Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01672:Nat8f5'

103515

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 #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

85794200-85797954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85794934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 9 (Y9H)

Ref Sequence

ENSEMBL: ENSMUSP00000032074 (fasta)

Gene Model

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

AlphaFold

Q9QXS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032074
AA Change: Y9H

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

SMART Domains

Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: Y9H

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,316 (GRCm39)	E203G	probably damaging	Het
Ano1	G	T	7: 144,209,412 (GRCm39)	Q206K	probably damaging	Het
Ap4e1	T	A	2: 126,894,109 (GRCm39)	S620T	probably damaging	Het
Arfip1	A	T	3: 84,455,339 (GRCm39)		probably benign	Het
Atp8a2	A	T	14: 59,928,982 (GRCm39)	M1024K	probably benign	Het
Brap	T	C	5: 121,816,908 (GRCm39)		probably benign	Het
Calcrl	T	A	2: 84,175,414 (GRCm39)	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,755,992 (GRCm39)		probably null	Het
Cpb1	T	A	3: 20,329,585 (GRCm39)	Q47L	probably null	Het
Cse1l	T	C	2: 166,771,887 (GRCm39)	I402T	probably damaging	Het
Dnah17	A	G	11: 117,932,986 (GRCm39)	S3591P	probably damaging	Het
Dst	T	G	1: 34,264,774 (GRCm39)	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884 (GRCm39)	R2194*	probably null	Het
Ecpas	A	G	4: 58,814,041 (GRCm39)	V1355A	probably benign	Het
Eno4	A	G	19: 58,931,977 (GRCm39)	N30S	possibly damaging	Het
Ero1a	A	C	14: 45,529,887 (GRCm39)	S349A	probably benign	Het
Fat1	C	T	8: 45,493,737 (GRCm39)	T3938I	probably benign	Het
Focad	T	C	4: 88,278,827 (GRCm39)		probably null	Het
Gnai3	A	T	3: 108,016,775 (GRCm39)	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,643 (GRCm39)	V221A	probably benign	Het
Gpr153	C	A	4: 152,364,370 (GRCm39)	S142*	probably null	Het
Itpr1	C	A	6: 108,357,993 (GRCm39)	Y557*	probably null	Het
Nbas	T	C	12: 13,429,650 (GRCm39)	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,828,883 (GRCm39)	V1047A	possibly damaging	Het
Or2t48	A	C	11: 58,419,948 (GRCm39)	L288R	probably benign	Het
Or5p1	T	A	7: 107,916,725 (GRCm39)	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,899,881 (GRCm39)	T178I	probably damaging	Het
Palld	T	A	8: 62,330,536 (GRCm39)	I114F	probably benign	Het
Pcca	A	T	14: 122,927,557 (GRCm39)	Y440F	probably benign	Het
Pclo	T	C	5: 14,728,549 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,827,037 (GRCm39)	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,807,471 (GRCm39)	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,738,508 (GRCm39)	K91R	possibly damaging	Het
Rars1	A	T	11: 35,699,380 (GRCm39)	C638S	probably damaging	Het
Relb	T	A	7: 19,345,619 (GRCm39)	H406L	probably benign	Het
Ros1	G	T	10: 51,977,899 (GRCm39)	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,146,067 (GRCm39)	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,582,278 (GRCm39)	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,170,930 (GRCm39)	M1931K	probably benign	Het
Sphk2	T	C	7: 45,361,077 (GRCm39)	D309G	possibly damaging	Het
Stil	T	C	4: 114,889,986 (GRCm39)	S825P	probably damaging	Het
Swt1	C	T	1: 151,270,359 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,792 (GRCm39)	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,338,846 (GRCm39)	H362Q	probably benign	Het
Zfp451	C	A	1: 33,801,247 (GRCm39)	M1056I	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	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
IGL01769:Nat8f5	APN	6	85,794,859 (GRCm39)	missense	probably benign	0.01
IGL02009:Nat8f5	APN	6	85,794,408 (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

2014-01-21