Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Naa25'

409900

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa25

Ensembl Gene

ENSMUSG00000042719

Gene Name

N(alpha)-acetyltransferase 25, NatB auxiliary subunit

Synonyms

C330023M02Rik, 4833422K13Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

121397936-121444378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121434978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 720 (V720E)

Ref Sequence

ENSEMBL: ENSMUSP00000038977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042163] [ENSMUST00000151458] [ENSMUST00000153758] [ENSMUST00000173895]

AlphaFold

Q8BWZ3

Predicted Effect

probably null
Transcript: ENSMUST00000042163
AA Change: V720E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: V720E

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
Pfam:NatB_MDM20	263	658	1.6e-121	PFAM
low complexity region	672	683	N/A	INTRINSIC
low complexity region	687	700	N/A	INTRINSIC
low complexity region	721	734	N/A	INTRINSIC
low complexity region	915	935	N/A	INTRINSIC
low complexity region	958	971	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151458

SMART Domains

Protein: ENSMUSP00000120970
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
SCOP:d1a17__	21	94	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153758

SMART Domains

Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	55	3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172908

SMART Domains

Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	Het

Other mutations in Naa25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Naa25	APN	5	121439865	missense	probably damaging	1.00
IGL02142:Naa25	APN	5	121426762	missense	possibly damaging	0.52
IGL02541:Naa25	APN	5	121424531	missense	possibly damaging	0.92
IGL02747:Naa25	APN	5	121414605	splice site	probably benign
IGL03074:Naa25	APN	5	121408337	critical splice donor site	probably null
IGL03218:Naa25	APN	5	121426070	missense	probably damaging	1.00
R0003:Naa25	UTSW	5	121407184	intron	probably benign
R0022:Naa25	UTSW	5	121417976	missense	probably damaging	1.00
R0022:Naa25	UTSW	5	121417976	missense	probably damaging	1.00
R0102:Naa25	UTSW	5	121435569	missense	possibly damaging	0.69
R0102:Naa25	UTSW	5	121435569	missense	possibly damaging	0.69
R0399:Naa25	UTSW	5	121435490	missense	probably benign	0.00
R0973:Naa25	UTSW	5	121438716	splice site	probably benign
R1418:Naa25	UTSW	5	121423734	missense	probably damaging	1.00
R1582:Naa25	UTSW	5	121434829	missense	probably benign
R1793:Naa25	UTSW	5	121417415	missense	possibly damaging	0.82
R1793:Naa25	UTSW	5	121420593	missense	probably damaging	1.00
R1863:Naa25	UTSW	5	121435548	missense	probably benign	0.00
R3160:Naa25	UTSW	5	121435072	splice site	probably null
R3162:Naa25	UTSW	5	121435072	splice site	probably null
R3721:Naa25	UTSW	5	121431556	missense	probably benign
R3864:Naa25	UTSW	5	121409197	missense	probably damaging	0.96
R4852:Naa25	UTSW	5	121430692	missense	probably damaging	1.00
R5077:Naa25	UTSW	5	121424576	missense	probably benign	0.02
R5602:Naa25	UTSW	5	121420495	missense	probably benign	0.30
R5855:Naa25	UTSW	5	121423692	missense	possibly damaging	0.94
R6464:Naa25	UTSW	5	121417961	missense	probably damaging	1.00
R6734:Naa25	UTSW	5	121438825	missense	possibly damaging	0.65
R6750:Naa25	UTSW	5	121408309	missense	probably damaging	1.00
R6767:Naa25	UTSW	5	121439865	missense	probably damaging	1.00
R6856:Naa25	UTSW	5	121438804	missense	probably damaging	1.00
R7145:Naa25	UTSW	5	121417489	critical splice donor site	probably null
R7631:Naa25	UTSW	5	121438728	missense	possibly damaging	0.92
R7701:Naa25	UTSW	5	121425979	missense	probably benign
R7800:Naa25	UTSW	5	121424531	missense	possibly damaging	0.92
R7804:Naa25	UTSW	5	121424589	missense	probably benign	0.00
R7822:Naa25	UTSW	5	121407213	missense	probably damaging	1.00
R8707:Naa25	UTSW	5	121414812	missense	probably damaging	1.00
R8944:Naa25	UTSW	5	121414510	missense	probably benign	0.34
X0004:Naa25	UTSW	5	121413081	missense	probably damaging	1.00

Posted On

2016-08-02