Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Nsun5'

256103

Institutional Source

Beutler Lab

Gene Symbol

Nsun5

Ensembl Gene

ENSMUSG00000000916

Gene Name

NOL1/NOP2/Sun domain family, member 5

Synonyms

Wbscr20a, 9830109N13Rik, Nol1r

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135398807-135405659 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 135404317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 375 (Q375*)

Ref Sequence

ENSEMBL: ENSMUSP00000000940 (fasta)

Gene Model

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

AlphaFold

Q8K4F6

Predicted Effect

probably null
Transcript: ENSMUST00000000940
AA Change: Q375*

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: Q375*

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: 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

noncoding transcript
Transcript: ENSMUST00000124453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202792

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	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
PIT4382001:Nsun5	UTSW	5	135,400,355 (GRCm39)	missense	probably benign
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
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'- TTTTCCACAGGCATGCTGAG -3'
(R):5'- TGAAGAAGCCACCAGTGAGC -3'

Sequencing Primer
(F):5'- AGGCATGCTGAGCCGGC -3'
(R):5'- ACCAGTGAGCGTGGTCTCAG -3'

Posted On

2014-12-29