Incidental Mutation 'IGL01123:Nsun6'
ID 50572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsun6
Ensembl Gene ENSMUSG00000026707
Gene Name NOL1/NOP2/Sun domain family member 6
Synonyms 4933403D21Rik, NOPD1, 4933414E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01123
Quality Score
Status
Chromosome 2
Chromosomal Location 14999942-15059880 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15053789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 7 (I7V)
Ref Sequence ENSEMBL: ENSMUSP00000110361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000028034] [ENSMUST00000076435] [ENSMUST00000114713] [ENSMUST00000114715] [ENSMUST00000195749]
AlphaFold Q7TS68
Predicted Effect probably benign
Transcript: ENSMUST00000017562
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028034
AA Change: I7V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: I7V

DomainStartEndE-ValueType
PUA 112 203 1.96e-4 SMART
Pfam:FtsJ 216 397 1.4e-8 PFAM
Pfam:Methyltransf_31 232 423 1.3e-9 PFAM
Pfam:Methyltransf_18 234 373 1.4e-8 PFAM
Pfam:Methyltransf_26 235 374 2.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076435
AA Change: I7V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: I7V

DomainStartEndE-ValueType
PUA 112 203 1.96e-4 SMART
Pfam:FtsJ 224 392 4.7e-9 PFAM
Pfam:Nol1_Nop2_Fmu 227 464 4.7e-48 PFAM
Pfam:Methyltransf_31 232 423 8.8e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114713
AA Change: I7V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000114715
SMART Domains Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707

DomainStartEndE-ValueType
PUA 61 152 1.96e-4 SMART
Pfam:FtsJ 165 346 4.5e-9 PFAM
Pfam:Methyltransf_31 181 372 2.3e-10 PFAM
Pfam:Methyltransf_18 183 322 2.8e-9 PFAM
Pfam:Methyltransf_26 184 323 5.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191911
Predicted Effect probably benign
Transcript: ENSMUST00000195749
AA Change: I7V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: I7V

DomainStartEndE-ValueType
PUA 112 203 1.96e-4 SMART
Pfam:FtsJ 216 397 1.4e-8 PFAM
Pfam:Methyltransf_31 232 423 1.3e-9 PFAM
Pfam:Methyltransf_18 234 373 1.4e-8 PFAM
Pfam:Methyltransf_26 235 374 2.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192769
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Nsun6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Nsun6 APN 2 15,034,831 (GRCm39) splice site probably benign
IGL03352:Nsun6 APN 2 15,001,157 (GRCm39) nonsense probably null
R0371:Nsun6 UTSW 2 15,034,898 (GRCm39) missense probably damaging 1.00
R0639:Nsun6 UTSW 2 15,001,147 (GRCm39) missense probably benign
R0737:Nsun6 UTSW 2 15,001,285 (GRCm39) missense probably damaging 1.00
R1076:Nsun6 UTSW 2 15,014,283 (GRCm39) missense probably benign 0.01
R1676:Nsun6 UTSW 2 15,052,024 (GRCm39) nonsense probably null
R1842:Nsun6 UTSW 2 15,014,288 (GRCm39) missense probably damaging 0.98
R1989:Nsun6 UTSW 2 15,042,995 (GRCm39) missense probably benign
R2091:Nsun6 UTSW 2 15,044,542 (GRCm39) critical splice donor site probably null
R2972:Nsun6 UTSW 2 15,042,883 (GRCm39) critical splice donor site probably null
R3276:Nsun6 UTSW 2 15,014,215 (GRCm39) splice site probably benign
R4386:Nsun6 UTSW 2 15,001,333 (GRCm39) missense probably benign 0.05
R4761:Nsun6 UTSW 2 15,034,872 (GRCm39) missense possibly damaging 0.88
R4782:Nsun6 UTSW 2 15,041,137 (GRCm39) missense possibly damaging 0.88
R6701:Nsun6 UTSW 2 15,041,113 (GRCm39) missense probably benign 0.00
R6890:Nsun6 UTSW 2 15,053,788 (GRCm39) missense probably damaging 1.00
R7555:Nsun6 UTSW 2 15,001,150 (GRCm39) missense possibly damaging 0.73
R7587:Nsun6 UTSW 2 15,044,636 (GRCm39) missense probably benign
R7880:Nsun6 UTSW 2 15,001,190 (GRCm39) missense probably damaging 0.99
R7888:Nsun6 UTSW 2 15,001,355 (GRCm39) missense probably benign 0.01
R8160:Nsun6 UTSW 2 15,014,219 (GRCm39) critical splice donor site probably null
R8458:Nsun6 UTSW 2 15,034,863 (GRCm39) missense probably benign
R8784:Nsun6 UTSW 2 15,001,306 (GRCm39) nonsense probably null
R9320:Nsun6 UTSW 2 15,047,048 (GRCm39) missense probably benign 0.01
R9643:Nsun6 UTSW 2 15,047,106 (GRCm39) missense probably benign
R9710:Nsun6 UTSW 2 15,003,009 (GRCm39) missense probably benign
Z1177:Nsun6 UTSW 2 15,044,631 (GRCm39) missense probably benign
Z1177:Nsun6 UTSW 2 15,034,914 (GRCm39) missense probably damaging 1.00
Z1192:Nsun6 UTSW 2 15,042,918 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21