Incidental Mutation 'R7543:Topors'
ID 583996
Institutional Source Beutler Lab
Gene Symbol Topors
Ensembl Gene ENSMUSG00000036822
Gene Name topoisomerase I binding, arginine/serine-rich
Synonyms
MMRRC Submission 045615-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.614) question?
Stock # R7543 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 40259601-40269850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40268312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000046843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042575] [ENSMUST00000095128] [ENSMUST00000108108] [ENSMUST00000129758]
AlphaFold Q80Z37
Predicted Effect probably damaging
Transcript: ENSMUST00000042575
AA Change: S65P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: S65P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 29 44 N/A INTRINSIC
RING 104 142 7.27e-7 SMART
low complexity region 196 209 N/A INTRINSIC
low complexity region 381 391 N/A INTRINSIC
low complexity region 434 454 N/A INTRINSIC
low complexity region 465 478 N/A INTRINSIC
low complexity region 494 505 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 589 610 N/A INTRINSIC
low complexity region 620 696 N/A INTRINSIC
low complexity region 756 780 N/A INTRINSIC
low complexity region 837 860 N/A INTRINSIC
low complexity region 877 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095128
SMART Domains Protein: ENSMUSP00000092746
Gene: ENSMUSG00000071014

DomainStartEndE-ValueType
Pfam:NDUF_B6 1 128 2e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108108
SMART Domains Protein: ENSMUSP00000103743
Gene: ENSMUSG00000071014

DomainStartEndE-ValueType
Pfam:NDUF_B6 1 62 1.5e-22 PFAM
Pfam:NDUF_B6 55 97 3.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129758
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,559,920 (GRCm39) S54T probably damaging Het
Acsl5 G A 19: 55,266,615 (GRCm39) V59I Het
Acss2 A T 2: 155,391,755 (GRCm39) I203F probably damaging Het
Add2 A G 6: 86,083,207 (GRCm39) N435S probably damaging Het
Afap1l1 T C 18: 61,889,972 (GRCm39) D88G probably benign Het
Ajm1 C A 2: 25,467,410 (GRCm39) A834S possibly damaging Het
Ank3 C T 10: 69,786,846 (GRCm39) T970M possibly damaging Het
Ap3b2 A T 7: 81,115,894 (GRCm39) probably null Het
Apc2 A G 10: 80,150,720 (GRCm39) K1925E possibly damaging Het
Aspscr1 A G 11: 120,600,249 (GRCm39) N130D unknown Het
B3glct A G 5: 149,677,604 (GRCm39) D411G probably damaging Het
Bard1 T C 1: 71,114,589 (GRCm39) K131E probably damaging Het
Bche T C 3: 73,609,066 (GRCm39) D120G probably damaging Het
Brms1l A T 12: 55,914,997 (GRCm39) D302V probably damaging Het
Ccdc191 T A 16: 43,718,572 (GRCm39) Y56* probably null Het
Cela3a T A 4: 137,129,883 (GRCm39) H246L probably damaging Het
Col11a2 A T 17: 34,269,430 (GRCm39) D440V unknown Het
Cplane1 T C 15: 8,254,876 (GRCm39) I21T unknown Het
Dag1 C T 9: 108,095,280 (GRCm39) V71I probably benign Het
Ddx23 A G 15: 98,556,139 (GRCm39) S60P unknown Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Dync1i1 T C 6: 5,784,464 (GRCm39) S103P possibly damaging Het
