Incidental Mutation 'R9222:Nsun7'
ID 699525
Institutional Source Beutler Lab
Gene Symbol Nsun7
Ensembl Gene ENSMUSG00000029206
Gene Name NOL1/NOP2/Sun domain family, member 7
Synonyms 4921525L17Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9222 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 66417240-66455369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66418366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
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 benign
Transcript: ENSMUST00000031109
AA Change: V32A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: V32A

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 394 477 4.2e-7 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201100
AA Change: V32A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: V32A

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 312 479 4.3e-9 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202994
AA Change: V32A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: V32A

DomainStartEndE-ValueType
PDB:2B9E|A 205 479 5e-17 PDB
low complexity region 509 521 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik C A 5: 138,560,562 (GRCm39) V278F unknown Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Actr5 T A 2: 158,473,423 (GRCm39) N272K probably damaging Het
Afg3l2 T C 18: 67,567,257 (GRCm39) T198A probably benign Het
Aloxe3 A G 11: 69,023,903 (GRCm39) Y278C probably damaging Het
Apobec3 A G 15: 79,783,270 (GRCm39) I226V Het
Arap2 T A 5: 62,828,421 (GRCm39) T917S possibly damaging Het
Arhgap40 T C 2: 158,388,692 (GRCm39) L545P probably damaging Het
Atp13a5 A T 16: 29,133,472 (GRCm39) L438H probably damaging Het
Ccdc191 T A 16: 43,725,831 (GRCm39) Y105N probably damaging Het
Ccdc7a A T 8: 129,525,610 (GRCm39) F1406L unknown Het
Celsr1 A G 15: 85,815,471 (GRCm39) V1848A possibly damaging Het
Chn1 T A 2: 73,443,499 (GRCm39) N417I probably damaging Het
Cmya5 T C 13: 93,230,579 (GRCm39) K1503R probably benign Het
Cryz T C 3: 154,317,203 (GRCm39) F141L probably benign Het
Dmac2l T C 12: 69,788,554 (GRCm39) V151A probably damaging Het
Dpep2 T A 8: 106,723,016 (GRCm39) H13L Het
Eif2b5 C T 16: 20,321,382 (GRCm39) R312* probably null Het
Evc A T 5: 37,477,650 (GRCm39) M343K probably benign Het
Fbxw17 T A 13: 50,577,367 (GRCm39) D86E probably damaging Het
Fbxw9 T A 8: 85,788,856 (GRCm39) L202Q probably damaging Het
Fkbp9 G T 6: 56,852,677 (GRCm39) V466F probably damaging Het
Fras1 G A 5: 96,805,087 (GRCm39) R1243Q probably benign Het
Fsip2 C T 2: 82,815,958 (GRCm39) T3897I probably benign Het
Fut7 T C 2: 25,315,191 (GRCm39) S150P possibly damaging Het
Gstm5 A G 3: 107,804,634 (GRCm39) I73V probably benign Het
Hspb9 A G 11: 100,604,769 (GRCm39) M32V possibly damaging Het
Ift80 A G 3: 68,825,894 (GRCm39) I482T possibly damaging Het
Khk C T 5: 31,079,141 (GRCm39) probably benign Het
Kmt2d A T 15: 98,747,324 (GRCm39) H3333Q unknown Het
Lamc1 G T 1: 153,119,087 (GRCm39) T844K probably damaging Het
Luc7l2 A T 6: 38,542,633 (GRCm39) I10L probably benign Het
Mosmo T A 7: 120,277,055 (GRCm39) I23N probably benign Het
Mtcl2 A G 2: 156,881,919 (GRCm39) V711A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Nfkbiz A T 16: 55,634,347 (GRCm39) V700E probably damaging Het
Oog1 A G 12: 87,653,016 (GRCm39) D104G probably damaging Het
Or4b13 C T 2: 90,082,820 (GRCm39) V171M possibly damaging Het
Pde3a A G 6: 141,437,904 (GRCm39) D991G probably damaging Het
Pds5a G A 5: 65,805,281 (GRCm39) H522Y probably benign Het
Pi4ka A G 16: 17,176,225 (GRCm39) S405P Het
Plk4 T A 3: 40,760,990 (GRCm39) V440E possibly damaging Het
Prkd2 A G 7: 16,577,699 (GRCm39) I51V probably damaging Het
Ptprt T C 2: 161,402,106 (GRCm39) T1042A probably damaging Het
Rsph6a C A 7: 18,801,986 (GRCm39) T600N possibly damaging Het
Scn11a A T 9: 119,611,013 (GRCm39) V946E probably damaging Het
Sec11a G A 7: 80,565,634 (GRCm39) L170F probably damaging Het
Slc15a5 A G 6: 137,961,450 (GRCm39) I215T Het
Slc1a1 A G 19: 28,882,794 (GRCm39) I353V probably benign Het
Smox A G 2: 131,362,843 (GRCm39) E374G possibly damaging Het
Sytl2 A G 7: 90,050,633 (GRCm39) T727A possibly damaging Het
Taar7d A C 10: 23,904,124 (GRCm39) K335N probably benign Het
Tacc2 T A 7: 130,227,985 (GRCm39) S1557T probably benign Het
Tbx19 C A 1: 164,966,609 (GRCm39) V422L probably benign Het
Tdrd1 G T 19: 56,831,679 (GRCm39) V357F probably benign Het
Tdrd6 A G 17: 43,939,231 (GRCm39) C606R probably damaging Het
Tmcc1 C G 6: 116,020,049 (GRCm39) G468R Het
Tmem209 G A 6: 30,506,838 (GRCm39) T93I probably damaging Het
Trpv1 T C 11: 73,141,681 (GRCm39) V568A possibly damaging Het
Tsbp1 A T 17: 34,648,922 (GRCm39) I43L Het
Tubgcp2 T C 7: 139,587,965 (GRCm39) D220G probably damaging Het
Vmn1r11 A G 6: 57,114,992 (GRCm39) R219G possibly damaging Het
Zan A G 5: 137,465,463 (GRCm39) S431P 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
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
Predicted Primers PCR Primer
(F):5'- TCAGAGACGATGCTTAAGACTAC -3'
(R):5'- AGGGTACTGAAAGCCAACTCATAG -3'

Sequencing Primer
(F):5'- CTACAAGGATAGAGATCTCCCTGG -3'
(R):5'- CTGGAAAGATTCATCCTCGGAGC -3'
Posted On 2022-02-07