Incidental Mutation 'IGL00715:Spo11'
ID 14225
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 # IGL00715
Quality Score
Status
Chromosome 2
Chromosomal Location 172819493-172835369 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 172830825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050442] [ENSMUST00000109125] [ENSMUST00000109126]
AlphaFold Q9WTK8
Predicted Effect probably null
Transcript: ENSMUST00000050442
SMART Domains Protein: ENSMUSP00000059056
Gene: ENSMUSG00000005883

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 6.3e-28 PFAM
Pfam:TP6A_N 107 170 3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109125
SMART Domains Protein: ENSMUSP00000104753
Gene: ENSMUSG00000005883

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 1e-30 PFAM
Pfam:TP6A_N 66 133 3.8e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109126
SMART Domains Protein: ENSMUSP00000104754
Gene: ENSMUSG00000005883

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 C T 1: 125,322,813 (GRCm39) A385T probably damaging Het
Cdh17 A T 4: 11,797,780 (GRCm39) probably benign Het
Cntnap1 C T 11: 101,074,031 (GRCm39) probably benign Het
Dhrs7 T A 12: 72,699,164 (GRCm39) M296L probably damaging Het
Fmo2 T A 1: 162,716,282 (GRCm39) K102* probably null Het
Foxn3 T C 12: 99,162,866 (GRCm39) E345G possibly damaging Het
Gabrg1 A G 5: 70,973,298 (GRCm39) probably null Het
Gp1ba A C 11: 70,530,744 (GRCm39) probably benign Het
Grwd1 A G 7: 45,480,037 (GRCm39) Y57H probably damaging Het
Hars2 G A 18: 36,918,989 (GRCm39) C83Y probably damaging Het
Il5ra C T 6: 106,689,435 (GRCm39) probably benign Het
Itpr3 T C 17: 27,302,603 (GRCm39) V87A probably benign Het
Lrig2 A G 3: 104,371,264 (GRCm39) V455A probably damaging Het
P2ry10 T A X: 106,146,189 (GRCm39) S41R probably damaging Het
Plcb2 C T 2: 118,544,215 (GRCm39) probably null Het
Plod2 G A 9: 92,480,667 (GRCm39) R420H probably damaging Het
Prkcd T C 14: 30,317,960 (GRCm39) N656S probably damaging Het
Serpinb6a A G 13: 34,115,495 (GRCm39) F42S possibly damaging Het
Sis A G 3: 72,841,457 (GRCm39) I786T probably damaging Het
Slc5a11 C T 7: 122,849,397 (GRCm39) A194V probably null Het
Trap1a A G X: 138,234,983 (GRCm39) D94G unknown Het
Urb1 A G 16: 90,550,209 (GRCm39) probably null Het
Usp1 T C 4: 98,822,818 (GRCm39) probably null Het
Zfp300 T C X: 20,950,493 (GRCm39) D34G probably damaging Het
Zfp507 T C 7: 35,494,137 (GRCm39) E302G possibly damaging Het
Other mutations in Spo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02080:Spo11 APN 2 172,831,188 (GRCm39) missense probably damaging 1.00
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 2012-12-06