Incidental Mutation 'R7958:Spo11'
ID 649934
Institutional Source Beutler Lab
Gene Symbol Spo11
Ensembl Gene ENSMUSG00000005883
Gene Name SPO11 initiator of meiotic double stranded breaks
Synonyms Spo11a, Spo11b
MMRRC Submission 046002-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7958 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 172819493-172835369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172825815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 84 (D84E)
Ref Sequence ENSEMBL: ENSMUSP00000059056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050442] [ENSMUST00000109125] [ENSMUST00000109126]
AlphaFold Q9WTK8
Predicted Effect probably benign
Transcript: ENSMUST00000050442
AA Change: D84E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059056
Gene: ENSMUSG00000005883
AA Change: D84E

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 6.3e-28 PFAM
Pfam:TP6A_N 107 170 3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109125
AA Change: D46E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104753
Gene: ENSMUSG00000005883
AA Change: D46E

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 1e-30 PFAM
Pfam:TP6A_N 66 133 3.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109126
AA Change: D46E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104754
Gene: ENSMUSG00000005883
AA Change: D46E

DomainStartEndE-ValueType
Pfam:SPO11_like 2 44 1.1e-30 PFAM
Pfam:TP6A_N 102 146 1.9e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
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
4930590J08Rik A T 6: 91,911,464 (GRCm39) T571S probably benign Het
Abca8a A G 11: 109,922,498 (GRCm39) Y1362H probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Alg8 T C 7: 97,036,128 (GRCm39) C340R possibly damaging Het
BC028528 T C 3: 95,796,224 (GRCm39) D46G probably benign Het
Cdh5 A T 8: 104,839,649 (GRCm39) H40L probably benign Het
Cul3 T C 1: 80,249,274 (GRCm39) T666A probably benign Het
Cwc27 T C 13: 104,941,472 (GRCm39) D150G probably benign Het
Cyp2a12 T A 7: 26,728,677 (GRCm39) N49K probably benign Het
Dhrs4 T C 14: 55,725,078 (GRCm39) L191P probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Fam171a1 T A 2: 3,179,298 (GRCm39) S41R probably damaging Het
Fam186a A T 15: 99,841,189 (GRCm39) L1685H probably damaging Het
Fgfr1 G T 8: 26,022,358 (GRCm39) W2L probably benign Het
Fpr-rs6 T A 17: 20,402,705 (GRCm39) I219F probably damaging Het
Gm28360 T A 1: 117,781,409 (GRCm39) C133* probably null Het
Herc1 A G 9: 66,393,475 (GRCm39) D4118G probably damaging Het
Hhatl A G 9: 121,613,652 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,218 (GRCm39) L384H probably damaging Het
Klhl12 G A 1: 134,395,455 (GRCm39) R139K probably benign Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Krtap19-4 A G 16: 88,681,833 (GRCm39) F41S unknown Het
Lifr T C 15: 7,211,478 (GRCm39) V672A possibly damaging Het
Lrrc25 A G 8: 71,070,497 (GRCm39) T93A possibly damaging Het
Map7 T A 10: 20,105,575 (GRCm39) S9T unknown Het
Mycbp2 A T 14: 103,367,400 (GRCm39) F4281L probably benign Het
Myh10 A G 11: 68,612,173 (GRCm39) I162V probably benign Het
Myo18a T C 11: 77,732,383 (GRCm39) V1293A probably damaging Het
Nipbl A G 15: 8,340,742 (GRCm39) S1993P possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Oas2 C T 5: 120,886,831 (GRCm39) E112K probably benign Het
Oosp3 A T 19: 11,682,820 (GRCm39) I163F probably benign Het
Or8a1 A G 9: 37,641,682 (GRCm39) F199S probably damaging Het
Phkb G T 8: 86,748,292 (GRCm39) E710D probably benign Het
Plekhg4 A T 8: 106,103,281 (GRCm39) D318V possibly damaging Het
Potefam1 T C 2: 111,000,670 (GRCm39) E183G unknown Het
Ptprj T C 2: 90,299,971 (GRCm39) I277V possibly damaging Het
Ranbp17 A G 11: 33,437,702 (GRCm39) S179P probably damaging Het
Scaf8 G A 17: 3,221,397 (GRCm39) V295M unknown Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Serpinb1b A T 13: 33,273,636 (GRCm39) K110N possibly damaging Het
Sgsh T C 11: 119,243,599 (GRCm39) N41S probably damaging Het
Sh2d1b1 A G 1: 170,110,704 (GRCm39) T67A probably benign Het
Skint5 A T 4: 113,480,980 (GRCm39) L958M unknown Het
Spg11 T A 2: 121,923,426 (GRCm39) probably null Het
Spta1 G A 1: 174,001,956 (GRCm39) E29K probably benign Het
Srrm2 T C 17: 24,040,286 (GRCm39) V2310A probably benign Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tbpl2 A T 2: 23,985,079 (GRCm39) probably null Het
Tjp3 C T 10: 81,118,828 (GRCm39) V69I possibly damaging Het
Ube3b T C 5: 114,539,484 (GRCm39) V425A probably benign Het
Vmn1r151 A T 7: 22,198,492 (GRCm39) S204R probably damaging Het
Vmn1r42 A T 6: 89,822,059 (GRCm39) I170N probably damaging Het
Vmn1r65 A G 7: 6,011,254 (GRCm39) S327P probably benign Het
Vmn2r104 T C 17: 20,262,988 (GRCm39) I158V probably benign Het
Wdr49 T A 3: 75,338,454 (GRCm39) M21L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CACACACGGAAGCAATGTGG -3'
(R):5'- GCTATCCAACTAGAAAGAGAGCTAAGC -3'

Sequencing Primer
(F):5'- GTCTACATTAACCGGTGAGCC -3'
(R):5'- GCTTGACCACTGTGTTCT -3'
Posted On 2020-09-15