Incidental Mutation 'R5724:Toporsl'
ID 452365
Institutional Source Beutler Lab
Gene Symbol Toporsl
Ensembl Gene ENSMUSG00000028314
Gene Name topoisomerase I binding, arginine/serine-rich like
Synonyms 4930547C10Rik
MMRRC Submission 043342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5724 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 52596274-52612430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52611346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 413 (N413I)
Ref Sequence ENSEMBL: ENSMUSP00000103298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029995] [ENSMUST00000107671]
AlphaFold Q9D2F8
Predicted Effect probably damaging
Transcript: ENSMUST00000029995
AA Change: N413I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: N413I

DomainStartEndE-ValueType
low complexity region 256 263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107671
AA Change: N413I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: N413I

DomainStartEndE-ValueType
low complexity region 256 263 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830408C21Rik A T 13: 107,168,905 (GRCm39) noncoding transcript Het
Adam5 T A 8: 25,294,511 (GRCm39) K363* probably null Het
Adamts12 T C 15: 11,286,836 (GRCm39) Y814H probably benign Het
Adar G T 3: 89,642,476 (GRCm39) G119V probably benign Het
Adprs G T 4: 126,211,869 (GRCm39) Q148K probably damaging Het
Atr G T 9: 95,748,641 (GRCm39) L395F probably damaging Het
Bahcc1 A G 11: 120,176,192 (GRCm39) I1946V possibly damaging Het
Bend4 T A 5: 67,575,284 (GRCm39) D199V probably damaging Het
Bpifb1 C A 2: 154,046,712 (GRCm39) H77Q probably benign Het
Clca3a1 T C 3: 144,714,833 (GRCm39) T595A probably benign Het
Crebbp A T 16: 3,905,499 (GRCm39) probably benign Het
Cxcl16 T C 11: 70,349,990 (GRCm39) D12G probably damaging Het
Dnah10 T C 5: 124,819,090 (GRCm39) W459R probably benign Het
Dock8 T C 19: 25,099,785 (GRCm39) L636P probably damaging Het
Eif2ak3 A G 6: 70,853,824 (GRCm39) T197A probably benign Het
Fbxo40 T A 16: 36,790,692 (GRCm39) R139S probably benign Het
Fer C A 17: 64,231,152 (GRCm39) T301K probably damaging Het
Fgf21 A T 7: 45,264,729 (GRCm39) M1K probably null Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm38706 A T 6: 130,459,963 (GRCm39) noncoding transcript Het
H2-Q6 A C 17: 35,644,628 (GRCm39) Y139S probably damaging Het
Ift70a2 T C 2: 75,808,074 (GRCm39) D146G probably benign Het
Igkv4-53 A T 6: 69,625,991 (GRCm39) Y59N probably damaging Het
Jrkl T C 9: 13,244,891 (GRCm39) M257V possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Klhl26 T A 8: 70,904,404 (GRCm39) Y468F probably damaging Het
Lamb2 T A 9: 108,357,950 (GRCm39) probably null Het
Lcp1 A G 14: 75,464,422 (GRCm39) T548A probably benign Het
Lct T A 1: 128,228,073 (GRCm39) Q1140L probably benign Het
Lrp2 T G 2: 69,281,726 (GRCm39) N3882H probably damaging Het
Magi1 A G 6: 93,657,852 (GRCm39) I1126T probably benign Het
Magi1 A G 6: 93,722,682 (GRCm39) S399P probably damaging Het
Med16 A G 10: 79,731,243 (GRCm39) C825R probably damaging Het
Mtx3 C T 13: 92,984,095 (GRCm39) P124L probably damaging Het
Nabp2 C T 10: 128,245,555 (GRCm39) probably benign Het
Or5b113 T A 19: 13,342,515 (GRCm39) H174Q possibly damaging Het
Pak4 A T 7: 28,264,005 (GRCm39) S244T possibly damaging Het
Pccb C T 9: 100,869,900 (GRCm39) V307I probably benign Het
Plekhh2 A G 17: 84,874,233 (GRCm39) D506G probably benign Het
