Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Nsun6'

419777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsun6

Ensembl Gene

ENSMUSG00000026707

Gene Name

NOL1/NOP2/Sun domain family member 6

Synonyms

4933403D21Rik, NOPD1, 4933414E04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

14999942-15059880 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 15001157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 466 (C466*)

Ref Sequence

ENSEMBL: ENSMUSP00000141924 (fasta)

Gene Model

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

AlphaFold

Q7TS68

Predicted Effect

probably null
Transcript: ENSMUST00000028034
AA Change: C466*

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: C466*

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 null
Transcript: ENSMUST00000076435
AA Change: C466*

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: C466*

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 null
Transcript: ENSMUST00000114715
AA Change: C415*

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: C415*

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 null
Transcript: ENSMUST00000195749
AA Change: C466*

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: C466*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arap3	T	C	18: 38,114,355 (GRCm39)		probably benign	Het
Arhgap45	T	A	10: 79,866,585 (GRCm39)	N1029K	probably damaging	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nlrp4e	T	A	7: 23,020,251 (GRCm39)	L246Q	probably damaging	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil1	C	T	5: 128,828,136 (GRCm39)	T712I	probably benign	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Sh3glb2	A	G	2: 30,235,363 (GRCm39)	V370A	probably damaging	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	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
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
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

Posted On

2016-08-02