Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Nsun5'

554676

Institutional Source

Beutler Lab

Gene Symbol

Nsun5

Ensembl Gene

ENSMUSG00000000916

Gene Name

NOL1/NOP2/Sun domain family, member 5

Synonyms

Wbscr20a, 9830109N13Rik, Nol1r

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4382001 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

135398807-135405659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135400355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000000940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000065785] [ENSMUST00000111171] [ENSMUST00000111180] [ENSMUST00000170342]

AlphaFold

Q8K4F6

Predicted Effect

probably benign
Transcript: ENSMUST00000000940
AA Change: Y132C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: Y132C

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	180	189	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	219	423	1.1e-32	PFAM
low complexity region	448	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065785

SMART Domains

Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	292	344	1.07e-13	SMART
SPRY	345	473	7.48e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111171

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
low complexity region	147	165	N/A	INTRINSIC
low complexity region	174	188	N/A	INTRINSIC
Pfam:POM121	292	527	1.3e-111	PFAM
low complexity region	541	551	N/A	INTRINSIC
low complexity region	552	576	N/A	INTRINSIC
low complexity region	581	602	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	658	674	N/A	INTRINSIC
low complexity region	681	699	N/A	INTRINSIC
low complexity region	715	742	N/A	INTRINSIC
low complexity region	767	776	N/A	INTRINSIC
low complexity region	782	800	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC
internal_repeat_4	827	861	8.15e-5	PROSPERO
low complexity region	874	904	N/A	INTRINSIC
internal_repeat_3	905	952	5.01e-5	PROSPERO
internal_repeat_1	917	961	1.66e-6	PROSPERO
low complexity region	963	979	N/A	INTRINSIC
low complexity region	1002	1048	N/A	INTRINSIC
low complexity region	1050	1099	N/A	INTRINSIC
internal_repeat_2	1104	1144	4.39e-6	PROSPERO
internal_repeat_1	1114	1155	1.66e-6	PROSPERO
internal_repeat_4	1125	1164	8.15e-5	PROSPERO
internal_repeat_3	1126	1175	5.01e-5	PROSPERO
internal_repeat_2	1142	1178	4.39e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000111180

SMART Domains

Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	293	345	1.07e-13	SMART
SPRY	346	474	7.48e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170342

SMART Domains

Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202422

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

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: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adam10	T	C	9: 70,673,363 (GRCm39)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Mylk	C	T	16: 34,696,012 (GRCm39)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,400,507 (GRCm39)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,887,841 (GRCm39)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,178,828 (GRCm39)	D627G	probably benign	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	Het

Other mutations in Nsun5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nsun5	APN	5	135,404,249 (GRCm39)	missense	possibly damaging	0.69
IGL01797:Nsun5	APN	5	135,404,225 (GRCm39)	missense	probably damaging	1.00
IGL01817:Nsun5	APN	5	135,398,893 (GRCm39)	missense	probably damaging	1.00
IGL03233:Nsun5	APN	5	135,404,299 (GRCm39)	missense	probably damaging	1.00
eastern	UTSW	5	135,403,912 (GRCm39)	missense	probably damaging	1.00
R6922_Nsun5_674	UTSW	5	135,399,046 (GRCm39)	missense	probably damaging	0.98
tropical	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
R1436:Nsun5	UTSW	5	135,399,067 (GRCm39)	missense	probably damaging	1.00
R1710:Nsun5	UTSW	5	135,400,170 (GRCm39)	missense	probably damaging	1.00
R1919:Nsun5	UTSW	5	135,404,452 (GRCm39)	missense	probably benign	0.00
R2067:Nsun5	UTSW	5	135,403,926 (GRCm39)	missense	probably damaging	1.00
R2937:Nsun5	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
R2938:Nsun5	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
R4277:Nsun5	UTSW	5	135,398,914 (GRCm39)	missense	probably damaging	1.00
R4278:Nsun5	UTSW	5	135,398,914 (GRCm39)	missense	probably damaging	1.00
R5732:Nsun5	UTSW	5	135,400,204 (GRCm39)	missense	probably damaging	1.00
R6261:Nsun5	UTSW	5	135,400,385 (GRCm39)	missense	probably damaging	1.00
R6525:Nsun5	UTSW	5	135,403,912 (GRCm39)	missense	probably damaging	1.00
R6922:Nsun5	UTSW	5	135,399,046 (GRCm39)	missense	probably damaging	0.98
R7110:Nsun5	UTSW	5	135,400,104 (GRCm39)	missense	probably damaging	1.00
R7977:Nsun5	UTSW	5	135,404,534 (GRCm39)	missense	probably damaging	1.00
R7987:Nsun5	UTSW	5	135,404,534 (GRCm39)	missense	probably damaging	1.00
R8560:Nsun5	UTSW	5	135,404,743 (GRCm39)	missense	probably benign
R8674:Nsun5	UTSW	5	135,400,394 (GRCm39)	missense	probably damaging	1.00
R9082:Nsun5	UTSW	5	135,402,828 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCCAGGTGCTAGTGTATG -3'
(R):5'- ACTTCCTTGAGAACCTGGACAC -3'

Sequencing Primer
(F):5'- CGATGGAAGGCTCTGCTG -3'
(R):5'- CACAGAGGAAAATGAAGGCACCC -3'

Posted On

2019-06-07