Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Nat8f2'

592449

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 #

R7676 (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 T at 85868212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 56 (M56K)

Ref Sequence

ENSEMBL: ENSMUSP00000044587 (fasta)

Gene Model

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

AlphaFold

Q8CHQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000045008
AA Change: M56K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: M56K

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	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
R8054:Nat8f2	UTSW	6	85867772	missense	probably benign	0.00
R8415:Nat8f2	UTSW	6	85868042	missense	probably damaging	0.99
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'- TCTGCTTCTTCCCTAATGGAGG -3'
(R):5'- ATGGCTGCTTATCACATCCG -3'

Sequencing Primer
(F):5'- TCCTTGACTGGCTGAGCAC -3'
(R):5'- GCTGCTTATCACATCCGACAGTAC -3'

Posted On

2019-11-12