Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4382001:Nsun3'

554720

Institutional Source

Beutler Lab

Gene Symbol

Nsun3

Ensembl Gene

ENSMUSG00000050312

Gene Name

NOL1/NOP2/Sun domain family member 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62732444-62786818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62785865 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 15 (K15N)

Ref Sequence

ENSEMBL: ENSMUSP00000059720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063089] [ENSMUST00000143314] [ENSMUST00000152553]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063089
AA Change: K15N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059720
Gene: ENSMUSG00000050312
AA Change: K15N

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	124	332	1.5e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143314
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114448
Gene: ENSMUSG00000050312
AA Change: K15N

Domain	Start	End	E-Value	Type
SCOP:d1ytfd1	9	35	4e-3	SMART
low complexity region	38	52	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152553
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123643
Gene: ENSMUSG00000050312
AA Change: K15N

Domain	Start	End	E-Value	Type
SCOP:d1ytfd1	9	35	8e-3	SMART
low complexity region	38	52	N/A	INTRINSIC

Coding Region Coverage

1x: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	probably benign	Het

Other mutations in Nsun3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03210:Nsun3	APN	16	62770747	missense	probably damaging	1.00
R0277:Nsun3	UTSW	16	62776644	intron	probably benign
R1481:Nsun3	UTSW	16	62735369	missense	probably damaging	1.00
R1842:Nsun3	UTSW	16	62776392	missense	probably damaging	1.00
R1883:Nsun3	UTSW	16	62735293	missense	probably damaging	0.96
R4732:Nsun3	UTSW	16	62735119	missense	possibly damaging	0.90
R4733:Nsun3	UTSW	16	62735119	missense	possibly damaging	0.90
R5528:Nsun3	UTSW	16	62735326	missense	possibly damaging	0.51
R5996:Nsun3	UTSW	16	62769686	missense	probably benign	0.29
R7058:Nsun3	UTSW	16	62776300	missense	possibly damaging	0.69
R8238:Nsun3	UTSW	16	62770713	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTACATGCCAGGTGATTCC -3'
(R):5'- GTTGATCCAACGGCAGGAAC -3'

Sequencing Primer
(F):5'- TCCTTCACACATAAAATGTACAGTC -3'
(R):5'- GACAGCACTAATTGTTCCCGAGTG -3'

Posted On

2019-06-07