Incidental Mutation 'R3956:Top6bl'
ID 310731
Institutional Source Beutler Lab
Gene Symbol Top6bl
Ensembl Gene ENSMUSG00000071691
Gene Name TOP6B like initiator of meiotic double strand breaks
Synonyms Top6bl, Gm960
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R3956 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4675762-4748696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4742525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 214 (T214S)
Ref Sequence ENSEMBL: ENSMUSP00000136515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]
AlphaFold J3QMY9
Predicted Effect unknown
Transcript: ENSMUST00000096325
AA Change: T60S
SMART Domains Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: T60S

DomainStartEndE-ValueType
Pfam:DUF4554 120 162 1.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177696
AA Change: T214S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: T214S

DomainStartEndE-ValueType
low complexity region 65 79 N/A INTRINSIC
low complexity region 106 122 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF4554 274 719 5.3e-206 PFAM
low complexity region 720 731 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000225896
AA Change: T60S
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Creld1 A G 6: 113,469,190 (GRCm39) D340G possibly damaging Het
Cyrib T C 15: 63,813,823 (GRCm39) Y158C probably damaging Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) probably benign Het
Other mutations in Top6bl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Top6bl APN 19 4,709,510 (GRCm39) missense possibly damaging 0.93
IGL01678:Top6bl APN 19 4,722,193 (GRCm39) missense possibly damaging 0.94
IGL02160:Top6bl APN 19 4,713,612 (GRCm39) missense probably damaging 1.00
IGL02308:Top6bl APN 19 4,713,583 (GRCm39) missense probably damaging 1.00
IGL03375:Top6bl APN 19 4,748,206 (GRCm39) missense probably benign 0.26
R0485:Top6bl UTSW 19 4,708,442 (GRCm39) missense probably damaging 1.00
R0671:Top6bl UTSW 19 4,676,216 (GRCm39) missense probably damaging 0.97
R1583:Top6bl UTSW 19 4,702,199 (GRCm39) missense probably damaging 1.00
R2049:Top6bl UTSW 19 4,748,633 (GRCm39) utr 5 prime probably benign
R4554:Top6bl UTSW 19 4,699,847 (GRCm39) missense possibly damaging 0.95
R4635:Top6bl UTSW 19 4,748,524 (GRCm39) utr 5 prime probably benign
R4717:Top6bl UTSW 19 4,675,901 (GRCm39) unclassified probably benign
R4996:Top6bl UTSW 19 4,676,112 (GRCm39) missense probably benign 0.09
R5133:Top6bl UTSW 19 4,708,449 (GRCm39) missense probably damaging 1.00
R5752:Top6bl UTSW 19 4,676,048 (GRCm39) missense probably benign 0.28
R6277:Top6bl UTSW 19 4,677,250 (GRCm39) nonsense probably null
R6348:Top6bl UTSW 19 4,722,106 (GRCm39) missense probably damaging 0.96
R7386:Top6bl UTSW 19 4,713,586 (GRCm39) nonsense probably null
R7673:Top6bl UTSW 19 4,695,661 (GRCm39) missense probably damaging 1.00
R7866:Top6bl UTSW 19 4,748,514 (GRCm39) missense unknown
R7874:Top6bl UTSW 19 4,708,451 (GRCm39) missense probably damaging 1.00
R8892:Top6bl UTSW 19 4,699,721 (GRCm39) missense possibly damaging 0.52
R8983:Top6bl UTSW 19 4,695,714 (GRCm39) missense possibly damaging 0.66
R9245:Top6bl UTSW 19 4,746,068 (GRCm39) missense possibly damaging 0.84
R9522:Top6bl UTSW 19 4,677,274 (GRCm39) missense probably benign 0.02
Z1176:Top6bl UTSW 19 4,675,931 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAAACTTAAGTGGGCAGCC -3'
(R):5'- TAGGTGAAAAGAACTGCCTGTG -3'

Sequencing Primer
(F):5'- AACTCACTTTGTAGACCAGGCTGG -3'
(R):5'- TCAGAGTCCCACTGATCTG -3'
Posted On 2015-04-29