Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02126:Naa38'

280867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naa38

Ensembl Gene

ENSMUSG00000059278

Gene Name

N(alpha)-acetyltransferase 38, NatC auxiliary subunit

Synonyms

Lsmd1, 1500034E06Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02126

Quality Score

Status

Chromosome

Chromosomal Location

69286617-69287497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69287045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 42 (R42W)

Ref Sequence

ENSEMBL: ENSMUSP00000123155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050140] [ENSMUST00000051620] [ENSMUST00000094077] [ENSMUST00000108660] [ENSMUST00000144531]

AlphaFold

Q9D2U5

Predicted Effect

probably benign
Transcript: ENSMUST00000050140

SMART Domains

Protein: ENSMUSP00000055528
Gene: ENSMUSG00000045377

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051620

SMART Domains

Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795

Domain	Start	End	E-Value	Type
Cyt-b5	20	92	1.89e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082283

Predicted Effect

probably benign
Transcript: ENSMUST00000094077

SMART Domains

Protein: ENSMUSP00000091620
Gene: ENSMUSG00000018476

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
low complexity region	54	71	N/A	INTRINSIC
SCOP:d1elwa_	91	152	9e-5	SMART
low complexity region	214	227	N/A	INTRINSIC
low complexity region	239	270	N/A	INTRINSIC
low complexity region	312	329	N/A	INTRINSIC
low complexity region	333	345	N/A	INTRINSIC
low complexity region	389	415	N/A	INTRINSIC
low complexity region	461	487	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
low complexity region	544	577	N/A	INTRINSIC
low complexity region	585	615	N/A	INTRINSIC
low complexity region	643	650	N/A	INTRINSIC
low complexity region	711	719	N/A	INTRINSIC
low complexity region	743	766	N/A	INTRINSIC
low complexity region	771	811	N/A	INTRINSIC
low complexity region	840	879	N/A	INTRINSIC
low complexity region	890	909	N/A	INTRINSIC
low complexity region	950	989	N/A	INTRINSIC
low complexity region	993	1011	N/A	INTRINSIC
low complexity region	1044	1068	N/A	INTRINSIC
low complexity region	1284	1317	N/A	INTRINSIC
JmjC	1337	1500	1.61e-47	SMART
Blast:JmjC	1536	1600	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108660

SMART Domains

Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795

Domain	Start	End	E-Value	Type
Cyt-b5	20	92	1.89e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134903

Predicted Effect

probably damaging
Transcript: ENSMUST00000144531
AA Change: R42W

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

SMART Domains

Protein: ENSMUSP00000123155
Gene: ENSMUSG00000059278
AA Change: R42W

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Sm	43	114	4.26e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142126

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Angptl3	T	C	4: 98,919,738 (GRCm39)		probably null	Het
Atoh1	T	C	6: 64,706,334 (GRCm39)	W10R	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Ccm2	A	G	11: 6,544,154 (GRCm39)	T317A	probably damaging	Het
Ccnt1	A	T	15: 98,465,484 (GRCm39)	W12R	probably damaging	Het
Celf1	T	A	2: 90,831,408 (GRCm39)	L79H	probably damaging	Het
Cmip	T	C	8: 118,175,770 (GRCm39)	V423A	probably damaging	Het
Ddr1	T	A	17: 35,999,481 (GRCm39)	I431F	probably damaging	Het
Dnah6	A	G	6: 73,080,149 (GRCm39)	L2343P	probably benign	Het
Duox1	A	G	2: 122,176,817 (GRCm39)	D1446G	probably benign	Het
Erich3	A	G	3: 154,419,599 (GRCm39)	H231R	possibly damaging	Het
Fam221b	T	A	4: 43,666,450 (GRCm39)	I54F	probably benign	Het
Fcgbpl1	G	A	7: 27,839,281 (GRCm39)	V365M	probably damaging	Het
Galntl5	T	C	5: 25,394,839 (GRCm39)	F69L	possibly damaging	Het
Gba2	T	G	4: 43,567,918 (GRCm39)		probably null	Het
Gbf1	C	A	19: 46,240,556 (GRCm39)	P46Q	probably damaging	Het
Gimap6	T	G	6: 48,679,635 (GRCm39)	S134R	probably damaging	Het
Gm5424	A	C	10: 61,907,377 (GRCm39)		noncoding transcript	Het
Hexb	T	C	13: 97,314,532 (GRCm39)	K404E	possibly damaging	Het
Hs3st3a1	G	A	11: 64,327,331 (GRCm39)	V147M	probably damaging	Het
Hsd17b4	T	C	18: 50,315,063 (GRCm39)	V610A	probably benign	Het
Loxl3	T	A	6: 83,025,628 (GRCm39)	W329R	probably damaging	Het
Lrrc52	A	G	1: 167,273,575 (GRCm39)	F247S	probably damaging	Het
Nadsyn1	G	A	7: 143,357,753 (GRCm39)	Q485*	probably null	Het
Nid1	A	G	13: 13,663,743 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,362,251 (GRCm39)	T224A	probably benign	Het
Or5m11b	T	G	2: 85,806,517 (GRCm39)	I310S	probably benign	Het
Palld	A	G	8: 62,330,476 (GRCm39)	Y134H	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pfn3	T	C	13: 55,562,699 (GRCm39)	D94G	possibly damaging	Het
Pkhd1	G	A	1: 20,187,419 (GRCm39)	R3630C	probably damaging	Het
Por	T	A	5: 135,744,829 (GRCm39)	F31I	probably benign	Het
Ppp1r12c	T	C	7: 4,492,858 (GRCm39)	E127G	probably benign	Het
Ppp1r9a	T	A	6: 5,156,229 (GRCm39)	S1162T	probably damaging	Het
Psen2	C	A	1: 180,057,488 (GRCm39)	A297S	probably benign	Het
Rpusd2	G	A	2: 118,869,119 (GRCm39)	R514Q	probably damaging	Het
Rxrg	A	G	1: 167,462,029 (GRCm39)	M235V	probably damaging	Het
Sash1	T	C	10: 8,615,229 (GRCm39)	M644V	probably damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Slco1a7	T	A	6: 141,684,739 (GRCm39)	T239S	probably benign	Het
Ssu72	T	C	4: 155,816,483 (GRCm39)	I155T	probably benign	Het
Tas2r102	A	G	6: 132,739,607 (GRCm39)	R172G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trav12-2	C	A	14: 53,853,859 (GRCm39)	N2K	probably damaging	Het
Tyrp1	C	T	4: 80,755,845 (GRCm39)	Q205*	probably null	Het
Ubr4	T	A	4: 139,180,052 (GRCm39)		probably null	Het
Ush2a	A	G	1: 187,995,588 (GRCm39)	S120G	probably benign	Het
Vmn2r100	T	C	17: 19,741,504 (GRCm39)		probably benign	Het
Zer1	G	T	2: 29,994,928 (GRCm39)	T489K	probably benign	Het
Zfp955b	G	T	17: 33,521,238 (GRCm39)	G236*	probably null	Het

Other mutations in Naa38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Naa38	APN	11	69,287,194 (GRCm39)	splice site	probably benign
IGL02927:Naa38	APN	11	69,286,743 (GRCm39)	missense	probably damaging	0.98
R5353:Naa38	UTSW	11	69,287,408 (GRCm39)	missense	probably benign	0.26
R7494:Naa38	UTSW	11	69,287,126 (GRCm39)	missense	probably damaging	1.00
R8384:Naa38	UTSW	11	69,286,752 (GRCm39)	missense	probably benign	0.00
R9008:Naa38	UTSW	11	69,287,148 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16