Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Naa35'

501310

Institutional Source

Beutler Lab

Gene Symbol

Naa35

Ensembl Gene

ENSMUSG00000021555

Gene Name

N(alpha)-acetyltransferase 35, NatC auxiliary subunit

Synonyms

Mak10, A330021G12Rik, C030004C14Rik, A330027C19Rik

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59585259-59635922 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 59622866 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022038] [ENSMUST00000164011] [ENSMUST00000165253] [ENSMUST00000172419]

Predicted Effect

silent
Transcript: ENSMUST00000022038

SMART Domains

Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555

Domain	Start	End	E-Value	Type
Pfam:Mak10	45	145	2.2e-29	PFAM
Pfam:Mak10	141	194	3.7e-10	PFAM
low complexity region	561	568	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163395

Predicted Effect

probably benign
Transcript: ENSMUST00000164011

SMART Domains

Protein: ENSMUSP00000127270
Gene: ENSMUSG00000021555

Domain	Start	End	E-Value	Type
Pfam:Mak10	1	119	1.9e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165129

Predicted Effect

silent
Transcript: ENSMUST00000165253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171391

Predicted Effect

silent
Transcript: ENSMUST00000172166

Predicted Effect

silent
Transcript: ENSMUST00000172419

SMART Domains

Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555

Domain	Start	End	E-Value	Type
Pfam:Mak10	40	193	1.2e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224194

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Naa35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Naa35	APN	13	59630055	missense	probably damaging	1.00
IGL00743:Naa35	APN	13	59630671	missense	probably benign	0.33
IGL01335:Naa35	APN	13	59616796	missense	probably damaging	1.00
IGL01385:Naa35	APN	13	59601066	missense	probably damaging	1.00
IGL01541:Naa35	APN	13	59600963	missense	probably damaging	1.00
IGL02129:Naa35	APN	13	59609525	missense	probably damaging	0.99
IGL02867:Naa35	APN	13	59608854	intron	probably benign
IGL02966:Naa35	APN	13	59586271	missense	probably benign
IGL03260:Naa35	APN	13	59627885	missense	probably benign	0.05
R0312:Naa35	UTSW	13	59609581	missense	probably benign	0.01
R0557:Naa35	UTSW	13	59627964	missense	probably damaging	0.99
R1553:Naa35	UTSW	13	59618279	critical splice donor site	probably null
R1611:Naa35	UTSW	13	59628933	missense	probably benign	0.01
R1676:Naa35	UTSW	13	59612676	missense	probably damaging	1.00
R3709:Naa35	UTSW	13	59618032	splice site	probably benign
R3896:Naa35	UTSW	13	59607295	missense	probably damaging	1.00
R5001:Naa35	UTSW	13	59625531	missense	possibly damaging	0.75
R5647:Naa35	UTSW	13	59622866	unclassified	probably benign
R5650:Naa35	UTSW	13	59622866	unclassified	probably benign
R5656:Naa35	UTSW	13	59622866	unclassified	probably benign
R6734:Naa35	UTSW	13	59608191	missense	possibly damaging	0.83
R6735:Naa35	UTSW	13	59625564	missense	probably damaging	1.00
R6985:Naa35	UTSW	13	59627943	missense	probably benign	0.03
R7165:Naa35	UTSW	13	59586183	missense	probably benign	0.05
R7531:Naa35	UTSW	13	59617941	nonsense	probably null
R7713:Naa35	UTSW	13	59598105	missense	probably benign	0.01
R7739:Naa35	UTSW	13	59599784	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTGGACACCTTACTCTGAC -3'
(R):5'- TACTCACTCAAGCAGTAAGAGGAG -3'

Sequencing Primer
(F):5'- GGACACCTTACTCTGACTACACTTG -3'
(R):5'- CTGTGCAGCATAATTTTCCA -3'

Posted On

2017-12-01