Incidental Mutation 'R8238:Nsun3'
ID 637477
Institutional Source Beutler Lab
Gene Symbol Nsun3
Ensembl Gene ENSMUSG00000050312
Gene Name NOL1/NOP2/Sun domain family member 3
Synonyms 6720484A09Rik
MMRRC Submission 067670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R8238 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 62552807-62607181 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62591076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 189 (V189A)
Ref Sequence ENSEMBL: ENSMUSP00000059720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063089] [ENSMUST00000143314] [ENSMUST00000152553]
AlphaFold Q8CCT7
Predicted Effect probably damaging
Transcript: ENSMUST00000063089
AA Change: V189A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059720
Gene: ENSMUSG00000050312
AA Change: V189A

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 124 332 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143314
SMART Domains Protein: ENSMUSP00000114448
Gene: ENSMUSG00000050312

DomainStartEndE-ValueType
SCOP:d1ytfd1 9 35 4e-3 SMART
low complexity region 38 52 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152553
AA Change: V119A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123643
Gene: ENSMUSG00000050312
AA Change: V119A

DomainStartEndE-ValueType
SCOP:d1ytfd1 9 35 8e-3 SMART
low complexity region 38 52 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A G 8: 44,103,993 (GRCm39) Y551H probably damaging Het
Ak1 T A 2: 32,523,681 (GRCm39) V198D probably damaging Het
Alx1 C T 10: 102,858,076 (GRCm39) D208N possibly damaging Het
Aoc1l3 A G 6: 48,966,975 (GRCm39) E641G probably damaging Het
Atp5f1b T A 10: 127,921,019 (GRCm39) I182N possibly damaging Het
Cabp5 T A 7: 13,139,377 (GRCm39) M134K probably damaging Het
Camsap2 A T 1: 136,221,764 (GRCm39) I227N probably benign Het
Cfap44 G A 16: 44,235,668 (GRCm39) probably null Het
Dpyd G A 3: 118,988,842 (GRCm39) probably null Het
Etl4 C T 2: 20,811,342 (GRCm39) R1510* probably null Het
Fgr C T 4: 132,724,832 (GRCm39) A311V probably damaging Het
Glipr1 C T 10: 111,829,345 (GRCm39) probably null Het
Gm10799 A G 2: 103,898,496 (GRCm39) F70L probably benign Het
Gm14412 A T 2: 177,007,111 (GRCm39) H261Q unknown Het
Hey2 T A 10: 30,716,659 (GRCm39) M35L probably benign Het
Hspb7 A G 4: 141,149,857 (GRCm39) Y81C probably damaging Het
Ipo5 A T 14: 121,172,652 (GRCm39) K570M probably damaging Het
Iqsec1 A T 6: 90,666,912 (GRCm39) H404Q probably benign Het
Kif5b T A 18: 6,227,619 (GRCm39) Q86L probably damaging Het
Lrrtm4 T A 6: 79,999,668 (GRCm39) I360N probably damaging Het
Mup6 T A 4: 60,003,634 (GRCm39) V29E probably damaging Het
Ncstn G T 1: 171,900,043 (GRCm39) A277E probably damaging Het
Oaf C T 9: 43,150,642 (GRCm39) D77N probably damaging Het
Or13a27 A C 7: 139,925,803 (GRCm39) L33W probably damaging Het
Or55b10 T C 7: 102,143,827 (GRCm39) T52A possibly damaging Het
Pard6a A G 8: 106,429,366 (GRCm39) D138G probably damaging Het
Ppp4r4 A C 12: 103,557,066 (GRCm39) H434P probably benign Het
Sec23b T C 2: 144,406,568 (GRCm39) I121T probably benign Het
Slc36a3 C T 11: 55,022,433 (GRCm39) V254I probably benign Het
Slc7a14 C A 3: 31,281,300 (GRCm39) V337L probably benign Het
Tdh C T 14: 63,733,173 (GRCm39) G206E probably damaging Het
Vmn1r231 T C 17: 21,110,640 (GRCm39) T92A probably benign Het
Vmn2r36 T G 7: 7,892,015 (GRCm39) H431P probably benign Het
Vmn2r92 G T 17: 18,405,278 (GRCm39) M807I probably benign Het
Vps11 T C 9: 44,264,057 (GRCm39) T759A probably benign Het
Xdh G T 17: 74,193,412 (GRCm39) Q1295K probably benign Het
Other mutations in Nsun3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03210:Nsun3 APN 16 62,591,110 (GRCm39) missense probably damaging 1.00
PIT4382001:Nsun3 UTSW 16 62,606,228 (GRCm39) missense probably damaging 0.99
R0277:Nsun3 UTSW 16 62,597,007 (GRCm39) intron probably benign
R1481:Nsun3 UTSW 16 62,555,732 (GRCm39) missense probably damaging 1.00
R1842:Nsun3 UTSW 16 62,596,755 (GRCm39) missense probably damaging 1.00
R1883:Nsun3 UTSW 16 62,555,656 (GRCm39) missense probably damaging 0.96
R4732:Nsun3 UTSW 16 62,555,482 (GRCm39) missense possibly damaging 0.90
R4733:Nsun3 UTSW 16 62,555,482 (GRCm39) missense possibly damaging 0.90
R5528:Nsun3 UTSW 16 62,555,689 (GRCm39) missense possibly damaging 0.51
R5996:Nsun3 UTSW 16 62,590,049 (GRCm39) missense probably benign 0.29
R7058:Nsun3 UTSW 16 62,596,663 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ATCAAAGTCTCCCAGAGCCCTG -3'
(R):5'- AACATTTACCTCTGAGCTGTATCTC -3'

Sequencing Primer
(F):5'- CCTGAGAAAGTGCACCATCTG -3'
(R):5'- CTCTGAGCTGTATCTCTGAAACATTG -3'
Posted On 2020-07-13