENSMUSG00000079334

Gene Name

N(alpha)-acetyltransferase 80, NatH catalytic subunit

Synonyms

Nat6

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

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

Stock #

R1838 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

107457868-107461247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107460216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 37 (R37H)

Ref Sequence

ENSEMBL: ENSMUSP00000091300 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000093785
AA Change: R37H

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
AA Change: R37H

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
AA Change: R37H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334
AA Change: R37H

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 benign
Transcript: ENSMUST00000130053
AA Change: R37H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334
AA Change: R37H

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: ENSMUST00000127380
AA Change: R37H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334
AA Change: R37H

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: ENSMUST00000139581
AA Change: R37H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334
AA Change: R37H

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

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184695

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: 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: 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: 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: 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

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,690 (GRCm39)	D22G	unknown	Het
Abca4	G	A	3: 121,921,954 (GRCm39)	R1170K	probably benign	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,142,581 (GRCm39)	R267L	probably damaging	Het
Adgrb2	A	T	4: 129,904,024 (GRCm39)	T717S	probably benign	Het
Adgrb3	A	G	1: 25,123,351 (GRCm39)	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,547,242 (GRCm39)	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Btnl6	T	A	17: 34,734,516 (GRCm39)	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,200,695 (GRCm39)	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,799,702 (GRCm39)		probably null	Het
Cdhr5	C	T	7: 140,852,516 (GRCm39)	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,822,525 (GRCm39)	D26G	probably damaging	Het
Ctr9	G	T	7: 110,651,510 (GRCm39)	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 26,857,841 (GRCm39)	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,909,894 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,436,949 (GRCm39)	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,743,415 (GRCm39)	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,155,337 (GRCm39)	V295A	probably benign	Het
Dnah7b	C	A	1: 46,316,265 (GRCm39)	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,767,719 (GRCm39)	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,830,660 (GRCm39)	I447L	probably benign	Het
Glt1d1	G	A	5: 127,755,193 (GRCm39)	V202I	probably benign	Het
Grk1	T	C	8: 13,466,155 (GRCm39)	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Gzma	T	A	13: 113,232,518 (GRCm39)	I131F	probably damaging	Het
Helq	A	T	5: 100,919,745 (GRCm39)	L35*	probably null	Het
Hnrnpll	T	C	17: 80,346,052 (GRCm39)	N403S	probably damaging	Het
Hsf5	A	G	11: 87,526,881 (GRCm39)	K518E	probably benign	Het
Ighe	T	A	12: 113,235,470 (GRCm39)	H258L	unknown	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Ints13	C	T	6: 146,468,109 (GRCm39)	A129T	possibly damaging	Het
Ipo7	T	A	7: 109,641,316 (GRCm39)	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,011,828 (GRCm39)	E136D	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,676,222 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,815,594 (GRCm39)	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,299,481 (GRCm39)	N114K	probably benign	Het
Lrfn1	A	T	7: 28,159,193 (GRCm39)	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,161,242 (GRCm39)	V240A	probably benign	Het
Lypd1	A	T	1: 125,801,108 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Man2c1	A	G	9: 57,044,621 (GRCm39)	N354S	probably benign	Het
Map3k13	T	C	16: 21,732,939 (GRCm39)	Y514H	possibly damaging	Het
Med15	T	C	16: 17,471,426 (GRCm39)	D577G	probably benign	Het
Mroh4	A	T	15: 74,487,962 (GRCm39)	M320K	probably benign	Het
Ms4a10	T	A	19: 10,941,411 (GRCm39)	D186V	possibly damaging	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,180,835 (GRCm39)	R741S	probably damaging	Het
Naip6	T	C	13: 100,452,644 (GRCm39)	D139G	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or2p2	A	T	13: 21,256,595 (GRCm39)	L292*	probably null	Het
Or4a79	A	T	2: 89,552,053 (GRCm39)	M134K	probably damaging	Het
Or8g2	A	T	9: 39,821,137 (GRCm39)	I13F	possibly damaging	Het
Pcdhb3	A	G	18: 37,434,370 (GRCm39)	D112G	probably benign	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Pgm3	C	T	9: 86,451,286 (GRCm39)	V123I	probably benign	Het
Pms1	A	C	1: 53,231,257 (GRCm39)		probably null	Het
Prl2b1	A	G	13: 27,572,549 (GRCm39)	S14P	possibly damaging	Het
Prune2	T	A	19: 17,177,242 (GRCm39)	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,241,862 (GRCm39)	E422G	probably benign	Het
Ralyl	A	G	3: 14,208,472 (GRCm39)	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,558,962 (GRCm39)		probably benign	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,067,067 (GRCm39)	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,215,778 (GRCm39)	H63L	probably benign	Het
Smpd4	G	A	16: 17,460,166 (GRCm39)		probably null	Het
Sp3	A	G	2: 72,768,520 (GRCm39)	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,863,671 (GRCm39)	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,865,279 (GRCm39)	R809K	probably benign	Het
Tmco5	A	T	2: 116,711,360 (GRCm39)	E90V	probably damaging	Het
Tnxb	A	T	17: 34,897,884 (GRCm39)	D844V	probably damaging	Het
Tpi1	T	C	6: 124,791,115 (GRCm39)	T41A	probably benign	Het
Ttn	T	C	2: 76,557,536 (GRCm39)	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,001,730 (GRCm39)	T5I	probably benign	Het
Wdr95	A	G	5: 149,522,831 (GRCm39)	D663G	probably benign	Het
Zbtb39	T	C	10: 127,578,569 (GRCm39)	F381S	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp646	T	A	7: 127,478,911 (GRCm39)	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,190,111 (GRCm39)	C139G	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly 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
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
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'- AGCCTGGATTCCACCTGTAG -3'
(R):5'- GATCAGCACAGGCACTCATGAG -3'

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

Posted On

2014-06-23