Incidental Mutation 'R4749:Topors'
ID 357372
Institutional Source Beutler Lab
Gene Symbol Topors
Ensembl Gene ENSMUSG00000036822
Gene Name topoisomerase I binding, arginine/serine-rich
Synonyms
MMRRC Submission 041969-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.614) question?
Stock # R4749 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40259601-40269850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40261015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 756 (S756R)
Ref Sequence ENSEMBL: ENSMUSP00000046843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042575]
AlphaFold Q80Z37
Predicted Effect unknown
Transcript: ENSMUST00000042575
AA Change: S756R
SMART Domains Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: S756R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,204,153 (GRCm39) D79E probably benign Het
Adgra2 A G 8: 27,604,225 (GRCm39) K472E probably damaging Het
Akap9 A G 5: 4,018,737 (GRCm39) D1106G probably benign Het
Arhgap35 T C 7: 16,232,551 (GRCm39) E1367G possibly damaging Het
Arsi A T 18: 61,050,533 (GRCm39) Y472F probably benign Het
Asxl3 A G 18: 22,649,826 (GRCm39) D605G probably damaging Het
Atp6v1e2 C T 17: 87,252,135 (GRCm39) D88N probably benign Het
BC061237 T A 14: 44,743,469 (GRCm39) V169E probably damaging Het
C1galt1 A G 6: 7,866,379 (GRCm39) E75G probably benign Het
C9 G A 15: 6,519,311 (GRCm39) V383I probably benign Het
Ccdc88a A G 11: 29,432,720 (GRCm39) K222R probably benign Het
Ccna2 T C 3: 36,620,391 (GRCm39) S421G probably benign Het
Cflar T G 1: 58,779,431 (GRCm39) V229G possibly damaging Het
Clcn1 A G 6: 42,267,131 (GRCm39) probably null Het
Col14a1 T A 15: 55,315,732 (GRCm39) F1342L unknown Het
Colq C T 14: 31,251,472 (GRCm39) R313H possibly damaging Het
Coro6 A G 11: 77,359,974 (GRCm39) E345G probably damaging Het
Cracd T C 5: 77,006,681 (GRCm39) V1014A unknown Het
Cyb561 A G 11: 105,826,708 (GRCm39) F182L probably benign Het
Dap3 A G 3: 88,833,617 (GRCm39) S317P probably benign Het
Dnah9 G A 11: 65,724,941 (GRCm39) A4404V probably damaging Het
Dsg4 A G 18: 20,579,888 (GRCm39) E31G possibly damaging Het
Dsn1 G A 2: 156,843,660 (GRCm39) L147F probably damaging Het
Dysf T C 6: 84,043,990 (GRCm39) V277A probably damaging Het
Eprs1 T A 1: 185,128,327 (GRCm39) I569K probably damaging Het
Erg T C 16: 95,162,029 (GRCm39) N342S probably damaging Het
Fam114a1 G A 5: 65,166,409 (GRCm39) D247N probably damaging Het
Fat2 A G 11: 55,202,294 (GRCm39) V260A probably benign Het
Foxn4 T C 5: 114,393,628 (GRCm39) D497G probably damaging Het
Fsip2 A G 2: 82,819,629 (GRCm39) I5121V probably benign Het
Gcn1 T A 5: 115,752,461 (GRCm39) D2155E probably benign Het
Glra1 C A 11: 55,427,210 (GRCm39) D42Y probably damaging Het
Gpr171 A G 3: 59,004,887 (GRCm39) V296A probably benign Het
Grid1 T A 14: 35,302,644 (GRCm39) S970T possibly damaging Het
Hcn3 A T 3: 89,057,370 (GRCm39) probably null Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Hsd3b3 G A 3: 98,649,931 (GRCm39) P131S probably damaging Het
Hsp90b1 A G 10: 86,537,672 (GRCm39) V211A probably damaging Het
Htr2c A G X: 145,976,793 (GRCm39) T163A probably benign Het
Ifi208 T A 1: 173,523,180 (GRCm39) D483E possibly damaging Het
Kbtbd6 T A 14: 79,690,727 (GRCm39) V474E possibly damaging Het
