Incidental Mutation 'R7091:Tut1'
ID 550242
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
MMRRC Submission 045185-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R7091 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8931211-8943574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8943175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 754 (H754R)
Ref Sequence ENSEMBL: ENSMUSP00000093958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052248] [ENSMUST00000096239]
AlphaFold Q8R3F9
Predicted Effect probably benign
Transcript: ENSMUST00000052248
SMART Domains Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644

DomainStartEndE-ValueType
Pfam:GST_N 2 81 1.5e-25 PFAM
Pfam:GST_N_3 6 83 1.4e-8 PFAM
Pfam:GST_C_3 88 194 8.3e-13 PFAM
Pfam:GST_C 106 198 4.5e-22 PFAM
Pfam:GST_C_2 125 191 8.6e-12 PFAM
low complexity region 238 262 N/A INTRINSIC
EF1G 275 381 3.63e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096239
AA Change: H754R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: H754R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,173 (GRCm39) I111L probably damaging Het
Ank1 A G 8: 23,548,679 (GRCm39) D11G probably benign Het
Ank2 G T 3: 126,817,000 (GRCm39) Q472K probably damaging Het
Apbb2 A T 5: 66,470,677 (GRCm39) L520H probably damaging Het
Baat T C 4: 49,499,692 (GRCm39) K205E probably benign Het
Brca1 T A 11: 101,417,253 (GRCm39) M294L probably benign Het
Capn1 A G 19: 6,041,586 (GRCm39) M641T possibly damaging Het
Cluap1 T A 16: 3,758,670 (GRCm39) D377E probably benign Het
Col6a2 C T 10: 76,450,925 (GRCm39) V39I unknown Het
Crybg3 T A 16: 59,377,531 (GRCm39) D1241V possibly damaging Het
Dnah10 A G 5: 124,893,206 (GRCm39) K3380R probably benign Het
Eml5 T C 12: 98,768,733 (GRCm39) I1400M probably benign Het
Fancd2 A G 6: 113,522,062 (GRCm39) D219G probably damaging Het
Fras1 A G 5: 96,856,535 (GRCm39) S1973G probably benign Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
G3bp1 T A 11: 55,387,047 (GRCm39) H271Q possibly damaging Het
Glce A G 9: 61,967,870 (GRCm39) V427A probably damaging Het
Gm5141 T C 13: 62,921,778 (GRCm39) T464A possibly damaging Het
Gulp1 T A 1: 44,805,294 (GRCm39) F128I probably damaging Het
H2-T13 T C 17: 36,394,833 (GRCm39) E30G possibly damaging Het
Hcrtr1 A C 4: 130,024,707 (GRCm39) L393W probably damaging Het
Heg1 T C 16: 33,547,090 (GRCm39) S650P probably benign Het
Hspa4l T A 3: 40,736,024 (GRCm39) N569K probably benign Het
Ifi206 A G 1: 173,301,441 (GRCm39) F746L unknown Het
Ivl T C 3: 92,479,549 (GRCm39) D172G possibly damaging Het
Lrp5 A T 19: 3,680,184 (GRCm39) D433E probably damaging Het
Mgam T C 6: 40,745,210 (GRCm39) S1826P possibly damaging Het
Ms4a18 A T 19: 10,986,092 (GRCm39) L206M probably damaging Het
Msln A T 17: 25,969,054 (GRCm39) C444S probably damaging Het
Mta1 A G 12: 113,100,022 (GRCm39) D644G probably damaging Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Naa15 T C 3: 51,366,177 (GRCm39) probably null Het
Nadk A G 4: 155,672,215 (GRCm39) H302R probably benign Het
Neb T A 2: 52,146,124 (GRCm39) N15I Het
Nup153 A T 13: 46,837,404 (GRCm39) S1273T probably benign Het
Ofcc1 A G 13: 40,226,243 (GRCm39) I763T probably damaging Het
Or4b13 T C 2: 90,082,807 (GRCm39) Y175C probably damaging Het
Oxsr1 T C 9: 119,113,727 (GRCm39) I107V probably benign Het
Prmt5 A G 14: 54,748,799 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ranbp6 A G 19: 29,790,116 (GRCm39) S79P probably damaging Het
Reln T C 5: 22,104,027 (GRCm39) I3315V probably null Het
Rnf223 T C 4: 156,217,156 (GRCm39) V177A probably benign Het
Slc20a1 C T 2: 129,050,192 (GRCm39) T450M possibly damaging Het
Smg5 C T 3: 88,258,654 (GRCm39) P542S probably benign Het
Sorl1 T A 9: 41,913,930 (GRCm39) Q1333L probably benign Het
Spag5 T A 11: 78,204,017 (GRCm39) probably null Het
Spopfm1 T C 3: 94,173,945 (GRCm39) F314L probably damaging Het
Tdp2 T A 13: 25,022,207 (GRCm39) F209I probably damaging Het
Tgm4 C A 9: 122,869,525 (GRCm39) L35M probably damaging Het
Tma7 A G 9: 108,911,580 (GRCm39) probably benign Het
Tmprss4 A T 9: 45,095,571 (GRCm39) V91D probably damaging Het
Tnfsf4 T A 1: 161,223,268 (GRCm39) M39K probably benign Het
Ttn T A 2: 76,543,912 (GRCm39) T33025S probably benign Het
Vmn2r27 T G 6: 124,200,904 (GRCm39) Q351P possibly damaging Het
Wee2 G T 6: 40,438,936 (GRCm39) G353V probably benign Het
Zfp747l1 C A 7: 126,983,534 (GRCm39) A523S possibly damaging Het
Zfp879 T A 11: 50,724,222 (GRCm39) H278L probably 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
PIT4280001:Tut1 UTSW 19 8,936,626 (GRCm39) missense probably benign 0.00
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
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'- AGGTTCGAGAGACACCTCAG -3'
(R):5'- ACAGTGAGTGTCTGCTCAGC -3'

Sequencing Primer
(F):5'- TTCGAGAGACACCTCAGGACTG -3'
(R):5'- GCAGATGCCACAAAGCTG -3'
Posted On 2019-05-15