Incidental Mutation 'IGL01611:Toporsl'
ID92095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Toporsl
Ensembl Gene ENSMUSG00000028314
Gene Nametopoisomerase I binding, arginine/serine-rich like
Synonyms4930547C10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01611
Quality Score
Status
Chromosome4
Chromosomal Location52596274-52612430 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52610794 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 229 (L229H)
Ref Sequence ENSEMBL: ENSMUSP00000103298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029995] [ENSMUST00000107671]
Predicted Effect probably damaging
Transcript: ENSMUST00000029995
AA Change: L229H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: L229H

DomainStartEndE-ValueType
low complexity region 256 263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107671
AA Change: L229H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: L229H

DomainStartEndE-ValueType
low complexity region 256 263 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,907,870 L209S possibly damaging Het
Abcc2 G T 19: 43,826,629 V1152F probably damaging Het
Adam9 C T 8: 24,967,196 V639I probably benign Het
Cdc6 A G 11: 98,915,163 I388V probably benign Het
Chrm5 C T 2: 112,480,306 W155* probably null Het
Chrna9 A G 5: 65,970,944 D161G probably damaging Het
Det1 A G 7: 78,827,954 V541A possibly damaging Het
Efhc1 G T 1: 20,990,687 *649L probably null Het
Ehbp1 C T 11: 22,172,883 V146M probably damaging Het
Enam A C 5: 88,503,749 D1039A probably damaging Het
Fam20b A T 1: 156,702,465 V133E probably benign Het
Frem2 T A 3: 53,655,709 Q459L probably benign Het
Gapdhs C T 7: 30,730,441 probably benign Het
Gm3404 T A 5: 146,528,347 V299D possibly damaging Het
Gorasp2 C A 2: 70,689,260 H310N possibly damaging Het
Gpr157 T C 4: 150,101,637 S219P possibly damaging Het
Gpt2 T A 8: 85,519,538 C375* probably null Het
Gtf2h3 T C 5: 124,595,685 S274P probably damaging Het
Hmg20b C T 10: 81,347,475 V83M probably benign Het
Igf2r G T 17: 12,725,415 Y400* probably null Het
Ipo9 A T 1: 135,386,693 W942R possibly damaging Het
Iqch T C 9: 63,496,237 probably null Het
Kcnh3 T C 15: 99,229,502 L393P probably benign Het
Kcnk12 T A 17: 87,797,067 I130L probably benign Het
Lcorl T C 5: 45,747,092 T205A probably damaging Het
Lpar6 G T 14: 73,239,438 A280S probably damaging Het
Mgarp A T 3: 51,389,149 V152E probably damaging Het
Pard3b A G 1: 62,637,862 D1184G probably damaging Het
Pcnt A G 10: 76,436,424 probably null Het
Pde6b A G 5: 108,403,396 N182S possibly damaging Het
Pom121 T C 5: 135,383,672 K516E unknown Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn18 T C 1: 34,459,817 probably benign Het
Rapgef5 C T 12: 117,753,419 probably benign Het
Ryr2 A G 13: 11,591,316 L4460S possibly damaging Het
Sema6b T C 17: 56,129,969 probably null Het
Serpinb6d T A 13: 33,666,392 C67* probably null Het
Sorbs2 T G 8: 45,795,344 V510G probably null Het
Spic T A 10: 88,676,002 I131F possibly damaging Het
Spire2 T C 8: 123,359,398 S290P probably damaging Het
Tas2r117 C T 6: 132,803,484 S195F probably benign Het
Tas2r117 T C 6: 132,803,487 V196A probably damaging Het
Tff1 C T 17: 31,162,729 G58D probably damaging Het
Tmprss11g T C 5: 86,490,781 T283A probably benign Het
Vmn2r80 G A 10: 79,171,654 G488D probably damaging Het
Vps54 T A 11: 21,311,082 V583D probably damaging Het
Vwa1 T C 4: 155,770,798 E286G possibly damaging Het
Vwde A T 6: 13,219,978 I58N probably damaging Het
Zbtb11 T C 16: 55,980,610 V109A probably damaging Het
Zfp319 C T 8: 95,328,912 R221Q probably benign Het
Other mutations in Toporsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Toporsl APN 4 52610172 missense probably benign 0.21
IGL02638:Toporsl APN 4 52611624 missense probably benign 0.39
IGL02642:Toporsl APN 4 52611114 missense probably benign 0.09
IGL03410:Toporsl APN 4 52611134 missense probably benign 0.07
torsion UTSW 4 52610489 missense probably damaging 1.00
wound UTSW 4 52612140 missense possibly damaging 0.90
IGL03134:Toporsl UTSW 4 52610281 missense probably damaging 0.97
R0548:Toporsl UTSW 4 52612140 missense possibly damaging 0.90
R1444:Toporsl UTSW 4 52610254 missense probably benign 0.01
R2165:Toporsl UTSW 4 52612072 missense possibly damaging 0.47
R2295:Toporsl UTSW 4 52610176 missense probably damaging 0.99
R3410:Toporsl UTSW 4 52610970 missense probably benign 0.10
R3905:Toporsl UTSW 4 52611750 nonsense probably null
R4719:Toporsl UTSW 4 52611996 missense probably benign 0.21
R4782:Toporsl UTSW 4 52610845 missense probably damaging 1.00
R5642:Toporsl UTSW 4 52611515 nonsense probably null
R5724:Toporsl UTSW 4 52611346 missense probably damaging 1.00
R5728:Toporsl UTSW 4 52611469 missense probably benign
R6433:Toporsl UTSW 4 52611548 missense possibly damaging 0.91
R7023:Toporsl UTSW 4 52611211 missense possibly damaging 0.47
R7292:Toporsl UTSW 4 52611630 missense probably benign 0.14
R7294:Toporsl UTSW 4 52611903 missense probably benign 0.03
R7408:Toporsl UTSW 4 52612108 missense probably benign 0.12
R7673:Toporsl UTSW 4 52610679 missense probably damaging 1.00
R7974:Toporsl UTSW 4 52611645 missense probably damaging 1.00
R8156:Toporsl UTSW 4 52609975 start gained probably benign
R8186:Toporsl UTSW 4 52610489 missense probably damaging 1.00
R8744:Toporsl UTSW 4 52611967 missense probably benign 0.01
X0065:Toporsl UTSW 4 52610539 missense probably damaging 0.99
Posted On2013-12-09