Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Nat6'

571561

Institutional Source

Beutler Lab

Gene Symbol

Nat6

Ensembl Gene

ENSMUSG00000079334

Gene Name

N-acetyltransferase 6

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107578887-107584050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107583299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 131 (L131P)

Ref Sequence

ENSEMBL: ENSMUSP00000091300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010192] [ENSMUST00000010195] [ENSMUST00000040059] [ENSMUST00000093785] [ENSMUST00000112387] [ENSMUST00000122985] [ENSMUST00000123005] [ENSMUST00000127380] [ENSMUST00000130053] [ENSMUST00000139274] [ENSMUST00000139581] [ENSMUST00000144392] [ENSMUST00000148440] [ENSMUST00000149487] [ENSMUST00000149638] [ENSMUST00000195725]

AlphaFold

Q9R123

Predicted Effect

probably benign
Transcript: ENSMUST00000010192

SMART Domains

Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	31	340	7.3e-101	PFAM
Pfam:IFRD_C	385	438	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010195

SMART Domains

Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	53	383	5.7e-134	PFAM
EGF	385	458	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040059

SMART Domains

Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	354	4.8e-122	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093785
AA Change: L131P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
AA Change: L131P

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	4.95e-7	PROSPERO
internal_repeat_1	40	99	4.95e-7	PROSPERO
Pfam:Acetyltransf_1	144	217	2.1e-12	PFAM
Pfam:Acetyltransf_7	147	218	9.5e-9	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	261	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112387

SMART Domains

Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	384	7e-153	PFAM
Blast:EGF	385	454	1e-42	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000122985
AA Change: L131P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334
AA Change: L131P

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123005

SMART Domains

Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	1	104	6.8e-37	PFAM
EGF	105	178	1.4e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127380
AA Change: L131P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334
AA Change: L131P

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130053
AA Change: L131P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334
AA Change: L131P

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139274
AA Change: L32P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334
AA Change: L32P

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139581
AA Change: L131P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334
AA Change: L131P

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144392

SMART Domains

Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	330	1.8e-128	PFAM
Pfam:Glyco_hydro_56	325	354	2.6e-8	PFAM
EGF	355	428	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148440

SMART Domains

Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	355	2.6e-127	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149487

SMART Domains

Protein: ENSMUSP00000117845
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	301	4.9e-103	PFAM
Pfam:Glyco_hydro_56	291	325	6.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149638
AA Change: L32P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334
AA Change: L32P

