Mutagenetix > Incidental Mutation

Incidental Mutation 'R1989:Nsun6'

222947

Institutional Source

Beutler Lab

Gene Symbol

Nsun6

Ensembl Gene

ENSMUSG00000026707

Gene Name

NOL1/NOP2/Sun domain family member 6

Synonyms

4933403D21Rik, NOPD1, 4933414E04Rik

MMRRC Submission

040001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14999942-15059880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15042995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 155 (N155K)

Ref Sequence

ENSEMBL: ENSMUSP00000141924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028034] [ENSMUST00000076435] [ENSMUST00000114713] [ENSMUST00000114715] [ENSMUST00000195749]

AlphaFold

Q7TS68

Predicted Effect

probably benign
Transcript: ENSMUST00000028034
AA Change: N155K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: N155K

Domain	Start	End	E-Value	Type
PUA	112	203	1.96e-4	SMART
Pfam:FtsJ	216	397	1.4e-8	PFAM
Pfam:Methyltransf_31	232	423	1.3e-9	PFAM
Pfam:Methyltransf_18	234	373	1.4e-8	PFAM
Pfam:Methyltransf_26	235	374	2.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076435
AA Change: N155K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: N155K

Domain	Start	End	E-Value	Type
PUA	112	203	1.96e-4	SMART
Pfam:FtsJ	224	392	4.7e-9	PFAM
Pfam:Nol1_Nop2_Fmu	227	464	4.7e-48	PFAM
Pfam:Methyltransf_31	232	423	8.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114713

Predicted Effect

probably benign
Transcript: ENSMUST00000114715
AA Change: N104K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: N104K

Domain	Start	End	E-Value	Type
PUA	61	152	1.96e-4	SMART
Pfam:FtsJ	165	346	4.5e-9	PFAM
Pfam:Methyltransf_31	181	372	2.3e-10	PFAM
Pfam:Methyltransf_18	183	322	2.8e-9	PFAM
Pfam:Methyltransf_26	184	323	5.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195431

Predicted Effect

probably benign
Transcript: ENSMUST00000195749
AA Change: N155K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: N155K

