Mutagenetix > Incidental Mutation

Incidental Mutation 'R6044:Naa50'

483734

Institutional Source

Beutler Lab

Gene Symbol

Naa50

Ensembl Gene

ENSMUSG00000022698

Gene Name

N(alpha)-acetyltransferase 50, NatE catalytic subunit

Synonyms

Nat13, Nat5, Mak3p, San, 2810441M03Rik, 2600005K24Rik

MMRRC Submission

044212-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6044 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43960193-43983729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43979890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 93 (E93K)

Ref Sequence

ENSEMBL: ENSMUSP00000067361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063520] [ENSMUST00000063542] [ENSMUST00000159514] [ENSMUST00000161326]

AlphaFold

Q6PGB6

Predicted Effect

probably benign
Transcript: ENSMUST00000063520
AA Change: E132K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070140
Gene: ENSMUSG00000022698
AA Change: E132K

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_4	20	148	5.6e-10	PFAM
Pfam:Acetyltransf_10	22	128	3.4e-9	PFAM
Pfam:Acetyltransf_7	46	130	5.6e-12	PFAM
Pfam:Acetyltransf_1	48	129	4.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063542
AA Change: E93K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067361
Gene: ENSMUSG00000022698
AA Change: E93K

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_4	19	109	4.5e-9	PFAM
Pfam:Acetyltransf_1	46	90	6.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159514
AA Change: E139K

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125517
Gene: ENSMUSG00000022698
AA Change: E139K

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	25	135	3.3e-9	PFAM
Pfam:Acetyltransf_7	53	137	5e-12	PFAM
Pfam:Acetyltransf_4	54	154	5e-9	PFAM
Pfam:Acetyltransf_1	55	136	1.4e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161326
AA Change: E133K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124291
Gene: ENSMUSG00000022698
AA Change: E133K

