Mutagenetix > Incidental Mutation

Incidental Mutation 'R6178:Naa16'

487895

Institutional Source

Beutler Lab

Gene Symbol

Naa16

Ensembl Gene

ENSMUSG00000022020

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Synonyms

Narg1l, 1300019C06Rik

MMRRC Submission

044320-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79325269-79390778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79383340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 100 (I100V)

Ref Sequence

ENSEMBL: ENSMUSP00000022597 (fasta)

Gene Model

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

AlphaFold

Q9DBB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022597
AA Change: I100V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: I100V

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

possibly damaging
Transcript: ENSMUST00000163486
AA Change: I66V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: I66V

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

noncoding transcript
Transcript: ENSMUST00000165337

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,029,044	I61V	probably benign	Het
Afg3l2	G	A	18: 67,409,528	T616I	possibly damaging	Het
Aktip	T	C	8: 91,126,043	N195S	probably damaging	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Atg7	T	A	6: 114,724,895	I621N	probably damaging	Het
Becn1	T	A	11: 101,291,510	I283F	probably damaging	Het
C4b	T	C	17: 34,733,406	T1220A	probably benign	Het
Celsr1	C	A	15: 85,901,021	R3004M	probably benign	Het
Clspn	A	T	4: 126,577,736		probably null	Het
Csmd3	T	C	15: 48,673,458	Y116C	probably damaging	Het
Dcp1a	T	G	14: 30,523,304	*603G	probably null	Het
Dmrtc1b	C	T	X: 102,713,563	P205S	possibly damaging	Het
Fev	G	T	1: 74,884,539		probably benign	Het
Fry	T	A	5: 150,454,522	V393E	probably damaging	Het
Gm30646	A	G	7: 30,432,656		probably null	Het
Gm36028	T	C	16: 37,856,060	Y115C	probably damaging	Het
Gm3676	C	T	14: 41,641,495	E175K	probably benign	Het
Gm4847	T	C	1: 166,642,336	Y56C	probably damaging	Het
Gm5422	T	C	10: 31,249,692		noncoding transcript	Het
Gstm6	A	G	3: 107,941,081	V174A	probably benign	Het
Isoc1	G	T	18: 58,671,592	V191F	possibly damaging	Het
Kalrn	T	A	16: 34,053,639	D132V	possibly damaging	Het
Kcp	T	C	6: 29,482,888	D1394G	possibly damaging	Het
March10	T	G	11: 105,389,614	D615A	probably damaging	Het
Mau2	A	G	8: 70,042,537	I50T	probably damaging	Het
Mgp	A	G	6: 136,872,724	C79R	probably damaging	Het
Mpdz	T	A	4: 81,308,365	K1344N	probably damaging	Het
Mrgpre	T	A	7: 143,780,971	Y265F	possibly damaging	Het
Mro	G	A	18: 73,873,224	V80M	possibly damaging	Het
Mrpl44	G	T	1: 79,778,178	C167F	possibly damaging	Het
Muc5b	A	G	7: 141,856,342	M1218V	probably null	Het
Nup205	A	T	6: 35,243,843	Y1860F	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1195	T	C	2: 88,683,633	Y33C	probably damaging	Het
Olfr293	A	G	7: 86,664,611	I316M	probably benign	Het
Olfr432	A	T	1: 174,050,967	Y198F	probably benign	Het
Plcb3	A	G	19: 6,954,703		probably null	Het
Pnpla3	G	A	15: 84,180,931	A309T	probably benign	Het
Ranbp10	A	G	8: 105,771,664	S624P	possibly damaging	Het
Ripor2	T	C	13: 24,710,130	S714P	possibly damaging	Het
Robo4	C	T	9: 37,405,630	Q414*	probably null	Het
Shc2	A	G	10: 79,630,120	I161T	probably damaging	Het
Slc35b2	C	T	17: 45,566,376	T143I	probably benign	Het
Slc39a13	T	C	2: 91,068,535	D77G	probably damaging	Het
Snx6	A	C	12: 54,760,464	D243E	probably damaging	Het
Taar8b	A	G	10: 24,091,813	V161A	probably benign	Het
Tbr1	T	A	2: 61,804,815	D36E	possibly damaging	Het
Tdpoz2	T	C	3: 93,652,311	N118S	probably benign	Het
Tgfb1i1	T	C	7: 128,253,345	F478L	probably damaging	Het
Tmprss11f	T	C	5: 86,556,978	D27G	probably benign	Het
Trim30d	T	G	7: 104,487,995	M1L	probably damaging	Het
Trpm7	A	G	2: 126,837,381	V420A	probably damaging	Het
Ubap2	G	T	4: 41,206,981	P199H	probably benign	Het
Ubash3b	T	C	9: 41,014,916	T512A	probably damaging	Het
Zfp65	G	A	13: 67,710,318	P76S	probably benign	Het
Zic5	A	T	14: 122,459,336	H622Q	unknown	Het
Zpld1	A	T	16: 55,233,630	N266K	probably damaging	Het
Zswim1	A	G	2: 164,826,052		probably null	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
R6960:Naa16	UTSW	14	79359471	missense	possibly damaging	0.65
R7794:Naa16	UTSW	14	79377494	missense	probably damaging	1.00
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'- GGCACACACCTTCAATCCCATTA -3'
(R):5'- TTACAAAAGCAAGGGAATTGAATGTA -3'

Sequencing Primer
(F):5'- CCAGATCACATTGCAGATGGTCG -3'
(R):5'- CCAGCTGACTAGTCAAGGGTTG -3'

Posted On

2017-10-10