Plk4 T C 3: 40,755,481 (GRCm39) V26A probably damaging Het
Ppp2r3c A T 12: 55,344,617 (GRCm39) M117K probably benign Het
Pramel21 A G 4: 143,344,026 (GRCm39) D442G probably benign Het
Pspc1 C T 14: 57,015,529 (GRCm39) E30K probably benign Het
Reps1 A G 10: 17,990,231 (GRCm39) S448G possibly damaging Het
Rnf34 C T 5: 123,004,952 (GRCm39) Q241* probably null Het
Sgta A T 10: 80,883,522 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Siglech A G 7: 55,418,293 (GRCm39) N87S probably damaging Het
Sptbn1 A G 11: 30,094,113 (GRCm39) I392T possibly damaging Het
St18 T A 1: 6,841,174 (GRCm39) M21K probably benign Het
Sugp1 C T 8: 70,522,799 (GRCm39) R500C probably damaging Het
Tasp1 T C 2: 139,899,339 (GRCm39) K5E probably damaging Het
Tbx3 G A 5: 119,813,668 (GRCm39) V235I possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Zfp60 A G 7: 27,447,758 (GRCm39) Y142C probably benign Het
Other mutations in Toporsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Toporsl APN 4 52,610,172 (GRCm39) missense probably benign 0.21
IGL01611:Toporsl APN 4 52,610,794 (GRCm39) missense probably damaging 1.00
IGL02638:Toporsl APN 4 52,611,624 (GRCm39) missense probably benign 0.39
IGL02642:Toporsl APN 4 52,611,114 (GRCm39) missense probably benign 0.09
IGL03410:Toporsl APN 4 52,611,134 (GRCm39) missense probably benign 0.07
torsion UTSW 4 52,610,489 (GRCm39) missense probably damaging 1.00
wound UTSW 4 52,612,140 (GRCm39) missense possibly damaging 0.90
IGL03134:Toporsl UTSW 4 52,610,281 (GRCm39) missense probably damaging 0.97
R0548:Toporsl UTSW 4 52,612,140 (GRCm39) missense possibly damaging 0.90
R1444:Toporsl UTSW 4 52,610,254 (GRCm39) missense probably benign 0.01
R2165:Toporsl UTSW 4 52,612,072 (GRCm39) missense possibly damaging 0.47
R2295:Toporsl UTSW 4 52,610,176 (GRCm39) missense probably damaging 0.99
R3410:Toporsl UTSW 4 52,610,970 (GRCm39) missense probably benign 0.10
R3905:Toporsl UTSW 4 52,611,750 (GRCm39) nonsense probably null
R4719:Toporsl UTSW 4 52,611,996 (GRCm39) missense probably benign 0.21
R4782:Toporsl UTSW 4 52,610,845 (GRCm39) missense probably damaging 1.00
R5642:Toporsl UTSW 4 52,611,515 (GRCm39) nonsense probably null
R5728:Toporsl UTSW 4 52,611,469 (GRCm39) missense probably benign
R6433:Toporsl UTSW 4 52,611,548 (GRCm39) missense possibly damaging 0.91
R7023:Toporsl UTSW 4 52,611,211 (GRCm39) missense possibly damaging 0.47
R7292:Toporsl UTSW 4 52,611,630 (GRCm39) missense probably benign 0.14
R7294:Toporsl UTSW 4 52,611,903 (GRCm39) missense probably benign 0.03
R7408:Toporsl UTSW 4 52,612,108 (GRCm39) missense probably benign 0.12
R7673:Toporsl UTSW 4 52,610,679 (GRCm39) missense probably damaging 1.00
R7974:Toporsl UTSW 4 52,611,645 (GRCm39) missense probably damaging 1.00
R8156:Toporsl UTSW 4 52,609,975 (GRCm39) start gained probably benign
R8186:Toporsl UTSW 4 52,610,489 (GRCm39) missense probably damaging 1.00
R8744:Toporsl UTSW 4 52,611,967 (GRCm39) missense probably benign 0.01
R9117:Toporsl UTSW 4 52,609,943 (GRCm39) start gained probably benign
R9451:Toporsl UTSW 4 52,611,663 (GRCm39) missense possibly damaging 0.90
R9512:Toporsl UTSW 4 52,610,382 (GRCm39) missense probably benign 0.28
X0065:Toporsl UTSW 4 52,610,539 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAGGCGTGGTGTGTACTAC -3'
(R):5'- GAGAGGTGCTATTTTCGGAGACAC -3'

Sequencing Primer
(F):5'- TCACTGAATTGGGCTTATCTCAG -3'
(R):5'- GTGCTATTTTCGGAGACACAAAGAC -3'
Posted On 2017-01-03