Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Nsun5'

226755

Institutional Source

Beutler Lab

Gene Symbol

Nsun5

Ensembl Gene

ENSMUSG00000000916

Gene Name

NOL1/NOP2/Sun domain family, member 5

Synonyms

9830109N13Rik, Nol1r, Wbscr20a

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135369953-135376805 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 135375072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 301 (Y301D)

Ref Sequence

ENSEMBL: ENSMUSP00000000940 (fasta)

Gene Model

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

AlphaFold

Q8K4F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000000940
AA Change: Y301D

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

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: Y301D

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202792

Meta Mutation Damage Score

0.6331

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322 (GRCm38)		probably benign	Het
Abca2	A	T	2: 25,437,505 (GRCm38)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254 (GRCm38)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755 (GRCm38)	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002 (GRCm38)	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545 (GRCm38)		probably benign	Het
Amy2a1	T	C	3: 113,530,568 (GRCm38)	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496 (GRCm38)	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086 (GRCm38)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550 (GRCm38)		probably null	Het
Clptm1l	C	T	13: 73,607,723 (GRCm38)	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782 (GRCm38)	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699 (GRCm38)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078 (GRCm38)	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053 (GRCm38)	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090 (GRCm38)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466 (GRCm38)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471 (GRCm38)	W577*	probably null	Het
Fgb	C	A	3: 83,049,689 (GRCm38)	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517 (GRCm38)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754 (GRCm38)	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726 (GRCm38)	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894 (GRCm38)	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159 (GRCm38)	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751 (GRCm38)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366 (GRCm38)	T89S	probably benign	Het
Htt	C	T	5: 34,825,982 (GRCm38)	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076 (GRCm38)	M768I	probably benign	Het
Krt4	C	A	15: 101,924,664 (GRCm38)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,349,023 (GRCm38)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm38)		probably benign	Het
Myh1	G	A	11: 67,214,620 (GRCm38)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,705,478 (GRCm38)	N43D	probably benign	Het
Napa	A	T	7: 16,115,278 (GRCm38)		probably benign	Het
Ndufa12	A	G	10: 94,220,707 (GRCm38)	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263 (GRCm38)	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162 (GRCm38)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607 (GRCm38)	T612M	probably damaging	Het
Oas1g	T	C	5: 120,885,883 (GRCm38)	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437 (GRCm38)	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474 (GRCm38)	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570 (GRCm38)	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914 (GRCm38)	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909 (GRCm38)	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280 (GRCm38)	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415 (GRCm38)	N957D	probably benign	Het
Parn	G	A	16: 13,603,069 (GRCm38)	S473L	probably damaging	Het
Phc2	T	C	4: 128,747,136 (GRCm38)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611 (GRCm38)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152 (GRCm38)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887 (GRCm38)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389 (GRCm38)		probably benign	Het
Rapgef3	C	A	15: 97,766,961 (GRCm38)	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708 (GRCm38)	S491R	probably benign	Het
Rnf141	A	G	7: 110,821,365 (GRCm38)		probably benign	Het
Ryr3	C	T	2: 112,946,957 (GRCm38)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545 (GRCm38)	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786 (GRCm38)	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869 (GRCm38)	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533 (GRCm38)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751 (GRCm38)	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563 (GRCm38)	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342 (GRCm38)		probably null	Het
Tagap1	A	G	17: 6,956,860 (GRCm38)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142 (GRCm38)	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396 (GRCm38)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551 (GRCm38)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309 (GRCm38)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727 (GRCm38)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382 (GRCm38)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373 (GRCm38)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489 (GRCm38)	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145 (GRCm38)		probably null	Het
Ugt2b35	A	G	5: 87,001,553 (GRCm38)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689 (GRCm38)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337 (GRCm38)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553 (GRCm38)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,853,510 (GRCm38)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350 (GRCm38)	C1589R	probably damaging	Het

Other mutations in Nsun5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nsun5	APN	5	135,375,395 (GRCm38)	missense	possibly damaging	0.69
IGL01797:Nsun5	APN	5	135,375,371 (GRCm38)	missense	probably damaging	1.00
IGL01817:Nsun5	APN	5	135,370,039 (GRCm38)	missense	probably damaging	1.00
IGL03233:Nsun5	APN	5	135,375,445 (GRCm38)	missense	probably damaging	1.00
eastern	UTSW	5	135,375,058 (GRCm38)	missense	probably damaging	1.00
R6922_Nsun5_674	UTSW	5	135,370,192 (GRCm38)	missense	probably damaging	0.98
tropical	UTSW	5	135,375,463 (GRCm38)	nonsense	probably null
PIT4382001:Nsun5	UTSW	5	135,371,501 (GRCm38)	missense	probably benign
R1436:Nsun5	UTSW	5	135,370,213 (GRCm38)	missense	probably damaging	1.00
R1710:Nsun5	UTSW	5	135,371,316 (GRCm38)	missense	probably damaging	1.00
R1919:Nsun5	UTSW	5	135,375,598 (GRCm38)	missense	probably benign	0.00
R2937:Nsun5	UTSW	5	135,375,463 (GRCm38)	nonsense	probably null
R2938:Nsun5	UTSW	5	135,375,463 (GRCm38)	nonsense	probably null
R4277:Nsun5	UTSW	5	135,370,060 (GRCm38)	missense	probably damaging	1.00
R4278:Nsun5	UTSW	5	135,370,060 (GRCm38)	missense	probably damaging	1.00
R5732:Nsun5	UTSW	5	135,371,350 (GRCm38)	missense	probably damaging	1.00
R6261:Nsun5	UTSW	5	135,371,531 (GRCm38)	missense	probably damaging	1.00
R6525:Nsun5	UTSW	5	135,375,058 (GRCm38)	missense	probably damaging	1.00
R6922:Nsun5	UTSW	5	135,370,192 (GRCm38)	missense	probably damaging	0.98
R7110:Nsun5	UTSW	5	135,371,250 (GRCm38)	missense	probably damaging	1.00
R7977:Nsun5	UTSW	5	135,375,680 (GRCm38)	missense	probably damaging	1.00
R7987:Nsun5	UTSW	5	135,375,680 (GRCm38)	missense	probably damaging	1.00
R8560:Nsun5	UTSW	5	135,375,889 (GRCm38)	missense	probably benign
R8674:Nsun5	UTSW	5	135,371,540 (GRCm38)	missense	probably damaging	1.00
R9082:Nsun5	UTSW	5	135,373,974 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAATTCTCAGTTCACTCTGCC -3'
(R):5'- CTTGGCAAAGGGAACACGTG -3'

Sequencing Primer
(F):5'- CTCTGCTCTTCTCCCTAGGAAGATC -3'
(R):5'- AAGCGCTCCTTGCTAGGTG -3'

Posted On

2014-09-17