Incidental Mutation 'R4681:Nsun7'
ID 350022
Institutional Source Beutler Lab
Gene Symbol Nsun7
Ensembl Gene ENSMUSG00000029206
Gene Name NOL1/NOP2/Sun domain family, member 7
Synonyms 4921525L17Rik
MMRRC Submission 042015-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4681 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 66417240-66455369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66418542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 91 (S91T)
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: S91T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: S91T

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 394 477 4.2e-7 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127901
AA Change: N221K
Predicted Effect not run
Transcript: ENSMUST00000131585
AA Change: S14T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200891
Predicted Effect probably benign
Transcript: ENSMUST00000201100
AA Change: S91T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: S91T

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: S91T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: S91T

DomainStartEndE-ValueType
PDB:2B9E|A 205 479 5e-17 PDB
low complexity region 509 521 N/A INTRINSIC
Meta Mutation Damage Score 0.1055 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G T 1: 179,580,361 (GRCm39) T1947K probably benign Het
Ak9 A C 10: 41,303,234 (GRCm39) K1669T unknown Het
Atp4b T C 8: 13,439,700 (GRCm39) E174G probably benign Het
Bcl6 A G 16: 23,787,203 (GRCm39) probably benign Het
Brca2 C G 5: 150,475,863 (GRCm39) probably null Het
Btnl4 A T 17: 34,689,075 (GRCm39) probably null Het
C4a G T 17: 35,036,075 (GRCm39) noncoding transcript Het
Cab39l A G 14: 59,737,054 (GRCm39) D58G probably benign Het
Cacna2d3 A T 14: 29,015,092 (GRCm39) M100K probably damaging Het
Car2 T A 3: 14,960,624 (GRCm39) Y127* probably null Het
Cdhr1 T C 14: 36,818,194 (GRCm39) N86S probably benign Het
Celsr3 A G 9: 108,704,953 (GRCm39) I479V possibly damaging Het
Cfhr1 A T 1: 139,478,667 (GRCm39) Y53* probably null Het
Cgrrf1 A G 14: 47,091,283 (GRCm39) E269G probably benign Het
Cimap3 C A 3: 105,905,701 (GRCm39) G148C probably damaging Het
Clcn7 A T 17: 25,376,935 (GRCm39) H636L probably damaging Het
Cox10 T G 11: 63,867,277 (GRCm39) T240P possibly damaging Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dbt A G 3: 116,326,963 (GRCm39) D104G probably damaging Het
F730035P03Rik T C 7: 99,429,425 (GRCm39) noncoding transcript Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186b T C 15: 99,178,771 (GRCm39) K185R probably benign Het
Fat4 T C 3: 38,941,491 (GRCm39) L128P probably damaging Het
Gbf1 A T 19: 46,268,989 (GRCm39) Q1381L probably benign Het
Glp2r C T 11: 67,621,453 (GRCm39) probably null Het
Gm18025 A G 12: 34,340,884 (GRCm39) S70P probably benign Het
Gpr45 A G 1: 43,072,068 (GRCm39) D237G probably benign Het
Hectd4 A T 5: 121,441,678 (GRCm39) L1213F possibly damaging Het
Hydin T C 8: 111,233,103 (GRCm39) V1734A possibly damaging Het
Kcnh5 A T 12: 75,054,397 (GRCm39) S516T probably benign Het
Liph A C 16: 21,802,777 (GRCm39) S97R probably benign Het
Mtcl1 T C 17: 66,756,139 (GRCm39) T68A unknown Het
Or5an10 T C 19: 12,276,413 (GRCm39) T28A probably benign Het
Or6c75 A G 10: 129,337,433 (GRCm39) I227V probably damaging Het
Pcdh20 A T 14: 88,705,052 (GRCm39) N749K probably damaging Het
Pot1b A T 17: 55,961,831 (GRCm39) D582E probably benign Het
Pxdn T C 12: 30,062,325 (GRCm39) I1212T probably benign Het
Ramp1 T C 1: 91,124,511 (GRCm39) V24A probably benign Het
S100a8 T A 3: 90,576,890 (GRCm39) D14E probably benign Het
Stk31 A G 6: 49,414,369 (GRCm39) D501G probably benign Het
Tbc1d19 G A 5: 54,029,595 (GRCm39) V319M probably damaging Het
Tbcel G T 9: 42,361,268 (GRCm39) H93Q probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Trpm8 A T 1: 88,312,427 (GRCm39) I1103F possibly damaging Het
Ttc19 T A 11: 62,199,917 (GRCm39) C112* probably null Het
Unc5c T G 3: 141,474,374 (GRCm39) probably null Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vmn2r15 T A 5: 109,434,488 (GRCm39) I739F probably damaging Het
Zcchc14 G T 8: 122,335,339 (GRCm39) probably benign Het
Zfp408 G A 2: 91,476,131 (GRCm39) P341L probably damaging Het
Zfp638 G A 6: 83,958,719 (GRCm39) V1166M 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
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
Predicted Primers PCR Primer
(F):5'- AAACTCTTCAACCGTCGTCC -3'
(R):5'- ACACATATGTTTGAGGAGCTAGGC -3'

Sequencing Primer
(F):5'- TCTTCAACCGTCGTCCTAGAAAAAC -3'
(R):5'- GGAGCTAGGCTGCATTCCATTAATTC -3'
Posted On 2015-10-08