Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Nsun6'

608673

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

045932-MU

Accession Numbers

Essential gene?

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

Stock #

R7880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14999942-15059880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15001190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 455 (C455W)

Ref Sequence

ENSEMBL: ENSMUSP00000028034 (fasta)

Gene Model

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

AlphaFold

Q7TS68

Predicted Effect

probably damaging
Transcript: ENSMUST00000028034
AA Change: C455W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: C455W

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 damaging
Transcript: ENSMUST00000076435
AA Change: C455W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: C455W

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 damaging
Transcript: ENSMUST00000114715
AA Change: C404W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: C404W

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 damaging
Transcript: ENSMUST00000195749
AA Change: C455W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: C455W

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: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,511,691 (GRCm39)	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Akap13	A	G	7: 75,235,964 (GRCm39)	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,423,087 (GRCm39)	A993V	probably benign	Het
Asxl3	C	T	18: 22,655,208 (GRCm39)	P1073S	possibly damaging	Het
Bmp3	T	G	5: 99,020,434 (GRCm39)	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,326,116 (GRCm39)	S1078F	probably damaging	Het
Cd101	A	G	3: 100,915,182 (GRCm39)	L799P	probably benign	Het
Chst13	C	T	6: 90,302,062 (GRCm39)	R28H	possibly damaging	Het
CN725425	T	A	15: 91,130,308 (GRCm39)	C390*	probably null	Het
Crabp1	C	A	9: 54,672,942 (GRCm39)	C82*	probably null	Het
Cyp2b23	A	C	7: 26,372,559 (GRCm39)	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,577,081 (GRCm39)	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,012,702 (GRCm39)	D839G	possibly damaging	Het
Espnl	A	T	1: 91,272,488 (GRCm39)	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,930,802 (GRCm39)	Q93K	probably benign	Het
Focad	C	T	4: 88,319,407 (GRCm39)	R1539C	unknown	Het
Gm14443	T	A	2: 175,011,163 (GRCm39)	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gramd1c	C	G	16: 43,812,439 (GRCm39)	A193P	probably benign	Het
Gsn	A	G	2: 35,173,939 (GRCm39)	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,194,712 (GRCm39)	I902F	probably damaging	Het
H2-T9	T	A	17: 36,438,761 (GRCm39)	H210L	possibly damaging	Het
Heg1	T	C	16: 33,539,879 (GRCm39)	S280P	possibly damaging	Het
Herc1	G	T	9: 66,415,506 (GRCm39)	R4827L	probably damaging	Het
Igsf21	A	G	4: 139,884,819 (GRCm39)	C46R	probably damaging	Het
Kansl1	G	T	11: 104,314,979 (GRCm39)	A353D	probably damaging	Het
Kcnab3	A	G	11: 69,222,290 (GRCm39)	Y311C	probably damaging	Het
Kctd18	A	G	1: 58,006,778 (GRCm39)	I24T	possibly damaging	Het
Lpcat4	C	A	2: 112,070,376 (GRCm39)	H30N	probably benign	Het
Lrrc4c	A	G	2: 97,461,143 (GRCm39)	I590V	probably benign	Het
Lrrc69	T	C	4: 14,703,946 (GRCm39)	I291M	possibly damaging	Het
Or12e1	T	A	2: 87,022,434 (GRCm39)	C134*	probably null	Het
Or4c3	A	T	2: 89,852,381 (GRCm39)	F10I	probably damaging	Het
Or5ak22	G	T	2: 85,230,379 (GRCm39)	S166Y	possibly damaging	Het
Or7g19	T	G	9: 18,856,024 (GRCm39)	L27V	probably benign	Het
Orc6	T	C	8: 86,031,873 (GRCm39)	I162T	probably benign	Het
Pex13	A	T	11: 23,599,369 (GRCm39)	S381T	probably benign	Het
Ppil1	G	A	17: 29,480,762 (GRCm39)	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,155 (GRCm39)	I766V	probably benign	Het
Rab32	C	T	10: 10,422,159 (GRCm39)	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,954 (GRCm39)	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 126,191,132 (GRCm39)	T953A	probably damaging	Het
Snapc3	T	C	4: 83,353,431 (GRCm39)	S157P	probably damaging	Het
Spink5	A	G	18: 44,119,393 (GRCm39)	R235G	probably benign	Het
Stx5a	G	A	19: 8,719,692 (GRCm39)	G19D	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Taf4	G	A	2: 179,577,726 (GRCm39)	R532*	probably null	Het
Tmpo	T	A	10: 91,001,892 (GRCm39)	K106*	probably null	Het
Trnt1	T	C	6: 106,746,517 (GRCm39)		probably null	Het
Vmn1r228	A	T	17: 20,996,672 (GRCm39)	I282N	probably damaging	Het
Vps13d	A	T	4: 144,907,684 (GRCm39)		probably null	Het
Zfp703	A	G	8: 27,468,718 (GRCm39)	I51V	unknown	Het
Zfp787	A	G	7: 6,135,190 (GRCm39)	F354L	probably benign	Het
Znrf2	T	C	6: 54,794,332 (GRCm39)	V111A	probably benign	Het
Zwint	G	T	10: 72,492,924 (GRCm39)	R182L	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
R7587:Nsun6	UTSW	2	15,044,636 (GRCm39)	missense	probably benign
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'- AACCACGTATGCATGCTGC -3'
(R):5'- GCATAGACAACCAGTTCTGCTC -3'

Sequencing Primer
(F):5'- CGATCCCAGGGAAGCCATTAG -3'
(R):5'- ATAGACAACCAGTTCTGCTCATTTC -3'

Posted On

2019-12-20