Mutagenetix > Incidental Mutation

Incidental Mutation 'R3276:Nsun6'

258197

Institutional Source

Beutler Lab

Gene Symbol

Nsun6

Ensembl Gene

ENSMUSG00000026707

Gene Name

NOL1/NOP2/Sun domain family member 6

Synonyms

4933414E04Rik, 4933403D21Rik, NOPD1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R3276 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

14995131-15055069 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 15009404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141924 (fasta)

Gene Model

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

AlphaFold

Q7TS68

Predicted Effect

probably benign
Transcript: ENSMUST00000028034

SMART Domains

Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707

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

SMART Domains

Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707

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: ENSMUST00000114715

SMART Domains

Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707

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

SMART Domains

Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866 (GRCm38)	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702 (GRCm38)	E164G	probably null	Het
Als2	A	T	1: 59,170,008 (GRCm38)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553 (GRCm38)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477 (GRCm38)		probably benign	Het
Col16a1	A	G	4: 130,057,999 (GRCm38)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107 (GRCm38)	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230 (GRCm38)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850 (GRCm38)	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239 (GRCm38)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979 (GRCm38)	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071 (GRCm38)	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394 (GRCm38)	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964 (GRCm38)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522 (GRCm38)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122 (GRCm38)	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244 (GRCm38)	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998 (GRCm38)		probably benign	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639 (GRCm38)	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm38)	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946 (GRCm38)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521 (GRCm38)	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Maml3	A	T	3: 51,856,930 (GRCm38)	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066 (GRCm38)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025 (GRCm38)	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872 (GRCm38)		probably null	Het
Myo19	A	G	11: 84,892,175 (GRCm38)	I172V	probably benign	Het
Naca	T	C	10: 128,040,661 (GRCm38)		probably benign	Het
Nfatc2	T	C	2: 168,506,994 (GRCm38)	N638D	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750 (GRCm38)	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643 (GRCm38)	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232 (GRCm38)	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811 (GRCm38)	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275 (GRCm38)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943 (GRCm38)		probably null	Het
Ranbp1	T	C	16: 18,247,429 (GRCm38)		probably benign	Het
Rb1cc1	T	A	1: 6,249,366 (GRCm38)	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025 (GRCm38)	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104 (GRCm38)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519 (GRCm38)	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855 (GRCm38)	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217 (GRCm38)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in Nsun6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Nsun6	APN	2	15,048,978 (GRCm38)	missense	possibly damaging	0.69
IGL02347:Nsun6	APN	2	15,030,020 (GRCm38)	splice site	probably benign
IGL03352:Nsun6	APN	2	14,996,346 (GRCm38)	nonsense	probably null
R0371:Nsun6	UTSW	2	15,030,087 (GRCm38)	missense	probably damaging	1.00
R0639:Nsun6	UTSW	2	14,996,336 (GRCm38)	missense	probably benign
R0737:Nsun6	UTSW	2	14,996,474 (GRCm38)	missense	probably damaging	1.00
R1076:Nsun6	UTSW	2	15,009,472 (GRCm38)	missense	probably benign	0.01
R1676:Nsun6	UTSW	2	15,047,213 (GRCm38)	nonsense	probably null
R1842:Nsun6	UTSW	2	15,009,477 (GRCm38)	missense	probably damaging	0.98
R1989:Nsun6	UTSW	2	15,038,184 (GRCm38)	missense	probably benign
R2091:Nsun6	UTSW	2	15,039,731 (GRCm38)	critical splice donor site	probably null
R2972:Nsun6	UTSW	2	15,038,072 (GRCm38)	critical splice donor site	probably null
R4386:Nsun6	UTSW	2	14,996,522 (GRCm38)	missense	probably benign	0.05
R4761:Nsun6	UTSW	2	15,030,061 (GRCm38)	missense	possibly damaging	0.88
R4782:Nsun6	UTSW	2	15,036,326 (GRCm38)	missense	possibly damaging	0.88
R6701:Nsun6	UTSW	2	15,036,302 (GRCm38)	missense	probably benign	0.00
R6890:Nsun6	UTSW	2	15,048,977 (GRCm38)	missense	probably damaging	1.00
R7555:Nsun6	UTSW	2	14,996,339 (GRCm38)	missense	possibly damaging	0.73
R7587:Nsun6	UTSW	2	15,039,825 (GRCm38)	missense	probably benign
R7880:Nsun6	UTSW	2	14,996,379 (GRCm38)	missense	probably damaging	0.99
R7888:Nsun6	UTSW	2	14,996,544 (GRCm38)	missense	probably benign	0.01
R8160:Nsun6	UTSW	2	15,009,408 (GRCm38)	critical splice donor site	probably null
R8458:Nsun6	UTSW	2	15,030,052 (GRCm38)	missense	probably benign
R8784:Nsun6	UTSW	2	14,996,495 (GRCm38)	nonsense	probably null
R9320:Nsun6	UTSW	2	15,042,237 (GRCm38)	missense	probably benign	0.01
R9643:Nsun6	UTSW	2	15,042,295 (GRCm38)	missense	probably benign
R9710:Nsun6	UTSW	2	14,998,198 (GRCm38)	missense	probably benign
Z1177:Nsun6	UTSW	2	15,039,820 (GRCm38)	missense	probably benign
Z1177:Nsun6	UTSW	2	15,030,103 (GRCm38)	missense	probably damaging	1.00
Z1192:Nsun6	UTSW	2	15,038,107 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAGCATCCCAAATCCTTTTC -3'
(R):5'- GAAAGTCTTATTGCTCTGGTATGGC -3'

Sequencing Primer
(F):5'- CAAGGGCCATTCATGTTGTAGCAC -3'
(R):5'- TAAGCATTCTTAGCTTAGTCAAGCAC -3'

Posted On

2015-01-23