Erap1 T A 13: 74,822,753 (GRCm39) D755E probably damaging Het
Exosc8 T C 3: 54,636,669 (GRCm39) T221A probably benign Het
Fbxo4 T C 15: 4,007,385 (GRCm39) D93G probably damaging Het
Fzd5 A G 1: 64,774,999 (GRCm39) V254A probably damaging Het
Gbp3 T C 3: 142,272,341 (GRCm39) V281A probably damaging Het
Gcc2 T A 10: 58,107,086 (GRCm39) I774K probably benign Het
Gpr132 A C 12: 112,815,822 (GRCm39) C335G probably benign Het
Gpr162 G T 6: 124,838,355 (GRCm39) Y98* probably null Het
H2-T24 T C 17: 36,325,743 (GRCm39) T283A possibly damaging Het
Hoxc6 A G 15: 102,918,186 (GRCm39) Y50C probably damaging Het
Il4i1 A G 7: 44,486,199 (GRCm39) N53S possibly damaging Het
Iqcf3 T C 9: 106,431,425 (GRCm39) K60R possibly damaging Het
Kif24 A T 4: 41,413,993 (GRCm39) Y316* probably null Het
Krt18 A G 15: 101,939,896 (GRCm39) K365E probably damaging Het
Lrguk T A 6: 34,025,870 (GRCm39) L222* probably null Het
Mbd1 T G 18: 74,407,520 (GRCm39) V210G probably damaging Het
Ms4a6b A G 19: 11,499,155 (GRCm39) I90V not run Het
Muc16 A G 9: 18,556,028 (GRCm39) S3422P unknown Het
Mynn G A 3: 30,661,188 (GRCm39) W90* probably null Het
Or5p5 T A 7: 107,414,308 (GRCm39) N172K probably damaging Het
Pdpr T A 8: 111,859,520 (GRCm39) H687Q probably damaging Het
Pkd1 A G 17: 24,814,227 (GRCm39) E4199G probably damaging Het
Plekhg5 A G 4: 152,192,491 (GRCm39) E517G probably damaging Het
Plxna1 T C 6: 89,299,837 (GRCm39) D1644G probably damaging Het
Pon1 C T 6: 5,168,400 (GRCm39) V336M possibly damaging Het
Pop1 T A 15: 34,530,593 (GRCm39) L1027Q probably damaging Het
Pramel1 T C 4: 143,124,993 (GRCm39) S306P probably damaging Het
Prpsap2 A T 11: 61,635,797 (GRCm39) F168I possibly damaging Het
Rabgap1 T A 2: 37,359,444 (GRCm39) D2E probably damaging Het
Rgmb A T 17: 16,027,777 (GRCm39) L314Q probably damaging Het
Ryr2 C T 13: 11,653,317 (GRCm39) probably null Het
Samd4b A T 7: 28,113,711 (GRCm39) S85T probably benign Het
Sfrp5 T C 19: 42,187,302 (GRCm39) D256G possibly damaging Het
Slc25a23 A G 17: 57,365,106 (GRCm39) probably null Het
Sox5 A G 6: 143,786,905 (GRCm39) I589T probably damaging Het
Sybu T A 15: 44,546,848 (GRCm39) probably null Het
Syne2 A G 12: 75,953,616 (GRCm39) E515G possibly damaging Het
Tbc1d17 G A 7: 44,495,503 (GRCm39) A107V probably benign Het
Tcstv2c A C 13: 120,616,290 (GRCm39) E43A probably damaging Het
Tex50 G T 1: 160,984,817 (GRCm39) T141K possibly damaging Het
Tmc7 A G 7: 118,144,979 (GRCm39) L527P probably benign Het
Tns4 T A 11: 98,963,079 (GRCm39) D547V probably benign Het
Trdc T A 14: 54,381,692 (GRCm39) S126T Het
Ttc27 A T 17: 75,024,745 (GRCm39) probably benign Het
Wdfy3 A C 5: 102,083,925 (GRCm39) I787S probably benign Het
Zc3h11a T C 1: 133,554,768 (GRCm39) D404G possibly damaging Het
Zfp799 A G 17: 33,039,534 (GRCm39) I244T probably benign Het
Zfp93 A G 7: 23,974,533 (GRCm39) T173A probably benign Het
Zfp953 T A 13: 67,495,953 (GRCm39) L29F probably damaging Het
