Incidental Mutation 'R7977:Nsun5'
ID 650959
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 046020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7977 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 135398807-135405659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135404534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 424 (R424H)
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: R424H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: R424H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000170342
SMART Domains Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

DomainStartEndE-ValueType
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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik G T 2: 32,464,317 (GRCm39) Q161K unknown Het
Acsl5 T C 19: 55,266,405 (GRCm39) probably null Het
Adgre1 T A 17: 57,754,987 (GRCm39) I695N possibly damaging Het
Ank2 T C 3: 126,739,356 (GRCm39) D2176G unknown Het
Atp6v0a2 G A 5: 124,797,050 (GRCm39) G810D probably damaging Het
Bod1l A C 5: 41,952,413 (GRCm39) N2868K probably damaging Het
Brd7 T C 8: 89,060,769 (GRCm39) T526A probably benign Het
C9 T A 15: 6,496,943 (GRCm39) Y213* probably null Het
Card6 T A 15: 5,130,007 (GRCm39) N463I probably damaging Het
Ccdc81 T C 7: 89,525,319 (GRCm39) Y485C probably damaging Het
Celsr1 A G 15: 85,917,194 (GRCm39) F260L probably damaging Het
Dnah8 A G 17: 30,963,498 (GRCm39) D2304G probably damaging Het
Dnase1 A G 16: 3,855,834 (GRCm39) D55G probably damaging Het
Ecsit C A 9: 21,984,780 (GRCm39) R296L probably damaging Het
Entpd8 A G 2: 24,974,778 (GRCm39) D403G probably damaging Het
Epha2 C A 4: 141,035,791 (GRCm39) Q76K probably damaging Het
Exoc1 T A 5: 76,691,432 (GRCm39) V252E probably damaging Het
Fmnl3 T A 15: 99,225,979 (GRCm39) H225L possibly damaging Het
Gm4565 A C 7: 22,282,812 (GRCm39) M2R probably benign Het
Gpr146 G T 5: 139,378,440 (GRCm39) A81S possibly damaging Het
Heg1 C A 16: 33,541,100 (GRCm39) S419* probably null Het
Hps5 A C 7: 46,418,475 (GRCm39) I865S probably benign Het
Hsp90ab1 A C 17: 45,882,532 (GRCm39) I54S probably damaging Het
Hyal4 T G 6: 24,763,865 (GRCm39) M342R probably damaging Het
Itgal A G 7: 126,927,470 (GRCm39) T987A possibly damaging Het
Kat6b A G 14: 21,719,931 (GRCm39) T1428A probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lmtk2 A G 5: 144,111,959 (GRCm39) D893G probably benign Het
Myo3b A G 2: 70,161,277 (GRCm39) T1174A probably benign Het
Naf1 CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA 8: 67,313,146 (GRCm39) probably benign Het
Oacyl A G 18: 65,831,462 (GRCm39) E33G probably benign Het
Or6c66 T C 10: 129,461,838 (GRCm39) I31V probably benign Het
Or7d10 T C 9: 19,831,610 (GRCm39) F35S possibly damaging Het
Palm C T 10: 79,629,539 (GRCm39) probably benign Het
Papln A G 12: 83,822,156 (GRCm39) E337G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Setd1b A G 5: 123,285,743 (GRCm39) D263G unknown Het
Slc10a7 T A 8: 79,423,843 (GRCm39) F202I probably benign Het
Smpd3 T C 8: 106,986,526 (GRCm39) I455V probably benign Het
Snip1 G T 4: 124,960,732 (GRCm39) G63W probably damaging Het
Sorl1 T A 9: 41,888,857 (GRCm39) Y1981F probably damaging Het
Tagln2 A G 1: 172,332,820 (GRCm39) T36A probably benign Het
Tnxb T C 17: 34,929,194 (GRCm39) S2746P possibly damaging Het
Tob2 G A 15: 81,735,681 (GRCm39) P96L probably damaging Het
Triobp T A 15: 78,885,744 (GRCm39) Y1816N probably damaging Het
Trpc3 A G 3: 36,698,318 (GRCm39) I647T probably benign Het
Ttn A G 2: 76,721,905 (GRCm39) S6600P unknown Het
Vmn1r200 A T 13: 22,580,025 (GRCm39) Y276F possibly damaging Het
Vmn1r230 T C 17: 21,067,159 (GRCm39) I116T probably benign Het
Vmn1r26 A T 6: 57,985,264 (GRCm39) Y308* probably null Het
Vmn2r16 C T 5: 109,488,015 (GRCm39) T296I probably damaging Het
Wdfy2 A G 14: 63,189,380 (GRCm39) D283G possibly damaging Het
Other mutations in Nsun5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CACAAGTTGCTTCTCACCAGGG -3'
(R):5'- TCTGGATCCATTGCATCGGTC -3'

Sequencing Primer
(F):5'- TGCTTCTCACCAGGGTCTGAG -3'
(R):5'- ATCCATTGCATCGGTCTGTGG -3'
Posted On 2020-09-15