Domain	Start	End	E-Value	Type
PUA	112	203	1.96e-4	SMART
Pfam:FtsJ	216	397	1.4e-8	PFAM
Pfam:Methyltransf_31	232	423	1.3e-9	PFAM
Pfam:Methyltransf_18	234	373	1.4e-8	PFAM
Pfam:Methyltransf_26	235	374	2.9e-9	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
Acaca	T	C	11: 84,153,355 (GRCm39)	M921T	probably damaging	Het
Actn2	A	T	13: 12,355,276 (GRCm39)	W36R	probably benign	Het
Adcy9	A	T	16: 4,116,591 (GRCm39)	V643D	probably damaging	Het
Agbl4	A	T	4: 111,423,879 (GRCm39)	T302S	possibly damaging	Het
Akap13	A	G	7: 75,354,264 (GRCm39)	N1795S	probably benign	Het
Ang	T	A	14: 51,339,008 (GRCm39)	C50S	probably damaging	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Asxl3	T	C	18: 22,585,420 (GRCm39)	V115A	probably damaging	Het
B4galt5	A	T	2: 167,146,923 (GRCm39)	W304R	probably damaging	Het
Bptf	T	C	11: 106,965,652 (GRCm39)	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,611,386 (GRCm39)	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,568,970 (GRCm39)	I881F	probably damaging	Het
Ccn1	A	T	3: 145,353,498 (GRCm39)	Y355N	probably benign	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Cyp2f2	A	G	7: 26,828,628 (GRCm39)	D90G	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
E2f8	T	C	7: 48,523,028 (GRCm39)	E349G	probably benign	Het
Ebf1	T	C	11: 44,512,793 (GRCm39)	M134T	probably damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Focad	T	C	4: 88,151,021 (GRCm39)		probably null	Het
Gabra1	A	T	11: 42,045,842 (GRCm39)	D89E	probably damaging	Het
Hip1r	G	T	5: 124,127,761 (GRCm39)	V90F	probably damaging	Het
Ifi213	C	A	1: 173,396,374 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,716 (GRCm39)	I136T	probably benign	Het
Kmt2c	A	G	5: 25,703,542 (GRCm39)	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,931,432 (GRCm39)	S43L	probably damaging	Het
Macf1	A	G	4: 123,391,519 (GRCm39)		probably null	Het
Mad1l1	A	G	5: 140,289,425 (GRCm39)	S167P	probably benign	Het
Maml3	G	T	3: 51,605,179 (GRCm39)	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,214,020 (GRCm39)	M1T	probably null	Het
Mkrn2os	G	T	6: 115,566,311 (GRCm39)	T88K	probably damaging	Het
Mob3c	T	C	4: 115,688,754 (GRCm39)	Y96H	probably damaging	Het
Mpo	T	A	11: 87,694,298 (GRCm39)	I96N	probably damaging	Het
Mup17	T	A	4: 61,511,860 (GRCm39)	Y138F	probably benign	Het
Myh8	A	G	11: 67,183,550 (GRCm39)	I754V	probably benign	Het
Naa30	T	A	14: 49,415,597 (GRCm39)	L289*	probably null	Het
Nap1l4	A	C	7: 143,080,921 (GRCm39)	F292V	probably damaging	Het
Nek5	T	A	8: 22,601,185 (GRCm39)	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,273,338 (GRCm39)	E880G	probably benign	Het
Or2aj5	A	T	16: 19,425,407 (GRCm39)	Y4N	probably benign	Het
Or4c102	T	A	2: 88,422,943 (GRCm39)	I265K	probably damaging	Het
Or4f62	T	A	2: 111,986,722 (GRCm39)	I142N	probably benign	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8d23	T	C	9: 38,842,171 (GRCm39)	S235P	possibly damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,995,025 (GRCm39)	V559M	probably benign	Het
Ptgfr	A	T	3: 151,540,976 (GRCm39)	Y177*	probably null	Het
Rnase10	A	T	14: 51,247,095 (GRCm39)	I121L	probably benign	Het
Sall2	G	A	14: 52,551,896 (GRCm39)	P431L	probably damaging	Het
Sbf2	A	G	7: 109,948,130 (GRCm39)	V1194A	possibly damaging	Het
Scimp	T	C	11: 70,682,402 (GRCm39)	K105E	possibly damaging	Het
Scrt2	A	T	2: 151,924,007 (GRCm39)	D13V	probably damaging	Het
Snx19	A	G	9: 30,339,404 (GRCm39)	S181G	possibly damaging	Het
Spata2	G	A	2: 167,326,234 (GRCm39)	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srpk2	G	A	5: 23,723,421 (GRCm39)	A565V	probably damaging	Het
Stard9	A	G	2: 120,531,887 (GRCm39)	I2715V	probably benign	Het
Sval1	A	G	6: 41,932,425 (GRCm39)	T92A	possibly damaging	Het
Synrg	T	C	11: 83,910,781 (GRCm39)		probably null	Het
Tlr12	T	C	4: 128,510,862 (GRCm39)	T463A	probably benign	Het
Tnxb	A	G	17: 34,902,351 (GRCm39)	H945R	probably benign	Het
Tnxb	A	T	17: 34,912,859 (GRCm39)	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,579,190 (GRCm39)	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,978,708 (GRCm39)	V796A	probably benign	Het
Trpm1	A	T	7: 63,858,780 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ttn	T	A	2: 76,581,285 (GRCm39)	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,601,131 (GRCm39)	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,258,216 (GRCm39)	N258S	probably damaging	Het
Upk1b	A	T	16: 38,604,603 (GRCm39)	W141R	possibly damaging	Het
Vars1	T	C	17: 35,230,814 (GRCm39)	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,815,788 (GRCm39)	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,614,500 (GRCm39)	F363L	probably damaging	Het
Vmn2r66	A	T	7: 84,661,201 (GRCm39)	F10I	probably benign	Het
Wbp2	C	T	11: 115,971,047 (GRCm39)		probably null	Het
Yy1	T	C	12: 108,772,534 (GRCm39)	L270P	probably damaging	Het
Zan	A	T	5: 137,418,268 (GRCm39)	C2943*	probably null	Het
Zfp51	T	A	17: 21,676,582 (GRCm39)	Y18N	possibly damaging	Het