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_4	21	149	5.7e-10	PFAM
Pfam:Acetyltransf_10	23	129	3.4e-9	PFAM
Pfam:Acetyltransf_7	47	131	5.7e-12	PFAM
Pfam:Acetyltransf_1	49	130	4.1e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Adamts20	A	T	15: 94,180,364 (GRCm39)	Y1764N	probably damaging	Het
Adamtsl1	A	T	4: 86,130,928 (GRCm39)	D223V	probably damaging	Het
Agbl1	T	C	7: 75,967,868 (GRCm39)	V31A	possibly damaging	Het
Alk	T	C	17: 72,299,095 (GRCm39)	H462R	probably benign	Het
Amt	A	T	9: 108,174,450 (GRCm39)	T72S	probably damaging	Het
Atp12a	T	A	14: 56,613,612 (GRCm39)	D461E	probably damaging	Het
Bcan	C	A	3: 87,902,950 (GRCm39)	C276F	probably damaging	Het
Crispld2	T	C	8: 120,737,410 (GRCm39)	S54P	possibly damaging	Het
Cyp11a1	A	T	9: 57,933,987 (GRCm39)	N478I	probably damaging	Het
Des	A	T	1: 75,340,113 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,473,774 (GRCm39)	I427F	probably benign	Het
Eml4	T	G	17: 83,753,379 (GRCm39)	L281R	probably damaging	Het
Fam186a	T	C	15: 99,839,878 (GRCm39)	Y2122C	probably damaging	Het
Fndc11	T	A	2: 180,863,459 (GRCm39)	L88Q	probably damaging	Het
Foxo1	A	G	3: 52,253,258 (GRCm39)	M474V	probably benign	Het
Gap43	A	T	16: 42,112,550 (GRCm39)	D70E	probably benign	Het
Gemin4	T	C	11: 76,103,760 (GRCm39)	M334V	probably benign	Het
Gm973	T	C	1: 59,667,393 (GRCm39)	L718P	probably benign	Het
Gprin3	G	T	6: 59,330,657 (GRCm39)	T550N	possibly damaging	Het
Hddc3	T	A	7: 79,993,332 (GRCm39)	V53E	probably benign	Het
Itpr2	A	T	6: 146,298,449 (GRCm39)	D12E	probably null	Het
Klri2	T	A	6: 129,717,247 (GRCm39)	E45D	probably damaging	Het
Lct	A	G	1: 128,235,717 (GRCm39)	V430A	possibly damaging	Het
Mcm8	T	C	2: 132,673,600 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,350,050 (GRCm39)	T184A	possibly damaging	Het
Morc3	T	C	16: 93,663,330 (GRCm39)	V511A	probably benign	Het
Mta2	T	C	19: 8,925,695 (GRCm39)	Y397H	probably damaging	Het
Or14j2	G	A	17: 37,885,426 (GRCm39)	T296M	probably damaging	Het
Or2t26	T	C	11: 49,039,522 (GRCm39)	V146A	probably benign	Het
Or4a77	T	A	2: 89,487,516 (GRCm39)	I90F	probably damaging	Het
Or4c126	T	C	2: 89,823,761 (GRCm39)	I8T	possibly damaging	Het
Or4k40	T	C	2: 111,250,423 (GRCm39)	N291S	probably damaging	Het
Padi4	A	G	4: 140,475,438 (GRCm39)	S576P	possibly damaging	Het
Poglut2	A	T	1: 44,153,611 (GRCm39)	L221*	probably null	Het
Prss47	A	T	13: 65,197,120 (GRCm39)	Y111*	probably null	Het
Ptprm	A	G	17: 67,000,857 (GRCm39)	V1100A	probably damaging	Het
Rab11fip3	G	A	17: 26,286,843 (GRCm39)	P437S	possibly damaging	Het
Rsph14	C	T	10: 74,867,102 (GRCm39)	D15N	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco1a1	A	G	6: 141,885,743 (GRCm39)	V94A	probably benign	Het
Smpdl3a	A	G	10: 57,687,358 (GRCm39)	E362G	possibly damaging	Het
Sva	A	T	6: 42,017,034 (GRCm39)	Y47F	probably benign	Het
Tatdn3	A	G	1: 190,788,558 (GRCm39)		probably null	Het
Tlcd4	A	T	3: 121,001,018 (GRCm39)	I205K	probably damaging	Het
Tlcd5	A	G	9: 43,024,903 (GRCm39)	S18P	probably benign	Het
Tmem131	G	A	1: 36,920,422 (GRCm39)	Q93*	probably null	Het
Trpm7	T	C	2: 126,656,665 (GRCm39)	E1184G	probably damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Usp40	A	T	1: 87,917,872 (GRCm39)	I325K	probably benign	Het
Vmn2r27	T	G	6: 124,208,731 (GRCm39)	I5L	probably benign	Het
Wee1	C	T	7: 109,738,513 (GRCm39)	T542I	probably benign	Het
Wrn	G	A	8: 33,726,457 (GRCm39)	P1129S	probably damaging	Het
Zfyve16	G	A	13: 92,659,174 (GRCm39)	Q246*	probably null	Het

Other mutations in Naa50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Naa50	APN	16	43,976,832 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Naa50	UTSW	16	43,977,494 (GRCm39)	missense	probably benign
R6307:Naa50	UTSW	16	43,979,831 (GRCm39)	missense	probably damaging	1.00
R6520:Naa50	UTSW	16	43,979,872 (GRCm39)	missense	probably damaging	1.00
R8301:Naa50	UTSW	16	43,977,494 (GRCm39)	missense	probably benign
R8551:Naa50	UTSW	16	43,979,996 (GRCm39)	missense	probably benign	0.04
R9367:Naa50	UTSW	16	43,977,554 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGAAATGTCTGAGTTGGC -3'
(R):5'- ATCTGCCACCCAATTTTCGG -3'

Sequencing Primer
(F):5'- GGCTACTCTTGACCAGTTTTAAC -3'
(R):5'- TCTGACCAGATGGGACTT -3'

Posted On

2017-07-14