Incidental Mutation 'IGL01797:Nsun5'
ID 155391
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01797
Quality Score
Status
Chromosome 5
Chromosomal Location 135398807-135405659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135404225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 344 (H344R)
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: H344R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: H344R

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 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

DomainStartEndE-ValueType
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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,113,760 (GRCm39) V877A probably benign Het
Clcn2 T C 16: 20,531,511 (GRCm39) I178V probably damaging Het
Cnbp A G 6: 87,822,542 (GRCm39) probably benign Het
Coq8a A T 1: 179,997,284 (GRCm39) probably null Het
Dctn2 A G 10: 127,113,182 (GRCm39) D244G possibly damaging Het
Dync1h1 T A 12: 110,618,630 (GRCm39) probably null Het
Efcab15 T C 11: 103,089,794 (GRCm39) Y381C probably damaging Het
Faiml T C 9: 99,116,442 (GRCm39) K83E probably damaging Het
Fdx1 A T 9: 51,854,925 (GRCm39) C159* probably null Het
Fgd3 A T 13: 49,443,065 (GRCm39) V169E probably damaging Het
Ice1 G T 13: 70,772,065 (GRCm39) T51K probably damaging Het
Iqca1 A C 1: 90,072,541 (GRCm39) probably null Het
Jup C A 11: 100,272,498 (GRCm39) probably benign Het
Krt84 A G 15: 101,436,915 (GRCm39) V373A possibly damaging Het
Ndst4 T A 3: 125,476,802 (GRCm39) M9K probably damaging Het
Nomo1 T C 7: 45,706,086 (GRCm39) V480A probably damaging Het
Or13a21 A G 7: 139,998,931 (GRCm39) Y252H probably damaging Het
Or1e1f A T 11: 73,855,644 (GRCm39) D70V probably damaging Het
Pjvk T C 2: 76,487,883 (GRCm39) probably benign Het
Prkaa1 G A 15: 5,198,187 (GRCm39) D159N probably damaging Het
Sap130 T A 18: 31,831,721 (GRCm39) I736N probably damaging Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tpp1 T C 7: 105,398,459 (GRCm39) I286V probably benign Het
Ttll5 T A 12: 86,003,371 (GRCm39) I1069K possibly damaging Het
Ttn T G 2: 76,540,257 (GRCm39) E34243A possibly damaging Het
Uqcr10 A C 11: 4,654,179 (GRCm39) I43S possibly damaging Het
Ush2a T A 1: 187,995,706 (GRCm39) M159K probably damaging Het
Vmn2r121 G A X: 123,041,048 (GRCm39) probably benign Het
Vmn2r30 T A 7: 7,337,195 (GRCm39) D147V probably benign Het
Xntrpc T C 7: 101,739,753 (GRCm39) I559T possibly damaging Het
Zfp268 T A 4: 145,347,241 (GRCm39) N48K probably damaging Het
Other mutations in Nsun5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Nsun5 APN 5 135,404,249 (GRCm39) missense possibly damaging 0.69
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
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
Posted On 2014-02-04