Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02009:Nat8f5'

182278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nat8f5

Ensembl Gene

ENSMUSG00000079494

Gene Name

N-acetyltransferase 8 (GCN5-related) family member 5

Synonyms

1810018F03Rik, Cml5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02009

Quality Score

Status

Chromosome

Chromosomal Location

85794200-85797954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85794408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 184 (I184R)

Ref Sequence

ENSEMBL: ENSMUSP00000032074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032074] [ENSMUST00000174143]

AlphaFold

Q9QXS8

Predicted Effect

probably benign
Transcript: ENSMUST00000032074
AA Change: I184R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: I184R

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Acetyltransf_10	73	192	2.7e-12	PFAM
Pfam:Acetyltransf_9	79	195	9.1e-10	PFAM
Pfam:Acetyltransf_8	84	201	9.2e-10	PFAM
Pfam:Acetyltransf_4	84	205	9.2e-9	PFAM
Pfam:Acetyltransf_7	104	194	3.1e-11	PFAM
Pfam:Acetyltransf_1	111	193	1.6e-15	PFAM
Pfam:Acetyltransf_CG	121	184	1.6e-11	PFAM
Pfam:FR47	131	201	4.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174143

SMART Domains

Protein: ENSMUSP00000133846
Gene: ENSMUSG00000079495

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:Acetyltransf_10	71	193	5.5e-11	PFAM
Pfam:Acetyltransf_4	75	202	1.1e-9	PFAM
Pfam:Acetyltransf_7	105	195	1.2e-10	PFAM
Pfam:Acetyltransf_1	112	194	2.6e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies, omphalocele and gastroschisis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a3	T	C	7: 66,051,789 (GRCm39)	D388G	probably benign	Het
Ankhd1	C	A	18: 36,757,714 (GRCm39)	Q803K	probably damaging	Het
Arrdc3	A	G	13: 81,041,499 (GRCm39)	N180S	probably benign	Het
Atp11b	G	A	3: 35,868,301 (GRCm39)	E458K	probably benign	Het
Bend6	G	A	1: 33,901,827 (GRCm39)	A185V	probably benign	Het
Ccdc121	C	T	5: 31,644,835 (GRCm39)	T196I	probably benign	Het
Chd5	A	G	4: 152,450,670 (GRCm39)	D632G	probably damaging	Het
Clec4a1	A	T	6: 122,909,175 (GRCm39)	H181L	probably benign	Het
Cntnap5a	T	A	1: 116,085,224 (GRCm39)	D387E	probably benign	Het
Colq	G	A	14: 31,257,599 (GRCm39)	S256F	possibly damaging	Het
Cracd	A	G	5: 76,996,817 (GRCm39)	T92A	possibly damaging	Het
Ctdp1	A	G	18: 80,499,187 (GRCm39)	Y252H	probably damaging	Het
Cyp4f17	T	A	17: 32,743,854 (GRCm39)	L344Q	probably damaging	Het
Fam83b	A	G	9: 76,399,604 (GRCm39)	Y500H	probably damaging	Het
Gapvd1	G	A	2: 34,594,203 (GRCm39)	P949L	probably damaging	Het
Gp5	A	G	16: 30,128,482 (GRCm39)	I64T	probably benign	Het
Il31ra	A	G	13: 112,670,401 (GRCm39)	V248A	probably damaging	Het
Kdm4a	C	T	4: 118,017,366 (GRCm39)	A567T	probably benign	Het
Kpna7	T	C	5: 144,930,888 (GRCm39)		probably null	Het
Lrrc8c	G	A	5: 105,755,257 (GRCm39)	R344H	probably damaging	Het
Man1a	G	A	10: 53,801,621 (GRCm39)	L413F	probably damaging	Het
Man1a2	A	T	3: 100,591,978 (GRCm39)	D67E	probably damaging	Het
Mkln1	G	A	6: 31,426,455 (GRCm39)	S243N	probably benign	Het
Mmp19	T	A	10: 128,634,356 (GRCm39)	M299K	probably benign	Het
Msantd2	T	C	9: 37,434,686 (GRCm39)	F309L	possibly damaging	Het
Mstn	A	G	1: 53,101,309 (GRCm39)		probably benign	Het
Or5d43	C	T	2: 88,105,056 (GRCm39)	M112I	probably benign	Het
Or9m1b	G	T	2: 87,837,117 (GRCm39)	Q2K	probably benign	Het
Pigc	A	G	1: 161,798,134 (GRCm39)	K39E	possibly damaging	Het
Pms2	T	A	5: 143,862,582 (GRCm39)	L563Q	probably benign	Het
Rpap1	A	G	2: 119,610,594 (GRCm39)	S162P	possibly damaging	Het
Rpl3l	A	G	17: 24,951,407 (GRCm39)	K103E	probably damaging	Het
Slc45a1	A	T	4: 150,722,447 (GRCm39)	V479E	probably damaging	Het
Themis2	A	T	4: 132,512,753 (GRCm39)	L491Q	probably damaging	Het
Vmn2r17	A	T	5: 109,600,714 (GRCm39)	I671L	possibly damaging	Het
Vmn2r6	C	A	3: 64,445,323 (GRCm39)	V712L	possibly damaging	Het
Zzz3	A	G	3: 152,133,752 (GRCm39)	D270G	possibly damaging	Het

Other mutations in Nat8f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Nat8f5	APN	6	85,794,279 (GRCm39)	missense	probably damaging	1.00
IGL01348:Nat8f5	APN	6	85,794,862 (GRCm39)	missense	probably damaging	0.98
IGL01672:Nat8f5	APN	6	85,794,934 (GRCm39)	missense	probably damaging	1.00
IGL01769:Nat8f5	APN	6	85,794,859 (GRCm39)	missense	probably benign	0.01
IGL02493:Nat8f5	APN	6	85,794,544 (GRCm39)	missense	probably benign	0.01
IGL03346:Nat8f5	APN	6	85,794,640 (GRCm39)	missense	probably damaging	1.00
IGL03373:Nat8f5	APN	6	85,794,529 (GRCm39)	missense	probably benign	0.02
E7848:Nat8f5	UTSW	6	85,794,601 (GRCm39)	missense	probably damaging	0.99
R0034:Nat8f5	UTSW	6	85,794,868 (GRCm39)	missense	probably benign	0.05
R0670:Nat8f5	UTSW	6	85,794,957 (GRCm39)	start codon destroyed	probably null	1.00
R1939:Nat8f5	UTSW	6	85,794,801 (GRCm39)	missense	possibly damaging	0.93
R4514:Nat8f5	UTSW	6	85,794,405 (GRCm39)	missense	possibly damaging	0.53
R5502:Nat8f5	UTSW	6	85,794,635 (GRCm39)	missense	probably damaging	1.00
R5770:Nat8f5	UTSW	6	85,794,657 (GRCm39)	missense	probably damaging	1.00
R8038:Nat8f5	UTSW	6	85,794,667 (GRCm39)	missense	possibly damaging	0.69
Z1176:Nat8f5	UTSW	6	85,794,667 (GRCm39)	missense	probably benign	0.43

Posted On

2014-05-07