Incidental Mutation 'IGL02375:Tut1'
ID 291052
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02375
Quality Score
Status
Chromosome 19
Chromosomal Location 8931211-8943574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8941403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 397 (R397C)
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 damaging
Transcript: ENSMUST00000096239
AA Change: R397C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: R397C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152076
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Agxt A G 1: 93,063,425 (GRCm39) E109G probably damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Nup43 A G 10: 7,549,358 (GRCm39) D171G probably damaging Het
Or5b12b A G 19: 12,861,305 (GRCm39) E20G probably benign Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Poli C T 18: 70,656,363 (GRCm39) G155R probably damaging Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Thsd7a A T 6: 12,343,264 (GRCm39) C1118S probably damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P 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
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
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
Posted On 2015-04-16