Incidental Mutation 'R3807:Ctu1'
ID 274970
Institutional Source Beutler Lab
Gene Symbol Ctu1
Ensembl Gene ENSMUSG00000038888
Gene Name cytosolic thiouridylase subunit 1
Synonyms Atpbd3
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.860) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43321440-43327722 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43326097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 252 (L252P)
Ref Sequence ENSEMBL: ENSMUSP00000036770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038332]
AlphaFold Q99J10
Predicted Effect probably damaging
Transcript: ENSMUST00000038332
AA Change: L252P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036770
Gene: ENSMUSG00000038888
AA Change: L252P

DomainStartEndE-ValueType
Pfam:ATP_bind_3 53 250 2.9e-19 PFAM
low complexity region 273 284 N/A INTRINSIC
Pfam:zn-ribbon_14 285 316 6e-16 PFAM
internal_repeat_1 349 379 7.14e-12 PROSPERO
internal_repeat_1 389 417 7.14e-12 PROSPERO
Meta Mutation Damage Score 0.9264 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Ctu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ctu1 APN 7 43,324,928 (GRCm39) missense possibly damaging 0.93
waverer UTSW 7 43,326,046 (GRCm39) missense probably damaging 0.96
R0557:Ctu1 UTSW 7 43,326,583 (GRCm39) missense unknown
R2974:Ctu1 UTSW 7 43,325,074 (GRCm39) splice site probably benign
R3805:Ctu1 UTSW 7 43,326,097 (GRCm39) missense probably damaging 1.00
R6863:Ctu1 UTSW 7 43,326,046 (GRCm39) missense probably damaging 0.96
R6999:Ctu1 UTSW 7 43,324,662 (GRCm39) missense probably damaging 0.99
R7379:Ctu1 UTSW 7 43,326,490 (GRCm39) small deletion probably benign
R7395:Ctu1 UTSW 7 43,326,019 (GRCm39) missense possibly damaging 0.54
R8870:Ctu1 UTSW 7 43,324,746 (GRCm39) missense probably damaging 1.00
R9066:Ctu1 UTSW 7 43,326,019 (GRCm39) missense possibly damaging 0.54
R9430:Ctu1 UTSW 7 43,326,042 (GRCm39) missense probably damaging 1.00
R9522:Ctu1 UTSW 7 43,324,900 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ATGAACTTCCTGCGTGGTG -3'
(R):5'- TGTGGAGGCTCAACTTGCAG -3'

Sequencing Primer
(F):5'- CTTCCTGCGTGGTGATGCTG -3'
(R):5'- GGCTCAACTTGCAGCACACG -3'
Posted On 2015-04-02