Incidental Mutation 'IGL01303:Top6bl'
ID 73324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Top6bl
Ensembl Gene ENSMUSG00000071691
Gene Name TOP6B like initiator of meiotic double strand breaks
Synonyms Top6bl, Gm960
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01303
Quality Score
Status
Chromosome 19
Chromosomal Location 4675762-4748696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4709510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 318 (T318A)
Ref Sequence ENSEMBL: ENSMUSP00000136515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]
AlphaFold J3QMY9
Predicted Effect probably benign
Transcript: ENSMUST00000096325
SMART Domains Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691

DomainStartEndE-ValueType
Pfam:DUF4554 120 162 1.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177696
AA Change: T318A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: T318A

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 possibly damaging
Transcript: ENSMUST00000225896
AA Change: T164A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A C 9: 90,053,787 (GRCm39) I111L possibly damaging Het
Ankrd13a A T 5: 114,924,063 (GRCm39) H53L possibly damaging Het
Becn1 T C 11: 101,185,811 (GRCm39) D145G possibly damaging Het
Bod1l A G 5: 41,974,942 (GRCm39) V2124A probably benign Het
Cdcp3 A G 7: 130,796,060 (GRCm39) T72A possibly damaging Het
Celsr1 C T 15: 85,914,692 (GRCm39) A1094T probably damaging Het
Clstn2 A T 9: 97,365,128 (GRCm39) Y459* probably null Het
Cnksr3 A G 10: 7,104,281 (GRCm39) probably null Het
Cux2 A T 5: 122,003,991 (GRCm39) F1048L probably benign Het
Cybrd1 A G 2: 70,960,050 (GRCm39) K83E probably damaging Het
Dpp8 A T 9: 64,962,294 (GRCm39) probably benign Het
Eef2 T A 10: 81,017,777 (GRCm39) V813E possibly damaging Het
Eef2 A T 10: 81,017,816 (GRCm39) probably null Het
Etnk1 T G 6: 143,126,392 (GRCm39) I79S probably damaging Het
Fam151a A G 4: 106,604,790 (GRCm39) N384S possibly damaging Het
Fam83c A G 2: 155,676,362 (GRCm39) L136P probably damaging Het
Gfra2 G A 14: 71,133,292 (GRCm39) V41I probably benign Het
Mroh9 A G 1: 162,908,144 (GRCm39) I2T probably benign Het
Muc2 A G 7: 141,306,132 (GRCm39) I274V probably benign Het
Nacad T G 11: 6,548,279 (GRCm39) E1456A possibly damaging Het
Npy4r T A 14: 33,868,614 (GRCm39) I225F possibly damaging Het
Or3a1b T G 11: 74,012,160 (GRCm39) F15C probably damaging Het
Pik3c2a T C 7: 115,973,038 (GRCm39) D719G possibly damaging Het
Pparg G T 6: 115,449,915 (GRCm39) V305L possibly damaging Het
Rictor A G 15: 6,738,119 (GRCm39) N19D probably benign Het
Slc4a1 T C 11: 102,248,790 (GRCm39) T292A probably benign Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Sorl1 A G 9: 41,935,774 (GRCm39) probably benign Het
Tal1 T C 4: 114,925,489 (GRCm39) V186A probably benign Het
Trpm1 T A 7: 63,860,578 (GRCm39) probably benign Het
Tyw5 A T 1: 57,427,712 (GRCm39) Y297* probably null Het
Unc79 C A 12: 103,128,126 (GRCm39) Q2131K possibly damaging Het
Other mutations in Top6bl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3956:Top6bl UTSW 19 4,742,525 (GRCm39) missense probably benign 0.13
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
Posted On 2013-10-07