Incidental Mutation 'R2996:Nsun7'
ID 257182
Institutional Source Beutler Lab
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 # R2996 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 66417240-66455369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66452897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 571 (H571Q)
Ref Sequence ENSEMBL: ENSMUSP00000144520 (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 benign
Transcript: ENSMUST00000031109
AA Change: H571Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: H571Q

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: ENSMUST00000113720
AA Change: H571Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: H571Q

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 benign
Transcript: ENSMUST00000201100
AA Change: H571Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: H571Q

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 312 479 4.3e-9 PFAM
low complexity region 543 555 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202994
AA Change: H537Q
SMART Domains Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: H537Q

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fam43a A G 16: 30,419,838 (GRCm39) T141A possibly damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Gtpbp3 G A 8: 71,942,140 (GRCm39) G125S possibly damaging Het
Lmbr1 A G 5: 29,568,931 (GRCm39) I30T probably benign Het
Map2k7 C A 8: 4,293,775 (GRCm39) N138K probably benign Het
Mdc1 TGAGGAGGAGGAGGAGGAGGAGGAGGAGG TGAGGAGGAGGAGGAGGAGGAGGAGG 17: 36,158,785 (GRCm39) probably benign Het
Mmab C A 5: 114,574,555 (GRCm39) R184L probably damaging Het
Pfkp A G 13: 6,685,966 (GRCm39) Y23H probably benign Het
Rptor T A 11: 119,747,124 (GRCm39) V13D probably damaging Het
Vmn1r90 T C 7: 14,295,459 (GRCm39) H213R probably 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
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
Predicted Primers PCR Primer
(F):5'- TAAAATGTGCACAGCGATGG -3'
(R):5'- GGGTCGATAAAGGCTTGCTG -3'

Sequencing Primer
(F):5'- TGCACAGCGATGGTGACC -3'
(R):5'- GCTTGCTGGGCTTTCTGAC -3'
Posted On 2015-01-11