Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:Naa16'

600142

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79377494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 189 (Y189H)

Ref Sequence

ENSEMBL: ENSMUSP00000022597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022597] [ENSMUST00000163486] [ENSMUST00000169500]

AlphaFold

Q9DBB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022597
AA Change: Y189H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: Y189H

Domain	Start	End	E-Value	Type
TPR	46	79	2.99e1	SMART
TPR	80	113	2.98e-3	SMART
Blast:TPR	224	257	1e-10	BLAST
TPR	374	407	9.96e0	SMART
TPR	408	441	7.47e0	SMART
low complexity region	616	633	N/A	INTRINSIC
Blast:TPR	672	705	3e-12	BLAST
low complexity region	830	841	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163486
AA Change: Y155H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: Y155H

Domain	Start	End	E-Value	Type
TPR	12	45	2.99e1	SMART
TPR	46	79	2.98e-3	SMART
Blast:TPR	190	223	3e-10	BLAST
TPR	340	373	9.96e0	SMART
TPR	374	407	7.47e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169500

SMART Domains

Protein: ENSMUSP00000127298
Gene: ENSMUSG00000022020

Domain	Start	End	E-Value	Type
PDB:4KVO\|D	1	46	1e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,286,678	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,358,871	I1083F	probably benign	Het
Acsm5	A	G	7: 119,538,129		probably benign	Het
Acyp1	G	T	12: 85,288,279	A22E	probably benign	Het
Afdn	C	A	17: 13,882,433	A1090E	probably damaging	Het
Ahdc1	T	G	4: 133,063,978	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,272,681	E602*	probably null	Het
Bora	A	G	14: 99,072,644	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,400,800	S166T	probably benign	Het
Car13	A	G	3: 14,654,888	H120R	probably damaging	Het
Cstf3	G	A	2: 104,590,581	⇒1	probably benign	Het
Dip2a	T	C	10: 76,276,625	N1080D	probably damaging	Het
Dis3	A	G	14: 99,098,797	L91P	probably benign	Het
E2f6	A	G	12: 16,820,369	D174G	possibly damaging	Het
Emsy	A	T	7: 98,600,724	S785R	probably benign	Het
Fbxl17	A	G	17: 63,356,811	I561T	probably damaging	Het
Gabra6	A	T	11: 42,321,041		probably null	Het
Gm47996	C	G	1: 151,210,794	P209A	possibly damaging	Het
Gm8765	C	G	13: 50,702,308	P661A	probably damaging	Het
Hcls1	A	G	16: 36,962,064	E365G	probably damaging	Het
Hoxa6	T	A	6: 52,206,568	T166S	possibly damaging	Het
Hydin	A	G	8: 110,509,083	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,820,345		probably benign	Het
Ifitm7	T	C	16: 13,983,746	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,680,827	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,722,908	H633L	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Kmt2e	G	A	5: 23,464,716	G67D	probably damaging	Het
Kpna6	T	C	4: 129,648,051	T518A	probably benign	Het
March11	A	G	15: 26,409,198	I328V	probably benign	Het
Mbtps1	A	G	8: 119,538,884	I308T	probably damaging	Het
Mug1	A	T	6: 121,856,288	D284V	possibly damaging	Het
Myo16	A	G	8: 10,569,913	K1488R	unknown	Het
Myom2	G	A	8: 15,083,259	G384R	probably damaging	Het
Nav3	G	A	10: 109,688,856	A2304V	probably benign	Het
Olfr1145	T	A	2: 87,810,474	V218E	probably damaging	Het
Olfr126	A	T	17: 37,850,787	Q65L	probably benign	Het
Olfr310	T	A	7: 86,269,133	I219L	probably damaging	Het
Orc5	A	T	5: 22,533,784	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,316,527		probably null	Het
Pcdhb20	A	G	18: 37,504,432	R4G	probably benign	Het
Poc1b	A	G	10: 99,129,598	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,945,856	V88A	probably benign	Het
Ptpn13	C	T	5: 103,492,224	T183M	probably benign	Het
Ptpn4	T	C	1: 119,726,037	E275G	probably damaging	Het
Rab21	A	T	10: 115,298,857	L119*	probably null	Het
Rep15	T	A	6: 147,033,140	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,783,628	E967G	probably benign	Het
Rptn	G	A	3: 93,395,729	R123K	probably benign	Het
Scn11a	A	T	9: 119,765,514	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,529,087	I696N	probably damaging	Het
Slc25a12	T	C	2: 71,311,508	E267G	probably damaging	Het
Slc5a4b	A	T	10: 76,062,299	M527K	probably benign	Het
Speg	T	A	1: 75,388,870	S632T	probably benign	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Synrg	G	T	11: 84,019,574	M933I	probably benign	Het
Tmem178b	A	T	6: 40,245,617	I89F	probably damaging	Het
Tyr	C	T	7: 87,483,820		probably null	Het
Usp30	T	A	5: 114,112,972	C237*	probably null	Het
Xpo6	G	T	7: 126,160,863	T188K	probably damaging	Het
Zfp382	G	A	7: 30,131,610	S108N	possibly damaging	Het
Zfp820	A	C	17: 21,820,128	V73G	probably damaging	Het

