Incidental Mutation 'IGL02080:Spo11'
ID 186083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spo11
Ensembl Gene ENSMUSG00000005883
Gene Name SPO11 initiator of meiotic double stranded breaks
Synonyms Spo11a, Spo11b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02080
Quality Score
Status
Chromosome 2
Chromosomal Location 172819493-172835369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172831188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 266 (Y266C)
Ref Sequence ENSEMBL: ENSMUSP00000104754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050442] [ENSMUST00000109125] [ENSMUST00000109126]
AlphaFold Q9WTK8
Predicted Effect probably damaging
Transcript: ENSMUST00000050442
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059056
Gene: ENSMUSG00000005883
AA Change: Y291C

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 6.3e-28 PFAM
Pfam:TP6A_N 107 170 3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109125
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104753
Gene: ENSMUSG00000005883
AA Change: Y253C

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 1e-30 PFAM
Pfam:TP6A_N 66 133 3.8e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109126
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104754
Gene: ENSMUSG00000005883
AA Change: Y266C

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 1.1e-30 PFAM
Pfam:TP6A_N 102 146 1.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156471
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are sterile. Mutant males exhibit loss of spermatocytes in early prophase, while mutant females exhibit oocyte loss soon after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd33 A G 7: 43,178,274 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnajc1 A G 2: 18,321,159 (GRCm39) probably benign Het
Dpysl2 A T 14: 67,067,394 (GRCm39) D172E probably benign Het
Fbxw28 A G 9: 109,168,641 (GRCm39) L17P probably damaging Het
Gprin3 C A 6: 59,331,176 (GRCm39) R377M possibly damaging Het
Hectd4 T A 5: 121,504,669 (GRCm39) probably benign Het
Kif26a G T 12: 112,124,000 (GRCm39) A202S probably damaging Het
Lrig2 A T 3: 104,371,440 (GRCm39) D754E probably damaging Het
Lrit2 A G 14: 36,791,031 (GRCm39) K237E probably damaging Het
Med13 A G 11: 86,174,638 (GRCm39) V1729A probably damaging Het
Mon2 A G 10: 122,888,095 (GRCm39) S100P probably damaging Het
Mrnip A G 11: 50,088,502 (GRCm39) D166G probably benign Het
Or1s2 T C 19: 13,758,846 (GRCm39) F288S probably damaging Het
Or4k1 A T 14: 50,377,579 (GRCm39) N172K probably damaging Het
Pkd1l1 T A 11: 8,911,345 (GRCm39) N311Y unknown Het
Ppara A G 15: 85,673,220 (GRCm39) D137G possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scube2 A G 7: 109,451,685 (GRCm39) F156S probably damaging Het
Setd2 T G 9: 110,376,518 (GRCm39) probably null Het
Slc24a2 A G 4: 87,145,383 (GRCm39) C224R probably damaging Het
Snrnp48 A G 13: 38,400,466 (GRCm39) D191G probably damaging Het
Tmem144 G A 3: 79,730,066 (GRCm39) probably benign Het
Tsacc A T 3: 88,202,696 (GRCm39) probably null Het
Unc5d T C 8: 29,381,316 (GRCm39) probably null Het
Unc79 A G 12: 102,968,234 (GRCm39) I153M probably damaging Het
Vgll4 A G 6: 114,839,759 (GRCm39) C178R probably damaging Het
Vmn2r90 T A 17: 17,933,120 (GRCm39) S227T probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Spo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Spo11 APN 2 172,830,825 (GRCm39) critical splice donor site probably null
IGL02309:Spo11 APN 2 172,821,744 (GRCm39) missense probably damaging 0.98
R3027:Spo11 UTSW 2 172,827,736 (GRCm39) missense probably damaging 0.99
R4031:Spo11 UTSW 2 172,828,625 (GRCm39) splice site probably benign
R5000:Spo11 UTSW 2 172,831,193 (GRCm39) missense probably damaging 1.00
R5443:Spo11 UTSW 2 172,831,152 (GRCm39) splice site probably benign
R7185:Spo11 UTSW 2 172,823,985 (GRCm39) splice site probably null
R7486:Spo11 UTSW 2 172,825,870 (GRCm39) missense probably benign 0.01
R7565:Spo11 UTSW 2 172,833,864 (GRCm39) missense possibly damaging 0.65
R7958:Spo11 UTSW 2 172,825,815 (GRCm39) missense probably benign 0.00
R8120:Spo11 UTSW 2 172,827,251 (GRCm39) missense probably damaging 0.98
R9776:Spo11 UTSW 2 172,833,904 (GRCm39) missense possibly damaging 0.92
X0061:Spo11 UTSW 2 172,834,843 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07