Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Nat8f2'

31164

Institutional Source

Beutler Lab

Gene Symbol

Nat8f2

Ensembl Gene

ENSMUSG00000033634

Gene Name

N-acetyltransferase 8 (GCN5-related) family member 2

Synonyms

Cml2

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85842404-85846119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85845350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 4 (Y4C)

Ref Sequence

ENSEMBL: ENSMUSP00000044587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045008]

AlphaFold

Q8CHQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045008
AA Change: Y4C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: Y4C

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:Acetyltransf_10	77	192	4.9e-14	PFAM
Pfam:Acetyltransf_9	79	195	1.1e-9	PFAM
Pfam:Acetyltransf_4	84	205	1.1e-9	PFAM
Pfam:Acetyltransf_8	86	205	6.9e-12	PFAM
Pfam:Acetyltransf_7	104	194	2e-14	PFAM
Pfam:Acetyltransf_1	111	193	1e-17	PFAM
Pfam:FR47	130	200	5.1e-8	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		probably benign	Het

Other mutations in Nat8f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Nat8f2	UTSW	6	85,844,668 (GRCm39)	missense	possibly damaging	0.84
FR4737:Nat8f2	UTSW	6	85,844,668 (GRCm39)	missense	possibly damaging	0.84
R0063:Nat8f2	UTSW	6	85,844,815 (GRCm39)	missense	possibly damaging	0.50
R0063:Nat8f2	UTSW	6	85,844,815 (GRCm39)	missense	possibly damaging	0.50
R0532:Nat8f2	UTSW	6	85,844,784 (GRCm39)	missense	probably benign	0.01
R2143:Nat8f2	UTSW	6	85,845,239 (GRCm39)	missense	probably benign	0.00
R3698:Nat8f2	UTSW	6	85,844,778 (GRCm39)	missense	probably benign	0.16
R4335:Nat8f2	UTSW	6	85,845,233 (GRCm39)	missense	probably damaging	1.00
R5369:Nat8f2	UTSW	6	85,844,854 (GRCm39)	nonsense	probably null
R5484:Nat8f2	UTSW	6	85,844,994 (GRCm39)	missense	possibly damaging	0.76
R5714:Nat8f2	UTSW	6	85,844,891 (GRCm39)	missense	probably benign	0.43
R6737:Nat8f2	UTSW	6	85,845,194 (GRCm39)	missense	probably benign	0.00
R7676:Nat8f2	UTSW	6	85,845,194 (GRCm39)	missense	probably benign	0.00
R8054:Nat8f2	UTSW	6	85,844,754 (GRCm39)	missense	probably benign	0.00
R8415:Nat8f2	UTSW	6	85,845,024 (GRCm39)	missense	probably damaging	0.99
R9598:Nat8f2	UTSW	6	85,844,848 (GRCm39)	missense	probably benign	0.01
R9710:Nat8f2	UTSW	6	85,844,683 (GRCm39)	nonsense	probably null
Z1176:Nat8f2	UTSW	6	85,845,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTGCCTGCAAACTTTTAGCCAC -3'
(R):5'- TGTCAACAGAGGCACACCTGTGAG -3'

Sequencing Primer
(F):5'- GCCACATAATTTCTGCAAGAAATC -3'
(R):5'- ACACCTGTGAGTGGAGTCTC -3'

Posted On

2013-04-24