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 66259897-66298026 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66261023 bp (GRCm38)
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: 138,562,300 V278F unknown Het
Actr5 T A 2: 158,631,503 N272K probably damaging Het
Afg3l2 T C 18: 67,434,187 T198A probably benign Het
Aloxe3 A G 11: 69,133,077 Y278C probably damaging Het
Apobec3 A G 15: 79,899,069 I226V Het
Arap2 T A 5: 62,671,078 T917S possibly damaging Het
Arhgap40 T C 2: 158,546,772 L545P probably damaging Het
Atp13a5 A T 16: 29,314,654 L438H probably damaging Het
Atp5s T C 12: 69,741,780 V151A probably damaging Het
BC051142 A T 17: 34,429,948 I43L Het
Ccdc191 T A 16: 43,905,468 Y105N probably damaging Het
Ccdc7a A T 8: 128,799,129 F1406L unknown Het
Celsr1 A G 15: 85,931,270 V1848A possibly damaging Het
Chn1 T A 2: 73,613,155 N417I probably damaging Het
Cmya5 T C 13: 93,094,071 K1503R probably benign Het
Cryz T C 3: 154,611,566 F141L probably benign Het
Dpep2 T A 8: 105,996,384 H13L Het
Eif2b5 C T 16: 20,502,632 R312* probably null Het
Evc A T 5: 37,320,306 M343K probably benign Het
Fbxw17 T A 13: 50,423,331 D86E probably damaging Het
Fbxw9 T A 8: 85,062,227 L202Q probably damaging Het
Fkbp9 G T 6: 56,875,692 V466F probably damaging Het
Fras1 G A 5: 96,657,228 R1243Q probably benign Het
Fsip2 C T 2: 82,985,614 T3897I probably benign Het
Fut7 T C 2: 25,425,179 S150P possibly damaging Het
Gm498 G T 7: 143,881,165 probably null Het
Gstm5 A G 3: 107,897,318 I73V probably benign Het
Hspb9 A G 11: 100,713,943 M32V possibly damaging Het
Ift80 A G 3: 68,918,561 I482T possibly damaging Het
Khk C T 5: 30,921,797 probably benign Het
Kmt2d A T 15: 98,849,443 H3333Q unknown Het
Lamc1 G T 1: 153,243,341 T844K probably damaging Het
Luc7l2 A T 6: 38,565,698 I10L probably benign Het
Mosmo T A 7: 120,677,832 I23N probably benign Het
Nbea AC A 3: 56,090,972 probably null Het
Nfkbiz A T 16: 55,813,984 V700E probably damaging Het
Olfr142 C T 2: 90,252,476 V171M possibly damaging Het
Oog1 A G 12: 87,606,246 D104G probably damaging Het
Pde3a A G 6: 141,492,178 D991G probably damaging Het
Pds5a G A 5: 65,647,938 H522Y probably benign Het
Pi4ka A G 16: 17,358,361 S405P Het
Plk4 T A 3: 40,806,555 V440E possibly damaging Het
Prkd2 A G 7: 16,843,774 I51V probably damaging Het
Ptprt T C 2: 161,560,186 T1042A probably damaging Het
Rsph6a C A 7: 19,068,061 T600N possibly damaging Het
Scn11a A T 9: 119,781,947 V946E probably damaging Het
Sec11a G A 7: 80,915,886 L170F probably damaging Het
Slc15a5 A G 6: 137,984,452 I215T Het
Slc1a1 A G 19: 28,905,394 I353V probably benign Het
Smox A G 2: 131,520,923 E374G possibly damaging Het
Soga1 A G 2: 157,039,999 V711A probably benign Het
Sytl2 A G 7: 90,401,425 T727A possibly damaging Het
Taar7d A C 10: 24,028,226 K335N probably benign Het
Tacc2 T A 7: 130,626,255 S1557T probably benign Het
Tbx19 C A 1: 165,139,040 V422L probably benign Het
Tdrd1 G T 19: 56,843,247 V357F probably benign Het
Tdrd6 A G 17: 43,628,340 C606R probably damaging Het
Tmcc1 C G 6: 116,043,088 G468R Het
Tmem209 G A 6: 30,506,839 T93I probably damaging Het
Trpv1 T C 11: 73,250,855 V568A possibly damaging Het
Tubgcp2 T C 7: 140,008,052 D220G probably damaging Het
Vmn1r11 A G 6: 57,138,007 R219G possibly damaging Het
Zan A G 5: 137,467,201 S431P possibly damaging Het
Other mutations in Nsun7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Nsun7 APN 5 66289503 missense probably benign 0.00
IGL01013:Nsun7 APN 5 66283601 missense possibly damaging 0.87
IGL01355:Nsun7 APN 5 66294868 missense probably damaging 1.00
IGL01768:Nsun7 APN 5 66278700 missense probably benign 0.11
IGL01914:Nsun7 APN 5 66276634 missense probably damaging 1.00
IGL01990:Nsun7 APN 5 66261073 missense probably damaging 1.00
IGL02477:Nsun7 APN 5 66276649 missense probably damaging 0.99
R0071:Nsun7 UTSW 5 66264045 missense probably benign 0.00
R0071:Nsun7 UTSW 5 66264045 missense probably benign 0.00
R0079:Nsun7 UTSW 5 66295513 missense probably benign 0.00
R0255:Nsun7 UTSW 5 66289408 splice site probably benign
R0503:Nsun7 UTSW 5 66283581 splice site probably benign
R0540:Nsun7 UTSW 5 66283634 missense probably damaging 0.98
R1416:Nsun7 UTSW 5 66261080 missense probably damaging 0.98
R1471:Nsun7 UTSW 5 66284229 missense probably benign 0.00
R1942:Nsun7 UTSW 5 66284245 missense probably benign 0.00
R1981:Nsun7 UTSW 5 66261214 missense probably damaging 0.99
R2037:Nsun7 UTSW 5 66261086 missense probably benign 0.06
R2098:Nsun7 UTSW 5 66283712 missense probably damaging 0.98
R2226:Nsun7 UTSW 5 66261219 nonsense probably null
R2996:Nsun7 UTSW 5 66295554 missense probably benign 0.01
R3882:Nsun7 UTSW 5 66278640 missense probably damaging 0.99
R4678:Nsun7 UTSW 5 66261064 missense probably benign 0.00
R4681:Nsun7 UTSW 5 66261199 missense probably benign 0.00
R4997:Nsun7 UTSW 5 66295839 missense probably benign 0.02
R6108:Nsun7 UTSW 5 66295799 missense probably damaging 0.99
R6465:Nsun7 UTSW 5 66295586 missense probably benign 0.35
R6500:Nsun7 UTSW 5 66295484 missense probably benign 0.11
R6746:Nsun7 UTSW 5 66283737 critical splice donor site probably null
R6925:Nsun7 UTSW 5 66277072 missense probably damaging 1.00
R7032:Nsun7 UTSW 5 66264035 missense probably benign 0.02
R7084:Nsun7 UTSW 5 66295421 missense probably damaging 1.00
R7098:Nsun7 UTSW 5 66260983 missense probably damaging 0.98
R7216:Nsun7 UTSW 5 66278657 missense probably damaging 1.00
R7276:Nsun7 UTSW 5 66277141 missense probably benign 0.03
R7803:Nsun7 UTSW 5 66276541 nonsense probably null
R8877:Nsun7 UTSW 5 66295951 nonsense probably null
R9167:Nsun7 UTSW 5 66278651 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