Incidental Mutation 'R6261:Nsun5'
ID 506692
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 044404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 135398807-135405659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135400385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 142 (T142M)
Ref Sequence ENSEMBL: ENSMUSP00000000940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000065785] [ENSMUST00000111171] [ENSMUST00000111180] [ENSMUST00000170342]
AlphaFold Q8K4F6
Predicted Effect probably damaging
Transcript: ENSMUST00000000940
AA Change: T142M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: T142M

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: ENSMUST00000065785
SMART Domains Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388

DomainStartEndE-ValueType
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

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: ENSMUST00000111180
SMART Domains Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000124453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126454
Predicted Effect silent
Transcript: ENSMUST00000202422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141867
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 noncoding transcript
Transcript: ENSMUST00000131863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127746
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G 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
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'- ACTCAAGGTTCATCGGGGTG -3'
(R):5'- GACATGTGCACCACTTAAAAGC -3'

Sequencing Primer
(F):5'- TGTGAGCCGAAATGAGGACCTG -3'
(R):5'- TCCAGAGAAAGCAGTGATTATCC -3'
Posted On 2018-03-15