Incidental Mutation 'IGL01355:Nsun7'
ID 75495
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 # IGL01355
Quality Score
Status
Chromosome 5
Chromosomal Location 66417240-66455369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66452211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 466 (S466P)
Ref Sequence ENSEMBL: ENSMUSP00000144498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031109] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160870] [ENSMUST00000162366] [ENSMUST00000201100] [ENSMUST00000202994]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031109
AA Change: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: S500P

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: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: S500P

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 312 479 4.4e-9 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159512
SMART Domains Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207

DomainStartEndE-ValueType
WW 292 323 1.06e-7 SMART
PTB 394 538 2.87e-41 SMART
PTB 565 695 2.5e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159786
SMART Domains Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 414 560 4.29e-40 SMART
PTB 587 717 2.5e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160870
SMART Domains Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 393 537 2.87e-41 SMART
PTB 564 694 2.5e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162366
SMART Domains Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 393 537 2.87e-41 SMART
PTB 563 693 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201100
AA Change: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: S500P

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: S466P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: S466P

DomainStartEndE-ValueType
PDB:2B9E|A 205 479 5e-17 PDB
low complexity region 509 521 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162955
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,470,938 (GRCm39) V290I probably damaging Het
Ankrd12 A G 17: 66,277,335 (GRCm39) probably benign Het
Anxa4 A T 6: 86,729,187 (GRCm39) I140N probably damaging Het
Asap2 A G 12: 21,268,087 (GRCm39) probably benign Het
Cd36 C T 5: 18,018,072 (GRCm39) V214I possibly damaging Het
Col24a1 T C 3: 145,020,637 (GRCm39) L336S probably benign Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Gpr146 A T 5: 139,364,659 (GRCm39) probably benign Het
Irf1 T C 11: 53,665,187 (GRCm39) V188A probably benign Het
Limk1 G A 5: 134,686,754 (GRCm39) probably benign Het
Mcidas T C 13: 113,135,603 (GRCm39) F342S probably damaging Het
Mctp1 A G 13: 76,533,074 (GRCm39) T141A probably benign Het
Mnd1 C A 3: 84,023,784 (GRCm39) A101S probably benign Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4g16 T A 2: 111,137,438 (GRCm39) I296K probably benign Het
Or52z12 A G 7: 103,233,580 (GRCm39) E117G probably damaging Het
Pik3c2g G T 6: 139,798,583 (GRCm39) G371V probably damaging Het
Sdad1 A G 5: 92,450,538 (GRCm39) V199A probably damaging Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Tas2r108 A G 6: 40,470,685 (GRCm39) T54A possibly damaging Het
Tmem121b A G 6: 120,469,427 (GRCm39) L430P probably damaging Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Trank1 A G 9: 111,194,588 (GRCm39) T871A possibly damaging Het
Vegfa T C 17: 46,336,347 (GRCm39) M258V possibly damaging Het
Zbtb49 A G 5: 38,367,960 (GRCm39) probably null 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
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
IGL01990:Nsun7 APN 5 66,418,416 (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 2013-10-07