Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Naa11'

593144

Institutional Source

Beutler Lab

Gene Symbol

Naa11

Ensembl Gene

ENSMUSG00000046000

Gene Name

N(alpha)-acetyltransferase 11, NatA catalytic subunit

Synonyms

Ard1b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97530068-97540189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97539648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 170 (V170E)

Ref Sequence

ENSEMBL: ENSMUSP00000057336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060265]

AlphaFold

Q3UX61

Predicted Effect

probably benign
Transcript: ENSMUST00000060265
AA Change: V170E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057336
Gene: ENSMUSG00000046000
AA Change: V170E

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	32	125	2.7e-8	PFAM
Pfam:Acetyltransf_7	40	129	1.5e-9	PFAM
Pfam:Acetyltransf_1	46	129	1.4e-18	PFAM
Pfam:FR47	56	137	1.1e-9	PFAM
low complexity region	195	206	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181724

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,297,341 (GRCm39)	K2383R	probably benign	Het
Acly	C	T	11: 100,395,680 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,468,311 (GRCm39)	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,357,007 (GRCm39)	D419E	probably benign	Het
Celsr2	G	T	3: 108,305,085 (GRCm39)	P2165T	probably benign	Het
Clk4	A	G	11: 51,172,225 (GRCm39)	D476G	probably benign	Het
Dera	A	G	6: 137,813,878 (GRCm39)	T10A		Het
Dip2c	A	T	13: 9,654,617 (GRCm39)	T742S	probably benign	Het
Dohh	C	A	10: 81,223,640 (GRCm39)	A231E	probably benign	Het
Dot1l	T	G	10: 80,625,202 (GRCm39)	S1150A	possibly damaging	Het
Eea1	T	A	10: 95,862,460 (GRCm39)	I794N	probably benign	Het
En2	T	C	5: 28,375,287 (GRCm39)	S277P	probably damaging	Het
Erich1	A	G	8: 14,080,691 (GRCm39)	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224 (GRCm38)	N1779S	probably damaging	Het
Frzb	T	A	2: 80,254,979 (GRCm39)	T186S	probably benign	Het
Gdf7	T	A	12: 8,348,257 (GRCm39)	R347*	probably null	Het
Ighv9-4	T	C	12: 114,263,883 (GRCm39)	I17V	not run	Het
Ipo13	G	A	4: 117,769,088 (GRCm39)	P235S	probably benign	Het
Itga2	C	A	13: 115,002,796 (GRCm39)	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,365,925 (GRCm39)		probably benign	Het
Kcnk10	A	G	12: 98,401,355 (GRCm39)	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,576,476 (GRCm39)	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,760,001 (GRCm39)	D1086N	unknown	Het
Kntc1	A	G	5: 123,897,152 (GRCm39)	I172V	probably benign	Het
Maip1	A	G	1: 57,451,003 (GRCm39)	E215G	probably damaging	Het
Mms19	A	T	19: 41,943,607 (GRCm39)	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,962,157 (GRCm39)	V185A	probably damaging	Het
Ncapg	C	T	5: 45,857,227 (GRCm39)	P980S	probably benign	Het
Or2aj5	T	C	16: 19,424,485 (GRCm39)	N310S	probably benign	Het
Pbxip1	A	G	3: 89,355,506 (GRCm39)	D675G	probably damaging	Het
Pdlim5	A	G	3: 141,983,608 (GRCm39)	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,804,390 (GRCm39)	I2184F		Het
Plau	A	G	14: 20,889,866 (GRCm39)	Y237C	probably damaging	Het
Ppl	T	C	16: 4,915,806 (GRCm39)	T586A	probably benign	Het
Rapgef6	T	G	11: 54,551,901 (GRCm39)	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,190,694 (GRCm39)	G17D	unknown	Het
Sema3b	T	C	9: 107,481,013 (GRCm39)	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,485,331 (GRCm39)	I297T	probably damaging	Het
Slit1	A	G	19: 41,639,128 (GRCm39)	F261L	probably benign	Het
Tcp10a	T	A	17: 7,612,507 (GRCm39)	V433D	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tll1	G	T	8: 64,574,526 (GRCm39)	Y109*	probably null	Het
Tmem79	A	G	3: 88,239,888 (GRCm39)	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,235,199 (GRCm39)	S55L	probably benign	Het
Ubd	T	C	17: 37,504,865 (GRCm39)		probably null	Het
Ubl3	C	A	5: 148,442,985 (GRCm39)	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,821,867 (GRCm39)	D72V	probably damaging	Het
Wdr55	T	C	18: 36,895,076 (GRCm39)	S81P	probably damaging	Het
Wtip	T	C	7: 33,816,044 (GRCm39)	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,099,085 (GRCm39)	S36A	probably benign	Het

Other mutations in Naa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4469001:Naa11	UTSW	5	97,539,485 (GRCm39)	critical splice donor site	probably null
R2567:Naa11	UTSW	5	97,539,618 (GRCm39)	missense	probably benign
R3686:Naa11	UTSW	5	97,539,648 (GRCm39)	missense	probably benign	0.00
R4004:Naa11	UTSW	5	97,539,652 (GRCm39)	missense	probably benign
R6268:Naa11	UTSW	5	97,540,069 (GRCm39)	missense	probably damaging	1.00
R8310:Naa11	UTSW	5	97,539,737 (GRCm39)	missense	probably damaging	1.00
R8701:Naa11	UTSW	5	97,539,817 (GRCm39)	missense	possibly damaging	0.95
R8715:Naa11	UTSW	5	97,540,066 (GRCm39)	missense	probably damaging	1.00
R8958:Naa11	UTSW	5	97,540,084 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCAAGCTATGACTCAAAGG -3'
(R):5'- TGCACGTCAGGAAGAGCAAC -3'

Sequencing Primer
(F):5'- CCAAGCTATGACTCAAAGGGGTAC -3'
(R):5'- AGAGCAACAGGGCGGCC -3'

Posted On

2019-11-12