Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Nat8f5'

295722

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 #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

85794200-85797954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85794544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 139 (F139L)

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: F139L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: F139L

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	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
IGL02009:Nat8f5	APN	6	85,794,408 (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

2015-04-16