Other mutations in Topors
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Topors APN 4 40,262,417 (GRCm39) missense probably damaging 1.00
IGL01541:Topors APN 4 40,262,364 (GRCm39) missense possibly damaging 0.70
IGL02093:Topors APN 4 40,261,467 (GRCm39) missense probably damaging 0.98
R0039:Topors UTSW 4 40,262,772 (GRCm39) missense probably damaging 1.00
R0483:Topors UTSW 4 40,261,952 (GRCm39) missense probably damaging 0.96
R0645:Topors UTSW 4 40,260,333 (GRCm39) missense unknown
R1413:Topors UTSW 4 40,261,982 (GRCm39) missense probably benign 0.01
R1507:Topors UTSW 4 40,261,829 (GRCm39) missense probably damaging 0.99
R1677:Topors UTSW 4 40,261,776 (GRCm39) missense probably damaging 0.99
R1863:Topors UTSW 4 40,262,149 (GRCm39) nonsense probably null
R1960:Topors UTSW 4 40,261,044 (GRCm39) missense unknown
R2035:Topors UTSW 4 40,262,879 (GRCm39) missense probably damaging 1.00
R2155:Topors UTSW 4 40,262,790 (GRCm39) missense possibly damaging 0.72
R2519:Topors UTSW 4 40,261,714 (GRCm39) nonsense probably null
R3035:Topors UTSW 4 40,269,673 (GRCm39) critical splice donor site probably null
R3037:Topors UTSW 4 40,269,673 (GRCm39) critical splice donor site probably null
R3842:Topors UTSW 4 40,262,123 (GRCm39) missense probably benign 0.01
R4090:Topors UTSW 4 40,260,794 (GRCm39) missense unknown
R4668:Topors UTSW 4 40,262,669 (GRCm39) missense probably damaging 0.98
R4686:Topors UTSW 4 40,261,694 (GRCm39) missense probably benign 0.03
R4694:Topors UTSW 4 40,261,442 (GRCm39) missense possibly damaging 0.94
R4749:Topors UTSW 4 40,261,015 (GRCm39) missense unknown
R5228:Topors UTSW 4 40,262,367 (GRCm39) missense probably damaging 1.00
R5304:Topors UTSW 4 40,262,541 (GRCm39) missense possibly damaging 0.50
R5725:Topors UTSW 4 40,261,952 (GRCm39) missense probably damaging 0.96
R6617:Topors UTSW 4 40,261,896 (GRCm39) nonsense probably null
R6699:Topors UTSW 4 40,262,300 (GRCm39) missense probably damaging 0.97
R6869:Topors UTSW 4 40,261,201 (GRCm39) missense unknown
R7103:Topors UTSW 4 40,261,706 (GRCm39) missense probably benign 0.03
R7319:Topors UTSW 4 40,260,540 (GRCm39) missense unknown
R7545:Topors UTSW 4 40,262,173 (GRCm39) missense possibly damaging 0.91
R7559:Topors UTSW 4 40,261,401 (GRCm39) missense unknown
R7748:Topors UTSW 4 40,262,654 (GRCm39) missense probably damaging 1.00
R7899:Topors UTSW 4 40,260,356 (GRCm39) missense unknown
R8045:Topors UTSW 4 40,261,988 (GRCm39) missense probably benign 0.17
R8056:Topors UTSW 4 40,262,221 (GRCm39) missense probably benign 0.30
R8221:Topors UTSW 4 40,260,686 (GRCm39) missense unknown
R8846:Topors UTSW 4 40,262,952 (GRCm39) missense probably damaging 0.98
R9001:Topors UTSW 4 40,261,696 (GRCm39) missense possibly damaging 0.65
R9582:Topors UTSW 4 40,260,460 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TATTCAGTTGCGCTCCAGCC -3'
(R):5'- CGTTCTACGTCATAGGGGTC -3'

Sequencing Primer
(F):5'- CTTCAGGCAGTGCAGGGAGAC -3'
(R):5'- TACGTCATAGGGGTCGCAGC -3'
Posted On 2019-10-17