Kif21b T A 1: 136,072,487 (GRCm39) Y64* probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Map3k10 T C 7: 27,357,786 (GRCm39) D664G possibly damaging Het
Map3k5 C A 10: 20,007,798 (GRCm39) S1201Y probably benign Het
Mcm2 T C 6: 88,868,973 (GRCm39) E293G possibly damaging Het
Med21 T A 6: 146,551,599 (GRCm39) probably null Het
Mettl18 T C 1: 163,824,354 (GRCm39) V225A probably benign Het
Mmp10 A T 9: 7,508,169 (GRCm39) I432F probably damaging Het
Muc5b T G 7: 141,415,185 (GRCm39) Y2710* probably null Het
Neurl4 A T 11: 69,801,894 (GRCm39) I1282F probably benign Het
Nipbl A T 15: 8,395,313 (GRCm39) H191Q possibly damaging Het
Nktr A G 9: 121,570,759 (GRCm39) D167G probably damaging Het
Nrap A G 19: 56,368,669 (GRCm39) I249T probably damaging Het
Nsfl1c A G 2: 151,351,526 (GRCm39) T297A probably benign Het
Oit3 A T 10: 59,259,904 (GRCm39) C500S probably damaging Het
Or1e1 G A 11: 73,245,322 (GRCm39) V248M probably damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Or4k6 A G 14: 50,476,190 (GRCm39) S51P probably damaging Het
Or5b24 C T 19: 12,912,581 (GRCm39) H160Y probably benign Het
Or5d36 T A 2: 87,900,956 (GRCm39) I257L probably benign Het
Pcnx2 T C 8: 126,614,327 (GRCm39) S375G probably damaging Het
Pgap6 T C 17: 26,335,757 (GRCm39) F48S probably damaging Het
Phf2 A T 13: 48,975,185 (GRCm39) probably null Het
Piezo1 A T 8: 123,213,678 (GRCm39) M1739K possibly damaging Het
Piezo1 G T 8: 123,224,945 (GRCm39) Q654K probably damaging Het
Pml C T 9: 58,141,935 (GRCm39) R299H probably damaging Het
Ppp3cb A T 14: 20,574,130 (GRCm39) M236K probably damaging Het
Prkch T A 12: 73,739,734 (GRCm39) C203S probably damaging Het
Prob1 C T 18: 35,785,869 (GRCm39) R795H possibly damaging Het
Prr22 G C 17: 57,078,274 (GRCm39) E142D possibly damaging Het
Prss56 C A 1: 87,113,305 (GRCm39) A211E possibly damaging Het
Qser1 A C 2: 104,617,649 (GRCm39) S1054R probably benign Het
Rhbdl2 T C 4: 123,720,694 (GRCm39) probably null Het
Rhot2 C A 17: 26,063,248 (GRCm39) G19V probably damaging Het
Rp1l1 C T 14: 64,267,249 (GRCm39) T945M probably damaging Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Sdad1 C T 5: 92,452,836 (GRCm39) R134Q possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sharpin T A 15: 76,231,767 (GRCm39) D314V probably damaging Het
Slc14a2 A T 18: 78,198,796 (GRCm39) L778Q probably damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc4a11 C A 2: 130,532,787 (GRCm39) R222L probably damaging Het
Slc7a10 C T 7: 34,900,187 (GRCm39) P502S probably damaging Het
Sort1 T G 3: 108,263,639 (GRCm39) Y812* probably null Het
Spata31d1b G A 13: 59,866,172 (GRCm39) V1107M probably damaging Het
Tcp10b G A 17: 13,289,832 (GRCm39) probably null Het
Tnc T C 4: 63,913,876 (GRCm39) D1312G possibly damaging Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Ube2o T C 11: 116,432,734 (GRCm39) D744G probably benign Het
Vmn1r224 A G 17: 20,640,013 (GRCm39) I197V probably benign Het
Zc3h18 A T 8: 123,110,382 (GRCm39) D77V 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
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
R7543:Topors UTSW 4 40,268,312 (GRCm39) missense probably damaging 0.99
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'- TTTGGAAGTGAACTCCCGAG -3'
(R):5'- TCACGAAGCAGAAATCGAGATC -3'

Sequencing Primer
(F):5'- TGAACTCCCGAGCCGGC -3'
(R):5'- ATGGAAGCAAATATAAGTGGGAATAC -3'
Posted On 2015-11-11