Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01099:Naa50'

52916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa50

Ensembl Gene

ENSMUSG00000022698

Gene Name

N(alpha)-acetyltransferase 50, NatE catalytic subunit

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

43960193-43983729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43976832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 23 (N23I)

Ref Sequence

ENSEMBL: ENSMUSP00000124291 (fasta)

Gene Model

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

AlphaFold

Q6PGB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000063520
AA Change: N22I

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

SMART Domains

Protein: ENSMUSP00000070140
Gene: ENSMUSG00000022698
AA Change: N22I

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

probably damaging
Transcript: ENSMUST00000063542
AA Change: N23I

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

SMART Domains

Protein: ENSMUSP00000067361
Gene: ENSMUSG00000022698
AA Change: N23I

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 damaging
Transcript: ENSMUST00000159514
AA Change: N29I

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

SMART Domains

Protein: ENSMUSP00000125517
Gene: ENSMUSG00000022698
AA Change: N29I

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

probably damaging
Transcript: ENSMUST00000161326
AA Change: N23I

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

SMART Domains

Protein: ENSMUSP00000124291
Gene: ENSMUSG00000022698
AA Change: N23I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,965,031 (GRCm39)		probably benign	Het
Adam28	A	G	14: 68,874,778 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,367,411 (GRCm39)	I560M	probably benign	Het
Alpl	G	A	4: 137,470,624 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,598,265 (GRCm39)	G753D	probably damaging	Het
Arhgef28	A	T	13: 98,090,480 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,717,055 (GRCm39)	C329S	probably damaging	Het
Capn13	T	C	17: 73,658,504 (GRCm39)	D188G	probably damaging	Het
Car10	G	A	11: 93,469,516 (GRCm39)	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,475,497 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,905,690 (GRCm39)	R562*	probably null	Het
Colec12	C	T	18: 9,848,826 (GRCm39)	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,417,488 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,517,188 (GRCm39)	D72G	possibly damaging	Het
Etl4	T	C	2: 20,811,922 (GRCm39)	L1335P	probably benign	Het
F5	T	G	1: 164,021,903 (GRCm39)	N1459K	probably damaging	Het
Fam161a	T	C	11: 22,965,894 (GRCm39)		probably benign	Het
Flnc	G	A	6: 29,433,617 (GRCm39)	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,517,966 (GRCm39)	I607V	probably benign	Het
Fscb	A	G	12: 64,518,875 (GRCm39)	S864P	unknown	Het
Glod4	T	A	11: 76,130,376 (GRCm39)	K36*	probably null	Het
Gm6619	G	A	6: 131,467,393 (GRCm39)	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,258,706 (GRCm39)		probably benign	Het
Gyg1	A	T	3: 20,205,211 (GRCm39)	M119K	probably benign	Het
Ifit2	A	T	19: 34,550,702 (GRCm39)	I81F	probably damaging	Het
Insr	T	C	8: 3,308,682 (GRCm39)	Y118C	probably damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Kcnh3	T	C	15: 99,137,617 (GRCm39)	S771P	probably benign	Het
Kndc1	C	A	7: 139,500,700 (GRCm39)	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,165,591 (GRCm39)	C330R	probably damaging	Het
Nt5el	A	T	13: 105,245,868 (GRCm39)	H143L	probably benign	Het
Or55b4	T	A	7: 102,133,685 (GRCm39)	D214V	probably damaging	Het
Or5a1	A	G	19: 12,097,240 (GRCm39)	S279P	probably damaging	Het
Or8b48	T	C	9: 38,493,373 (GRCm39)	S267P	probably benign	Het
Or8c16	T	C	9: 38,131,039 (GRCm39)	S307P	probably benign	Het
Pfkp	A	T	13: 6,653,426 (GRCm39)		probably benign	Het
Phlda2	G	A	7: 143,055,876 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,946,906 (GRCm39)	V823L	probably benign	Het
Prpf40a	T	A	2: 53,031,847 (GRCm39)	H794L	probably benign	Het
Ripor2	A	T	13: 24,885,190 (GRCm39)	H436L	probably benign	Het
Rnf138	T	A	18: 21,153,970 (GRCm39)	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,514,582 (GRCm39)	V1064D	probably damaging	Het
Slc12a2	T	A	18: 58,039,092 (GRCm39)	C557*	probably null	Het
Slc1a6	T	C	10: 78,624,831 (GRCm39)	S79P	possibly damaging	Het
Snapin	G	A	3: 90,397,909 (GRCm39)		probably benign	Het
Tdp1	A	T	12: 99,881,704 (GRCm39)		probably benign	Het
Tigar	G	T	6: 127,065,108 (GRCm39)	A180E	probably benign	Het
Trav6-2	A	T	14: 52,905,122 (GRCm39)	T48S	probably benign	Het
Ttn	A	G	2: 76,558,776 (GRCm39)	Y29702H	probably damaging	Het
Ush1c	A	G	7: 45,854,686 (GRCm39)	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,691,578 (GRCm39)	I132F	probably damaging	Het
Vmn1r85	T	A	7: 12,818,461 (GRCm39)	K228*	probably null	Het
Wdr33	C	A	18: 32,039,842 (GRCm39)		probably benign	Het
Ybx2	A	T	11: 69,831,556 (GRCm39)	Q136L	probably damaging	Het
Ypel1	T	A	16: 16,909,076 (GRCm39)	M368L	probably damaging	Het

Other mutations in Naa50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
G1Funyon:Naa50	UTSW	16	43,977,494 (GRCm39)	missense	probably benign
R6044:Naa50	UTSW	16	43,979,890 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2013-06-21