Other mutations in Nsun6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Nsun6	APN	2	15,053,789 (GRCm39)	missense	possibly damaging	0.69
IGL02347:Nsun6	APN	2	15,034,831 (GRCm39)	splice site	probably benign
IGL03352:Nsun6	APN	2	15,001,157 (GRCm39)	nonsense	probably null
R0371:Nsun6	UTSW	2	15,034,898 (GRCm39)	missense	probably damaging	1.00
R0639:Nsun6	UTSW	2	15,001,147 (GRCm39)	missense	probably benign
R0737:Nsun6	UTSW	2	15,001,285 (GRCm39)	missense	probably damaging	1.00
R1076:Nsun6	UTSW	2	15,014,283 (GRCm39)	missense	probably benign	0.01
R1676:Nsun6	UTSW	2	15,052,024 (GRCm39)	nonsense	probably null
R1842:Nsun6	UTSW	2	15,014,288 (GRCm39)	missense	probably damaging	0.98
R2091:Nsun6	UTSW	2	15,044,542 (GRCm39)	critical splice donor site	probably null
R2972:Nsun6	UTSW	2	15,042,883 (GRCm39)	critical splice donor site	probably null
R3276:Nsun6	UTSW	2	15,014,215 (GRCm39)	splice site	probably benign
R4386:Nsun6	UTSW	2	15,001,333 (GRCm39)	missense	probably benign	0.05
R4761:Nsun6	UTSW	2	15,034,872 (GRCm39)	missense	possibly damaging	0.88
R4782:Nsun6	UTSW	2	15,041,137 (GRCm39)	missense	possibly damaging	0.88
R6701:Nsun6	UTSW	2	15,041,113 (GRCm39)	missense	probably benign	0.00
R6890:Nsun6	UTSW	2	15,053,788 (GRCm39)	missense	probably damaging	1.00
R7555:Nsun6	UTSW	2	15,001,150 (GRCm39)	missense	possibly damaging	0.73
R7587:Nsun6	UTSW	2	15,044,636 (GRCm39)	missense	probably benign
R7880:Nsun6	UTSW	2	15,001,190 (GRCm39)	missense	probably damaging	0.99
R7888:Nsun6	UTSW	2	15,001,355 (GRCm39)	missense	probably benign	0.01
R8160:Nsun6	UTSW	2	15,014,219 (GRCm39)	critical splice donor site	probably null
R8458:Nsun6	UTSW	2	15,034,863 (GRCm39)	missense	probably benign
R8784:Nsun6	UTSW	2	15,001,306 (GRCm39)	nonsense	probably null
R9320:Nsun6	UTSW	2	15,047,048 (GRCm39)	missense	probably benign	0.01
R9643:Nsun6	UTSW	2	15,047,106 (GRCm39)	missense	probably benign
R9710:Nsun6	UTSW	2	15,003,009 (GRCm39)	missense	probably benign
Z1177:Nsun6	UTSW	2	15,044,631 (GRCm39)	missense	probably benign
Z1177:Nsun6	UTSW	2	15,034,914 (GRCm39)	missense	probably damaging	1.00
Z1192:Nsun6	UTSW	2	15,042,918 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTCAGCAATGCACTCAC -3'
(R):5'- TGACATAAGGAGCCAGTTTGTC -3'

Sequencing Primer
(F):5'- TTGACCAAAAAGGAGCTCTTTCC -3'
(R):5'- GACATAAGGAGCCAGTTTGTCTTTTC -3'

Posted On

2014-08-25