Mutagenetix > Incidental Mutation

Incidental Mutation 'R0737:Nsun6'

70494

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

038918-MU

Accession Numbers

Essential gene?

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

Stock #

R0737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14999942-15059880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15001285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 424 (F424I)

Ref Sequence

ENSEMBL: ENSMUSP00000141924 (fasta)

Gene Model

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

AlphaFold

Q7TS68

Predicted Effect

probably damaging
Transcript: ENSMUST00000028034
AA Change: F424I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: F424I

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: F424I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: F424I

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: F373I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: F373I

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: F424I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: F424I

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: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	T	A	X: 69,437,813 (GRCm39)		probably benign	Het
Aff4	T	A	11: 53,301,780 (GRCm39)	L1043*	probably null	Het
Ankrd11	G	T	8: 123,622,575 (GRCm39)	R426S	probably damaging	Het
Atm	T	A	9: 53,367,866 (GRCm39)	N2422I	probably damaging	Het
Bahcc1	C	A	11: 120,163,667 (GRCm39)	P655Q	probably damaging	Het
Baz2a	A	G	10: 127,951,949 (GRCm39)	I556V	possibly damaging	Het
Ccdc33	T	C	9: 57,989,331 (GRCm39)	D114G	probably damaging	Het
Cdk5rap2	T	C	4: 70,255,612 (GRCm39)	H424R	probably benign	Het
Cfap57	T	C	4: 118,438,299 (GRCm39)	E864G	possibly damaging	Het
Cit	T	A	5: 116,084,978 (GRCm39)	S836R	probably damaging	Het
Clip4	C	T	17: 72,144,694 (GRCm39)	Q95*	probably null	Het
Col17a1	C	T	19: 47,657,872 (GRCm39)	G433S	possibly damaging	Het
Col6a3	A	G	1: 90,756,020 (GRCm39)	F90L	probably damaging	Het
Cybc1	C	T	11: 121,118,068 (GRCm39)		probably null	Het
Degs1l	G	A	1: 180,882,944 (GRCm39)	M235I	probably benign	Het
Dnah9	T	C	11: 65,998,724 (GRCm39)	H1108R	probably damaging	Het
Elac1	A	T	18: 73,872,110 (GRCm39)	M295K	probably damaging	Het
Epas1	G	T	17: 87,136,884 (GRCm39)	G816C	possibly damaging	Het
Ermap	C	A	4: 119,035,707 (GRCm39)	C427F	probably damaging	Het
Fbxo44	T	C	4: 148,243,266 (GRCm39)		probably benign	Het
Fmo4	T	A	1: 162,635,961 (GRCm39)	K14*	probably null	Het
Gadl1	G	A	9: 115,903,055 (GRCm39)	M461I	probably damaging	Het
Garnl3	T	A	2: 32,880,654 (GRCm39)	I868F	probably damaging	Het
Gm7168	A	G	17: 14,169,245 (GRCm39)	D204G	probably damaging	Het
Hs6st3	T	C	14: 120,106,795 (GRCm39)	F401S	possibly damaging	Het
Kcnmb1	A	T	11: 33,914,701 (GRCm39)	M1L	probably benign	Het
Krt35	T	C	11: 99,984,620 (GRCm39)	T292A	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lamb2	T	A	9: 108,360,993 (GRCm39)	W572R	probably benign	Het
Letmd1	A	G	15: 100,367,702 (GRCm39)	T87A	probably damaging	Het
Lrp2	A	G	2: 69,278,513 (GRCm39)	Y3947H	probably damaging	Het
Mocos	T	C	18: 24,822,044 (GRCm39)	F685L	probably damaging	Het
Nup88	A	G	11: 70,860,776 (GRCm39)	M1T	probably null	Het
Or13p5	C	T	4: 118,592,421 (GRCm39)	R232C	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c29	T	C	2: 88,740,617 (GRCm39)	N40S	probably damaging	Het
Pcdhb12	T	A	18: 37,570,762 (GRCm39)	V636D	probably damaging	Het
Pclo	C	A	5: 14,565,453 (GRCm39)	A73E	probably damaging	Het
Pdlim7	A	T	13: 55,652,693 (GRCm39)		probably null	Het
Phldb1	G	A	9: 44,610,933 (GRCm39)	P67S	possibly damaging	Het
Ppp2r2b	T	C	18: 43,192,257 (GRCm39)	T17A	probably benign	Het
Ppp4r3c2	A	G	X: 88,797,926 (GRCm39)	H586R	probably benign	Het
Rab11fip4	T	C	11: 79,574,328 (GRCm39)	V241A	probably benign	Het
Slc41a1	T	C	1: 131,768,690 (GRCm39)	L216P	probably damaging	Het
Slco1a8	G	T	6: 141,949,154 (GRCm39)	A74E	possibly damaging	Het
Smg6	T	A	11: 75,050,662 (GRCm39)	D1352E	probably damaging	Het
Tbc1d9	A	T	8: 83,985,942 (GRCm39)	I816F	probably damaging	Het
Tex264	T	C	9: 106,536,498 (GRCm39)	T220A	probably benign	Het
Tmco6	G	A	18: 36,874,829 (GRCm39)	V439I	probably damaging	Het
Tmem64	A	G	4: 15,266,717 (GRCm39)	I256V	probably damaging	Het
Tnks1bp1	A	G	2: 84,882,880 (GRCm39)	S236G	possibly damaging	Het
Tsc1	A	G	2: 28,560,942 (GRCm39)	T267A	possibly damaging	Het
Txndc2	A	G	17: 65,946,548 (GRCm39)		probably null	Het
Vmn2r94	G	A	17: 18,497,695 (GRCm39)	Q26*	probably null	Het
Zan	T	C	5: 137,387,511 (GRCm39)	D4900G	unknown	Het
Zkscan3	T	C	13: 21,572,766 (GRCm39)	T122A	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
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

Predicted Primers

PCR Primer
(F):5'- TCCGTTGGCTTGACAACACTTCTG -3'
(R):5'- GTCCATGTCACATGAGGCCCAATAG -3'

Sequencing Primer
(F):5'- GGCTTGACAACACTTCTGTGTAAG -3'
(R):5'- ATCGGAACTCTTTTATCAGGTGGC -3'

Posted On

2013-09-30