Incidental Mutation 'IGL01990:Nsun7'
ID 182036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsun7
Ensembl Gene ENSMUSG00000029206
Gene Name NOL1/NOP2/Sun domain family, member 7
Synonyms 4921525L17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01990
Quality Score
Status
Chromosome 5
Chromosomal Location 66417240-66455369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66418416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 49 (D49N)
Ref Sequence ENSEMBL: ENSMUSP00000144498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031109] [ENSMUST00000201100] [ENSMUST00000202994]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031109
AA Change: D49N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: D49N

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 394 477 4.2e-7 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113720
AA Change: D49N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: D49N

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 312 479 4.4e-9 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200891
Predicted Effect probably damaging
Transcript: ENSMUST00000201100
AA Change: D49N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: D49N

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 312 479 4.3e-9 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202994
AA Change: D49N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: D49N

DomainStartEndE-ValueType
PDB:2B9E|A 205 479 5e-17 PDB
low complexity region 509 521 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the NOL1/NOP2/sun domain RNA methyltransferase family. Mice with a mutation in this gene exhibit male sterility due to impaired sperm motility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,653,068 (GRCm39) N376S probably benign Het
Adgrv1 T C 13: 81,705,115 (GRCm39) D1565G probably damaging Het
Atf5 T G 7: 44,462,473 (GRCm39) D217A probably damaging Het
Azgp1 T C 5: 137,987,997 (GRCm39) W260R probably damaging Het
Cnr2 C T 4: 135,644,116 (GRCm39) R65C probably damaging Het
Col14a1 A G 15: 55,226,859 (GRCm39) Y203C unknown Het
Colec11 A G 12: 28,644,985 (GRCm39) Y170H probably benign Het
Exosc10 A G 4: 148,650,867 (GRCm39) Q471R possibly damaging Het
Gal3st1 G T 11: 3,948,741 (GRCm39) W316L probably damaging Het
Igfbp3 C A 11: 7,158,504 (GRCm39) R253L probably damaging Het
Kcnb2 A T 1: 15,383,178 (GRCm39) D168V probably benign Het
Khnyn T G 14: 56,125,045 (GRCm39) I433S possibly damaging Het
Naaa T A 5: 92,415,922 (GRCm39) T193S possibly damaging Het
Pappa T C 4: 65,074,924 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,633,107 (GRCm39) probably benign Het
Pkd1l3 C T 8: 110,387,438 (GRCm39) T1794I probably damaging Het
Prex2 A C 1: 11,193,457 (GRCm39) probably benign Het
Slc2a7 T G 4: 150,239,141 (GRCm39) I122S possibly damaging Het
Slc31a2 A G 4: 62,214,207 (GRCm39) K53E probably benign Het
Slc35f4 C T 14: 49,541,626 (GRCm39) probably null Het
Slc38a7 C T 8: 96,571,590 (GRCm39) W213* probably null Het
Slc5a4b T C 10: 75,896,188 (GRCm39) E589G probably benign Het
Syne2 A G 12: 76,101,707 (GRCm39) N5407S probably damaging Het
Tgm2 A T 2: 157,966,051 (GRCm39) D534E probably benign Het
Ugt1a7c A G 1: 88,023,324 (GRCm39) Y161C probably damaging Het
Vmn2r114 A G 17: 23,529,355 (GRCm39) M249T probably benign Het
Xkr9 A G 1: 13,771,203 (GRCm39) I240V probably benign Het
Zfat A G 15: 68,096,666 (GRCm39) L49P probably damaging Het
Zfhx2 G T 14: 55,311,047 (GRCm39) P549H probably damaging Het
Zfp551 C T 7: 12,156,343 (GRCm39) V25M possibly damaging Het
Other mutations in Nsun7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Nsun7 APN 5 66,446,846 (GRCm39) missense probably benign 0.00
IGL01013:Nsun7 APN 5 66,440,944 (GRCm39) missense possibly damaging 0.87
IGL01355:Nsun7 APN 5 66,452,211 (GRCm39) missense probably damaging 1.00
IGL01768:Nsun7 APN 5 66,436,043 (GRCm39) missense probably benign 0.11
IGL01914:Nsun7 APN 5 66,433,977 (GRCm39) missense probably damaging 1.00
IGL02477:Nsun7 APN 5 66,433,992 (GRCm39) missense probably damaging 0.99
R0071:Nsun7 UTSW 5 66,421,388 (GRCm39) missense probably benign 0.00
R0071:Nsun7 UTSW 5 66,421,388 (GRCm39) missense probably benign 0.00
R0079:Nsun7 UTSW 5 66,452,856 (GRCm39) missense probably benign 0.00
R0255:Nsun7 UTSW 5 66,446,751 (GRCm39) splice site probably benign
R0503:Nsun7 UTSW 5 66,440,924 (GRCm39) splice site probably benign
R0540:Nsun7 UTSW 5 66,440,977 (GRCm39) missense probably damaging 0.98
R1416:Nsun7 UTSW 5 66,418,423 (GRCm39) missense probably damaging 0.98
R1471:Nsun7 UTSW 5 66,441,572 (GRCm39) missense probably benign 0.00
R1942:Nsun7 UTSW 5 66,441,588 (GRCm39) missense probably benign 0.00
R1981:Nsun7 UTSW 5 66,418,557 (GRCm39) missense probably damaging 0.99
R2037:Nsun7 UTSW 5 66,418,429 (GRCm39) missense probably benign 0.06
R2098:Nsun7 UTSW 5 66,441,055 (GRCm39) missense probably damaging 0.98
R2226:Nsun7 UTSW 5 66,418,562 (GRCm39) nonsense probably null
R2996:Nsun7 UTSW 5 66,452,897 (GRCm39) missense probably benign 0.01
R3882:Nsun7 UTSW 5 66,435,983 (GRCm39) missense probably damaging 0.99
R4678:Nsun7 UTSW 5 66,418,407 (GRCm39) missense probably benign 0.00
R4681:Nsun7 UTSW 5 66,418,542 (GRCm39) missense probably benign 0.00
R4997:Nsun7 UTSW 5 66,453,182 (GRCm39) missense probably benign 0.02
R6108:Nsun7 UTSW 5 66,453,142 (GRCm39) missense probably damaging 0.99
R6465:Nsun7 UTSW 5 66,452,929 (GRCm39) missense probably benign 0.35
R6500:Nsun7 UTSW 5 66,452,827 (GRCm39) missense probably benign 0.11
R6746:Nsun7 UTSW 5 66,441,080 (GRCm39) critical splice donor site probably null
R6925:Nsun7 UTSW 5 66,434,415 (GRCm39) missense probably damaging 1.00
R7032:Nsun7 UTSW 5 66,421,378 (GRCm39) missense probably benign 0.02
R7084:Nsun7 UTSW 5 66,452,764 (GRCm39) missense probably damaging 1.00
R7098:Nsun7 UTSW 5 66,418,326 (GRCm39) missense probably damaging 0.98
R7216:Nsun7 UTSW 5 66,436,000 (GRCm39) missense probably damaging 1.00
R7276:Nsun7 UTSW 5 66,434,484 (GRCm39) missense probably benign 0.03
R7803:Nsun7 UTSW 5 66,433,884 (GRCm39) nonsense probably null
R8877:Nsun7 UTSW 5 66,453,294 (GRCm39) nonsense probably null
R9167:Nsun7 UTSW 5 66,435,994 (GRCm39) missense possibly damaging 0.95
R9222:Nsun7 UTSW 5 66,418,366 (GRCm39) missense probably benign
Posted On 2014-05-07