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195725

SMART Domains

Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	32	139	5.7e-28	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,476	L142P	probably benign	Het
Abca13	A	T	11: 9,291,126	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,174,373	F558L	possibly damaging	Het
Acp7	T	A	7: 28,630,882	D2V	unknown	Het
Acvr1c	T	C	2: 58,284,936	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,624,037	S1124P		Het
B4galnt1	A	T	10: 127,167,788	T207S	probably benign	Het
C2cd4d	C	A	3: 94,364,138	T237N	probably benign	Het
C8b	T	C	4: 104,780,627	C99R	probably damaging	Het
Ccnk	C	A	12: 108,193,705	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,140,360	D47G	probably benign	Het
Chid1	A	T	7: 141,529,488		probably null	Het
Cmya5	T	A	13: 93,095,700	E960V	probably damaging	Het
Col18a1	A	G	10: 77,096,284	S112P	unknown	Het
Cps1	G	A	1: 67,170,921	V637I	probably damaging	Het
Crispld1	A	G	1: 17,752,878	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,070,253	L245*	probably null	Het
Ddr2	G	T	1: 169,984,961	T654K	probably damaging	Het
Dnah10	T	C	5: 124,791,791		probably null	Het
Elavl4	C	T	4: 110,211,425		probably null	Het
Emilin1	T	C	5: 30,920,660	V921A	probably benign	Het
Evpl	T	A	11: 116,223,113	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,732,790	G101E	probably benign	Het
Fam92b	T	A	8: 120,168,603	T187S	possibly damaging	Het
Gemin4	T	C	11: 76,212,106	T610A	probably damaging	Het
Glis1	T	C	4: 107,435,683	M1T	probably null	Het
Gm14399	C	T	2: 175,130,459		probably benign	Het
Gorasp2	C	T	2: 70,679,505	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,342	V501A	possibly damaging	Het
Grik4	T	A	9: 42,622,060	Q388L	probably benign	Het
Hspg2	T	A	4: 137,551,125	D3035E	probably damaging	Het
Htr4	A	T	18: 62,412,176	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,429,043	S356P	probably damaging	Het
Klk1b22	A	G	7: 44,114,749	N34D	probably benign	Het
Lmcd1	A	G	6: 112,310,539	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,486,352	G2095E	probably damaging	Het
Macf1	T	A	4: 123,440,743	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,124,859	F631L	probably benign	Het
Mov10l1	A	G	15: 88,993,868	S170G	probably benign	Het
Muc5b	A	T	7: 141,857,502	D1395V	unknown	Het
Muc6	G	A	7: 141,640,575	T1395M	probably benign	Het
Myh15	A	G	16: 49,091,105	D300G	probably damaging	Het
Ndst4	A	G	3: 125,438,303	T174A	probably benign	Het
Nek5	T	A	8: 22,090,484	N406I	probably benign	Het
Nr2c2	G	A	6: 92,159,378	V400I	probably damaging	Het
Olfr364-ps1	G	T	2: 37,147,009	V266L	probably benign	Het
Olfr365	T	C	2: 37,202,080	Y280H	probably damaging	Het
Olfr449	G	A	6: 42,834,396		probably null	Het
Olfr554	T	C	7: 102,640,983	S246P	probably damaging	Het
Olfr612	A	T	7: 103,538,728	Y169N	probably benign	Het
Olfr787	T	A	10: 129,462,751	I25N	probably damaging	Het
Parn	T	C	16: 13,626,063		probably null	Het
Pfkl	T	C	10: 77,992,023	T468A	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,779,896	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,003,147	N442K	probably damaging	Het
Pus7	A	G	5: 23,752,344	S370P	probably damaging	Het
Ripk3	G	T	14: 55,787,284	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,271,635	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,445,528	R169W	possibly damaging	Het
Slc6a21	T	A	7: 45,282,480	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,868,106	R589Q	probably benign	Het
Slc8a2	T	C	7: 16,141,152	S442P	probably damaging	Het
Snupn	T	A	9: 56,982,744	M283K	probably damaging	Het
Steap3	A	T	1: 120,234,357	M395K	probably damaging	Het
Sv2b	G	A	7: 75,147,654	P331S	probably damaging	Het
Tlr1	A	G	5: 64,926,772	V154A	probably benign	Het
Tmem131	A	G	1: 36,796,301	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 142,037,685		probably null	Het
Trav14d-3-dv8	G	A	14: 53,078,761	R26H	probably benign	Het
Trp53	C	T	11: 69,591,255	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,199,035	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,166,886	K279*	probably null	Het
Unc80	A	G	1: 66,552,209	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,166,379	D49G	probably benign	Het
Wnt10a	A	T	1: 74,793,482	H78L	possibly damaging	Het
Zfp869	G	A	8: 69,706,478	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,551,540	V638A	probably damaging	Het

Other mutations in Nat6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02083:Nat6	APN	9	107583599	missense	probably benign	0.01
R1838:Nat6	UTSW	9	107583017	missense	possibly damaging	0.49
R1839:Nat6	UTSW	9	107583017	missense	possibly damaging	0.49
R2877:Nat6	UTSW	9	107583168	missense	possibly damaging	0.85
R2878:Nat6	UTSW	9	107583168	missense	possibly damaging	0.85
R3688:Nat6	UTSW	9	107583350	missense	possibly damaging	0.83
R4836:Nat6	UTSW	9	107583539	missense	probably damaging	1.00
R4873:Nat6	UTSW	9	107583619	missense	probably damaging	0.97
R4875:Nat6	UTSW	9	107583619	missense	probably damaging	0.97
R6029:Nat6	UTSW	9	107583554	missense	probably damaging	1.00
R6893:Nat6	UTSW	9	107583026	missense	probably damaging	0.96
R7294:Nat6	UTSW	9	107582983	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCTTACCCTGGATCCTCAACAC -3'
(R):5'- AGTACAGCTGGTCATGAGTGG -3'

Sequencing Primer
(F):5'- TGGATCCTCAACACCAGGC -3'
(R):5'- AGGTGTAGCCGTCGGAAACC -3'

Posted On

2019-09-13