Incidental Mutation 'PIT4280001:Tut1'
ID 554440
Institutional Source Beutler Lab
Gene Symbol Tut1
Ensembl Gene ENSMUSG00000071645
Gene Name terminal uridylyl transferase 1, U6 snRNA-specific
Synonyms Rbm21, 2700038E08Rik, PAPD2, TUTase6, Tent1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8931211-8943574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 8936626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 150 (V150G)
Ref Sequence ENSEMBL: ENSMUSP00000093958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096239]
AlphaFold Q8R3F9
Predicted Effect probably benign
Transcript: ENSMUST00000096239
AA Change: V150G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: V150G

DomainStartEndE-ValueType
ZnF_C2H2 16 40 1.53e-1 SMART
RRM 57 124 2.02e-10 SMART
SCOP:d1f5aa2 173 221 1e-3 SMART
low complexity region 242 258 N/A INTRINSIC
low complexity region 300 314 N/A INTRINSIC
low complexity region 324 347 N/A INTRINSIC
low complexity region 423 434 N/A INTRINSIC
Pfam:PAP_assoc 493 552 2.7e-8 PFAM
low complexity region 594 618 N/A INTRINSIC
low complexity region 767 782 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M possibly damaging Het
Other mutations in Tut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Tut1 APN 19 8,936,460 (GRCm39) missense probably damaging 1.00
IGL01934:Tut1 APN 19 8,931,355 (GRCm39) missense probably damaging 1.00
IGL01980:Tut1 APN 19 8,931,364 (GRCm39) missense probably damaging 1.00
IGL02115:Tut1 APN 19 8,942,676 (GRCm39) missense probably damaging 1.00
IGL02375:Tut1 APN 19 8,941,403 (GRCm39) missense probably damaging 1.00
IGL02683:Tut1 APN 19 8,942,622 (GRCm39) missense probably benign 0.31
IGL02899:Tut1 APN 19 8,939,751 (GRCm39) missense probably damaging 1.00
IGL02953:Tut1 APN 19 8,940,056 (GRCm39) missense probably damaging 1.00
R0014:Tut1 UTSW 19 8,939,811 (GRCm39) missense possibly damaging 0.61
R0014:Tut1 UTSW 19 8,939,811 (GRCm39) missense possibly damaging 0.61
R0033:Tut1 UTSW 19 8,940,123 (GRCm39) missense probably benign 0.03
R0091:Tut1 UTSW 19 8,942,800 (GRCm39) missense probably damaging 0.97
R0173:Tut1 UTSW 19 8,942,847 (GRCm39) nonsense probably null
R0362:Tut1 UTSW 19 8,932,891 (GRCm39) missense possibly damaging 0.94
R0371:Tut1 UTSW 19 8,940,137 (GRCm39) missense probably damaging 0.98
R0386:Tut1 UTSW 19 8,932,919 (GRCm39) missense probably benign 0.00
R1022:Tut1 UTSW 19 8,936,719 (GRCm39) missense probably benign
R1024:Tut1 UTSW 19 8,936,719 (GRCm39) missense probably benign
R1539:Tut1 UTSW 19 8,942,850 (GRCm39) missense probably benign 0.02
R1921:Tut1 UTSW 19 8,943,466 (GRCm39) missense probably benign
R1958:Tut1 UTSW 19 8,936,677 (GRCm39) missense probably damaging 1.00
R2508:Tut1 UTSW 19 8,932,931 (GRCm39) missense probably damaging 0.98
R4757:Tut1 UTSW 19 8,936,672 (GRCm39) missense possibly damaging 0.83
R5104:Tut1 UTSW 19 8,936,698 (GRCm39) missense probably benign 0.03
R5185:Tut1 UTSW 19 8,932,814 (GRCm39) missense probably benign 0.07
R6999:Tut1 UTSW 19 8,943,382 (GRCm39) missense probably damaging 1.00
R7084:Tut1 UTSW 19 8,942,778 (GRCm39) missense probably benign
R7091:Tut1 UTSW 19 8,943,175 (GRCm39) missense probably benign
R7313:Tut1 UTSW 19 8,941,413 (GRCm39) missense probably benign 0.00
R7361:Tut1 UTSW 19 8,942,698 (GRCm39) missense probably damaging 1.00
R7730:Tut1 UTSW 19 8,941,740 (GRCm39) critical splice donor site probably null
R7731:Tut1 UTSW 19 8,936,626 (GRCm39) missense probably benign 0.01
R8021:Tut1 UTSW 19 8,932,873 (GRCm39) missense probably benign 0.32
R8355:Tut1 UTSW 19 8,936,626 (GRCm39) missense probably benign
R8455:Tut1 UTSW 19 8,936,626 (GRCm39) missense probably benign
R8989:Tut1 UTSW 19 8,937,116 (GRCm39) missense possibly damaging 0.89
R9581:Tut1 UTSW 19 8,941,981 (GRCm39) missense probably benign 0.07
Z1177:Tut1 UTSW 19 8,942,596 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGTTGCCAAAGACCATCATC -3'
(R):5'- GGAGCTCCCCATTCAAGAAC -3'

Sequencing Primer
(F):5'- AAAGACCATCATCTTTGCTCTCATG -3'
(R):5'- CCTACAGCTTAGGGAGGGTTC -3'
Posted On 2019-06-07