Mutagenetix > Incidental Mutation

Incidental Mutation 'R8415:Nat8f2'

652883

Institutional Source

Beutler Lab

Gene Symbol

Nat8f2

Ensembl Gene

ENSMUSG00000033634

Gene Name

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

Synonyms

Cml2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85865422-85869158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85868042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

Ref Sequence

ENSEMBL: ENSMUSP00000044587 (fasta)

Gene Model

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

AlphaFold

Q8CHQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045008
AA Change: S113P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: S113P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,640,113	H317R	unknown	Het
Aox1	A	T	1: 58,041,479	Y29F	probably damaging	Het
Bnip2	T	C	9: 70,003,685	F304S	possibly damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc18	T	A	5: 108,216,033	V1198E	probably damaging	Het
Cnot3	T	C	7: 3,658,688	F660L	probably benign	Het
Cntnap3	A	G	13: 64,738,665	I1249T	probably benign	Het
Ctnna3	A	G	10: 63,504,130	I32V	probably benign	Het
D3Ertd254e	G	A	3: 36,165,033	G402S	probably damaging	Het
Dgkz	A	T	2: 91,940,304	S485T	possibly damaging	Het
Dpagt1	C	A	9: 44,327,185	N49K	possibly damaging	Het
Dsg3	A	T	18: 20,523,708	S212C	probably damaging	Het
Epb41l1	C	T	2: 156,526,953	A714V	probably benign	Het
Eppk1	A	G	15: 76,111,631	V350A	probably benign	Het
Frem1	T	G	4: 83,000,262	D481A	probably damaging	Het
Git2	T	C	5: 114,733,928	K532E	possibly damaging	Het
Glyr1	T	C	16: 5,036,465	H102R	probably benign	Het
Hdgfl2	C	T	17: 56,093,712	P160L	probably benign	Het
Hivep1	T	C	13: 42,155,429	S382P	probably benign	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hydin	G	A	8: 110,451,994	G1074R	probably damaging	Het
Ift140	A	G	17: 25,092,915	I1271V	probably damaging	Het
Krt28	T	A	11: 99,374,800	I14L	probably benign	Het
Lrtm2	A	T	6: 119,317,497	D224E	probably damaging	Het
Map1s	G	A	8: 70,913,266	V272M	probably damaging	Het
Mast3	A	G	8: 70,781,222	Y960H	probably damaging	Het
Mettl25	G	T	10: 105,826,141	Q323K	probably benign	Het
Mlh3	A	T	12: 85,269,080	S111T	probably benign	Het
Muc3	A	G	5: 137,143,950	L85P		Het
Myh6	C	G	14: 54,944,378	R1822P	probably damaging	Het
Myof	C	T	19: 37,995,424	G144E	probably benign	Het
Nlrp9a	A	T	7: 26,557,500	Y181F	probably benign	Het
Nup85	A	G	11: 115,566,642	I57V	probably benign	Het
Olfr1185-ps1	T	A	2: 88,499,366	C94S	probably damaging	Het
Olfr507	C	T	7: 108,621,956	T48I	probably damaging	Het
Olfr862	T	A	9: 19,884,113	Y64F	possibly damaging	Het
Pcdhb2	A	G	18: 37,296,057	N361S	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Phf20	C	T	2: 156,287,993	T495M	probably benign	Het
Pih1d3	A	G	1: 31,223,483	N182S	probably benign	Het
Pitpnm1	T	C	19: 4,105,454	M368T	probably benign	Het
Pter	A	G	2: 13,000,889	D291G	probably damaging	Het
Rasgrp2	T	G	19: 6,404,751	V207G	probably damaging	Het
Rnd2	A	T	11: 101,471,185	Q188L	probably benign	Het
Sh3d19	T	A	3: 86,085,056	D130E	probably benign	Het
Slc7a2	A	T	8: 40,916,359	Y617F	probably damaging	Het
Snx29	T	C	16: 11,447,427	L165P	probably damaging	Het
St7	T	C	6: 17,848,081		probably null	Het
Tas2r115	A	G	6: 132,737,835	L51P	probably damaging	Het
Tead1	C	A	7: 112,856,928	P164Q	probably benign	Het
Thop1	A	G	10: 81,078,551	Y224C	probably damaging	Het
Twf1	T	C	15: 94,579,821	*351W	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Utp20	A	G	10: 88,826,604		probably null	Het
Vmn2r118	G	T	17: 55,608,057	L530I	probably benign	Het
Vmn2r30	A	T	7: 7,312,360	C825S	probably damaging	Het
Vps13d	A	T	4: 145,091,979	M3106K		Het
Wfdc15a	A	T	2: 164,199,751	C51S	probably damaging	Het
Zc3hc1	T	C	6: 30,375,952	D203G	probably damaging	Het
Zfhx2	G	T	14: 55,070,622	D932E	probably benign	Het

Other mutations in Nat8f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Nat8f2	UTSW	6	85867686	missense	possibly damaging	0.84
FR4737:Nat8f2	UTSW	6	85867686	missense	possibly damaging	0.84
R0063:Nat8f2	UTSW	6	85867833	missense	possibly damaging	0.50
R0063:Nat8f2	UTSW	6	85867833	missense	possibly damaging	0.50
R0384:Nat8f2	UTSW	6	85868368	missense	possibly damaging	0.63
R0532:Nat8f2	UTSW	6	85867802	missense	probably benign	0.01
R2143:Nat8f2	UTSW	6	85868257	missense	probably benign	0.00
R3698:Nat8f2	UTSW	6	85867796	missense	probably benign	0.16
R4335:Nat8f2	UTSW	6	85868251	missense	probably damaging	1.00
R5369:Nat8f2	UTSW	6	85867872	nonsense	probably null
R5484:Nat8f2	UTSW	6	85868012	missense	possibly damaging	0.76
R5714:Nat8f2	UTSW	6	85867909	missense	probably benign	0.43
R6737:Nat8f2	UTSW	6	85868212	missense	probably benign	0.00
R7676:Nat8f2	UTSW	6	85868212	missense	probably benign	0.00
R8054:Nat8f2	UTSW	6	85867772	missense	probably benign	0.00
R9598:Nat8f2	UTSW	6	85867866	missense	probably benign	0.01
R9710:Nat8f2	UTSW	6	85867701	nonsense	probably null
Z1176:Nat8f2	UTSW	6	85868044	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGTTGCACACTGCCAGTCTC -3'
(R):5'- TGGAGTGCCTGTGACCATAG -3'

Sequencing Primer
(F):5'- GGACAACATCACTGTAACCCTGG -3'
(R):5'- TGACCATAGTATTGATGTCTGCC -3'

Posted On

2020-10-20