Incidental Mutation 'R1863:Topors'
ID 204097
Institutional Source Beutler Lab
Gene Symbol Topors
Ensembl Gene ENSMUSG00000036822
Gene Name topoisomerase I binding, arginine/serine-rich
Synonyms
MMRRC Submission 039886-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.614) question?
Stock # R1863 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40259601-40269850 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 40262149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 378 (C378*)
Ref Sequence ENSEMBL: ENSMUSP00000046843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042575]
AlphaFold Q80Z37
Predicted Effect probably null
Transcript: ENSMUST00000042575
AA Change: C378*
SMART Domains Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: C378*

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.0%
  • 20x: 90.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,527,746 (GRCm39) S1015T probably damaging Het
Adamts10 T A 17: 33,770,406 (GRCm39) probably null Het
Adgrv1 G A 13: 81,711,685 (GRCm39) T1097I probably damaging Het
Apeh T C 9: 107,969,302 (GRCm39) Y274C possibly damaging Het
Apobec3 A G 15: 79,782,068 (GRCm39) D26G possibly damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Asb18 C T 1: 89,942,104 (GRCm39) V66I probably benign Het
Cacna1i G A 15: 80,243,132 (GRCm39) G430S probably damaging Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Cadps A G 14: 12,505,796 (GRCm38) V758A probably benign Het
Calhm3 A G 19: 47,140,539 (GRCm39) W185R probably damaging Het
Car5b T C X: 162,774,369 (GRCm39) D146G probably damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cd300lg T G 11: 101,932,430 (GRCm39) V5G probably damaging Het
Cd46 C A 1: 194,765,931 (GRCm39) G145C probably damaging Het
Chit1 T C 1: 134,078,988 (GRCm39) S433P probably damaging Het
Cntrl G A 2: 35,008,131 (GRCm39) E182K possibly damaging Het
Col6a5 T A 9: 105,817,400 (GRCm39) M304L unknown Het
Cplane1 A G 15: 8,258,077 (GRCm39) I2108V probably benign Het
Cpxm2 C T 7: 131,745,392 (GRCm39) probably null Het
Dbf4 G A 5: 8,447,375 (GRCm39) Q612* probably null Het
Dnah11 G C 12: 118,027,587 (GRCm39) Q1835E possibly damaging Het
Ehbp1l1 A T 19: 5,767,882 (GRCm39) N1140K probably benign Het
Eps8l1 C A 7: 4,468,359 (GRCm39) probably benign Het
Fbxl21 A T 13: 56,674,876 (GRCm39) I76L probably benign Het
Gcnt2 A T 13: 41,014,577 (GRCm39) K249N possibly damaging Het
Gm5819 A G 18: 8,694,179 (GRCm39) T35A probably benign Het
Gm8180 T C 14: 44,021,139 (GRCm39) E23G probably benign Het
Gorab A G 1: 163,231,131 (GRCm39) F8L probably damaging Het
Hlf A G 11: 90,231,652 (GRCm39) L274S probably damaging Het
Il15ra T A 2: 11,728,247 (GRCm39) S137T possibly damaging Het
Krt78 A T 15: 101,855,004 (GRCm39) C936S possibly damaging Het
Lamb2 T C 9: 108,358,583 (GRCm39) S207P probably benign Het
Lce1a1 T C 3: 92,554,118 (GRCm39) S119G unknown Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrp4 T A 2: 91,328,708 (GRCm39) L1536Q probably benign Het
Lrrc25 T C 8: 71,070,596 (GRCm39) S126P possibly damaging Het
Mbd3l2 T C 9: 18,356,217 (GRCm39) S181P possibly damaging Het
Msantd5f6 A T 4: 73,320,037 (GRCm39) Y247* probably null Het
Mss51 C T 14: 20,534,936 (GRCm39) R278H probably damaging Het
Myom3 G A 4: 135,505,348 (GRCm39) M412I probably benign Het
Naa25 T C 5: 121,573,611 (GRCm39) V780A probably benign Het
Naip6 A T 13: 100,437,067 (GRCm39) F485L probably benign Het
Notch1 T C 2: 26,359,962 (GRCm39) Y1251C probably damaging Het
Npas3 A G 12: 54,115,609 (GRCm39) N826D probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2t47 T C 11: 58,442,849 (GRCm39) Y72C probably benign Het
Or4a74 A T 2: 89,440,053 (GRCm39) L131* probably null Het
Or4c35 A T 2: 89,808,754 (GRCm39) I211F probably benign Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or6c66 T C 10: 129,461,217 (GRCm39) T238A probably damaging Het
Or8c8 T G 9: 38,165,016 (GRCm39) M101R probably damaging Het
Or8s16 G T 15: 98,211,372 (GRCm39) Q20K probably benign Het
Osbpl6 G A 2: 76,415,402 (GRCm39) R588H probably damaging Het
Pcdhb17 A T 18: 37,619,164 (GRCm39) D318V probably benign Het
Pcnx2 T A 8: 126,545,525 (GRCm39) E1162V probably damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Ppl T C 16: 4,905,844 (GRCm39) K1484E possibly damaging Het
Pramel7 T C 2: 87,321,675 (GRCm39) E120G probably benign Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Prpf6 T A 2: 181,249,967 (GRCm39) D42E possibly damaging Het
Rbm5 C T 9: 107,627,718 (GRCm39) V408I possibly damaging Het
Rsrp1 G T 4: 134,651,388 (GRCm39) D51Y unknown Het
Sec22a A G 16: 35,168,088 (GRCm39) M141T probably damaging Het
Spryd3 A G 15: 102,026,094 (GRCm39) S417P probably benign Het
Sptbn2 A G 19: 4,782,713 (GRCm39) M550V possibly damaging Het
Sugt1 C T 14: 79,846,434 (GRCm39) T157I probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tas2r122 A T 6: 132,688,065 (GRCm39) L276* probably null Het
Tbc1d14 G A 5: 36,665,037 (GRCm39) S231F probably damaging Het
Tenm3 T A 8: 48,729,381 (GRCm39) I1526F probably benign Het
Tgm2 C T 2: 157,966,139 (GRCm39) C505Y probably damaging Het
Thop1 T C 10: 80,909,151 (GRCm39) Y61H probably damaging Het
Ticam1 G A 17: 56,578,436 (GRCm39) H220Y probably damaging Het
Tle6 T C 10: 81,427,755 (GRCm39) D500G possibly damaging Het
Tm6sf2 T A 8: 70,532,375 (GRCm39) L345Q probably damaging Het
Tnxb T C 17: 34,889,848 (GRCm39) C114R probably damaging Het
Ttc6 G A 12: 57,760,881 (GRCm39) G1544R probably benign Het
Vmn2r4 A T 3: 64,314,410 (GRCm39) N190K probably benign Het
Wdr70 C A 15: 7,950,054 (GRCm39) V447F probably benign Het
Xpa A G 4: 46,155,730 (GRCm39) probably benign Het
Xrcc1 T C 7: 24,270,000 (GRCm39) S474P possibly damaging Het
Zfp658 T G 7: 43,223,323 (GRCm39) F533V possibly damaging Het
Zfp799 G A 17: 33,038,374 (GRCm39) H631Y 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
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
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'- GCCAACATGCACTTGCTCTG -3'
(R):5'- GTTAAAGCGTGAACTTACTGTGC -3'

Sequencing Primer
(F):5'- GCTCTGAACTTGAATAAGATGGTCC -3'
(R):5'- ATGGTTCGCTAGTCAATATCGTCCAG -3'
Posted On 2014-06-23