Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Nsun6'

587187

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

045712-MU

Accession Numbers

Essential gene?

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

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14999942-15059880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15044636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 110 (Q110R)

Ref Sequence

ENSEMBL: ENSMUSP00000028034 (fasta)

Gene Model

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

AlphaFold

Q7TS68

Predicted Effect

probably benign
Transcript: ENSMUST00000028034
AA Change: Q110R

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

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: Q110R

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: Q110R

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

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: Q110R

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: Q59R

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

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: Q59R

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

probably benign
Transcript: ENSMUST00000195749
AA Change: Q110R

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

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: Q110R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	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
R1989:Nsun6	UTSW	2	15,042,995 (GRCm39)	missense	probably benign
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
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'- CTCAGGAAGTATCTAACAAAGGCAG -3'
(R):5'- TGCCCATATCCATCCACTAATATG -3'

Sequencing Primer
(F):5'- TCTAACAAAGGCAGATTTAACGTATG -3'
(R):5'- GCAAGCTTATGGTACTGG -3'

Posted On

2019-10-24