Incidental Mutation 'IGL02309:Spo11'
ID 287759
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 # IGL02309
Quality Score
Status
Chromosome 2
Chromosomal Location 172819493-172835369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172821744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 20 (R20G)
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: R20G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059056
Gene: ENSMUSG00000005883
AA Change: R20G

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: R20G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104753
Gene: ENSMUSG00000005883
AA Change: R20G

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: R20G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104754
Gene: ENSMUSG00000005883
AA Change: R20G

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,193,125 (GRCm39) F111S probably benign Het
Afg1l C A 10: 42,330,374 (GRCm39) V98F possibly damaging Het
Agk T A 6: 40,353,210 (GRCm39) D191E possibly damaging Het
Akap5 A G 12: 76,375,629 (GRCm39) K354E possibly damaging Het
Aplp2 A T 9: 31,078,979 (GRCm39) M323K possibly damaging Het
Arhgap23 T C 11: 97,356,827 (GRCm39) probably benign Het
Asl A G 5: 130,048,622 (GRCm39) Y30H probably damaging Het
Asxl3 T A 18: 22,655,510 (GRCm39) H1173Q probably benign Het
Celsr2 C T 3: 108,303,327 (GRCm39) R2472H probably damaging Het
Clip1 T A 5: 123,755,763 (GRCm39) H950L probably damaging Het
Cx3cl1 A T 8: 95,506,660 (GRCm39) T222S probably benign Het
Cyp4a14 T A 4: 115,348,829 (GRCm39) N273Y probably damaging Het
Ddx52 T A 11: 83,839,304 (GRCm39) S214T probably damaging Het
Dennd2d T A 3: 106,402,284 (GRCm39) M318K probably benign Het
Dock3 A T 9: 106,790,351 (GRCm39) D1E probably damaging Het
Farp1 C T 14: 121,480,928 (GRCm39) T443I probably benign Het
Gm2381 C T 7: 42,472,033 (GRCm39) probably benign Het
Gpr87 T A 3: 59,086,975 (GRCm39) I178F possibly damaging Het
Grin2b C T 6: 135,713,470 (GRCm39) E804K probably damaging Het
Gtf2h1 T C 7: 46,465,812 (GRCm39) L421P probably damaging Het
Haghl T G 17: 26,003,638 (GRCm39) H56P probably damaging Het
Heatr3 T C 8: 88,893,700 (GRCm39) L489P probably damaging Het
Ighv6-6 A T 12: 114,398,534 (GRCm39) H77Q probably benign Het
Kdm2b A G 5: 123,085,883 (GRCm39) S243P probably damaging Het
Lamc3 T C 2: 31,804,616 (GRCm39) probably benign Het
Lgr4 T C 2: 109,842,880 (GRCm39) probably benign Het
Lhx3 T C 2: 26,091,385 (GRCm39) Q308R probably benign Het
Lonp2 G A 8: 87,361,491 (GRCm39) E223K probably damaging Het
Lta4h T C 10: 93,310,352 (GRCm39) F407L probably damaging Het
Mndal C T 1: 173,702,021 (GRCm39) G94R probably damaging Het
Nrxn3 A G 12: 89,943,175 (GRCm39) N101S probably damaging Het
Or14c41 T C 7: 86,234,705 (GRCm39) V74A possibly damaging Het
Or51af1 A T 7: 103,141,206 (GRCm39) I293K probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Or8b48 A G 9: 38,492,729 (GRCm39) N52S probably damaging Het
Or8d23 A G 9: 38,842,348 (GRCm39) N294D probably damaging Het
Pknox1 T G 17: 31,809,683 (GRCm39) F96V probably benign Het
Psg25 T G 7: 18,260,349 (GRCm39) Q183P probably damaging Het
Ptgs2 A G 1: 149,981,307 (GRCm39) Y530C probably damaging Het
Sema3e T A 5: 14,274,404 (GRCm39) D218E probably damaging Het
Shank1 G A 7: 43,962,266 (GRCm39) G46R unknown Het
Sidt1 T C 16: 44,075,343 (GRCm39) I672V probably benign Het
Skic3 A G 13: 76,275,166 (GRCm39) T238A possibly damaging Het
Slco1b2 T A 6: 141,618,007 (GRCm39) S486T probably damaging Het
Smchd1 T C 17: 71,750,898 (GRCm39) H340R probably benign Het
Smoc2 C A 17: 14,595,789 (GRCm39) probably benign Het
Snapc1 A G 12: 74,014,801 (GRCm39) Y102C probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tmem229b-ps T C 10: 53,351,466 (GRCm39) noncoding transcript Het
Trim12c T A 7: 103,994,163 (GRCm39) E230D possibly damaging Het
Ttc17 G T 2: 94,173,006 (GRCm39) N796K probably benign Het
Ttn A G 2: 76,709,443 (GRCm39) probably benign Het
Ublcp1 A T 11: 44,349,155 (GRCm39) probably benign Het
Usf3 C T 16: 44,021,026 (GRCm39) T11M probably benign Het
Vmn2r115 T A 17: 23,564,113 (GRCm39) M95K probably benign Het
Wapl A G 14: 34,466,820 (GRCm39) T1160A probably damaging Het
Other mutations in Spo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Spo11 APN 2 172,830,825 (GRCm39) critical splice donor site probably null
IGL02080:Spo11 APN 2 172,831,188 (GRCm39) missense probably damaging 1.00
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 2015-04-16