Other mutations in Naa16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Naa16	APN	14	79355729	missense	probably damaging	1.00
IGL01025:Naa16	APN	14	79384756	missense	probably damaging	1.00
IGL01155:Naa16	APN	14	79384715	missense	probably damaging	0.98
IGL01335:Naa16	APN	14	79345116	splice site	probably benign
IGL01981:Naa16	APN	14	79381516	missense	probably benign	0.05
IGL02230:Naa16	APN	14	79377361	splice site	probably benign
IGL02313:Naa16	APN	14	79384668	missense	probably damaging	1.00
IGL02418:Naa16	APN	14	79383366	missense	probably damaging	1.00
IGL02544:Naa16	APN	14	79335820	missense	probably damaging	1.00
IGL03051:Naa16	APN	14	79369082	missense	probably benign	0.01
IGL03064:Naa16	APN	14	79339628	missense	probably damaging	0.98
IGL03205:Naa16	APN	14	79356512	missense	possibly damaging	0.89
PIT4508001:Naa16	UTSW	14	79369087	missense	probably benign	0.15
R0651:Naa16	UTSW	14	79351392	missense	probably damaging	1.00
R1429:Naa16	UTSW	14	79359527	missense	probably benign	0.01
R1674:Naa16	UTSW	14	79387057	start codon destroyed	probably null	0.65
R1693:Naa16	UTSW	14	79351456	missense	probably damaging	1.00
R1874:Naa16	UTSW	14	79355743	missense	possibly damaging	0.62
R1992:Naa16	UTSW	14	79356491	missense	probably damaging	1.00
R2015:Naa16	UTSW	14	79345059	missense	probably damaging	1.00
R2391:Naa16	UTSW	14	79370049	missense	probably benign	0.16
R2847:Naa16	UTSW	14	79335883	missense	probably damaging	1.00
R2848:Naa16	UTSW	14	79335883	missense	probably damaging	1.00
R2877:Naa16	UTSW	14	79343298	missense	probably benign	0.00
R3884:Naa16	UTSW	14	79343262	missense	probably damaging	0.98
R4001:Naa16	UTSW	14	79343121	splice site	probably null
R4199:Naa16	UTSW	14	79355871	missense	probably damaging	1.00
R4638:Naa16	UTSW	14	79340033	splice site	probably null
R4676:Naa16	UTSW	14	79336348	unclassified	probably benign
R4690:Naa16	UTSW	14	79345057	missense	probably damaging	1.00
R4952:Naa16	UTSW	14	79345085	missense	probably damaging	1.00
R5087:Naa16	UTSW	14	79377415	missense	possibly damaging	0.68
R5104:Naa16	UTSW	14	79384700	nonsense	probably null
R5729:Naa16	UTSW	14	79355780	missense	probably damaging	1.00
R6178:Naa16	UTSW	14	79383340	missense	possibly damaging	0.93
R6960:Naa16	UTSW	14	79359471	missense	possibly damaging	0.65
R7936:Naa16	UTSW	14	79341046	missense	possibly damaging	0.47
R8356:Naa16	UTSW	14	79359475	missense	probably benign	0.00
R8456:Naa16	UTSW	14	79359475	missense	probably benign	0.00
R8892:Naa16	UTSW	14	79390576	missense	probably benign	0.32
R8931:Naa16	UTSW	14	79344955	missense	probably damaging	1.00
R9010:Naa16	UTSW	14	79370042	missense	probably benign	0.01
R9068:Naa16	UTSW	14	79374849	missense	probably benign	0.18
R9360:Naa16	UTSW	14	79356503	missense	probably benign	0.05
R9688:Naa16	UTSW	14	79335869	nonsense	probably null
X0064:Naa16	UTSW	14	79351389	missense	probably damaging	1.00
Z1177:Naa16	UTSW	14	79344979	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGACAGCAGCTCCTCAG -3'
(R):5'- AGATGGAATTAATCATTTGCTGACC -3'

Sequencing Primer
(F):5'- CTCACCTCAAAAGAATGTCATGGTG -3'
(R):5'- GCTGACCTATTTTTAACTGCTTCTG -3'

Posted On

2019-11-26