Incidental Mutation 'IGL01980:Tut1'
ID182695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tut1
Ensembl Gene ENSMUSG00000071645
Gene Nameterminal uridylyl transferase 1, U6 snRNA-specific
SynonymsPAPD2, Rbm21, 2700038E08Rik, TUTase6
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.571) question?
Stock #IGL01980
Quality Score
Status
Chromosome19
Chromosomal Location8953850-8966207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8954000 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 21 (C21R)
Ref Sequence ENSEMBL: ENSMUSP00000093958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096239] [ENSMUST00000096240]
Predicted Effect probably damaging
Transcript: ENSMUST00000096239
AA Change: C21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: C21R

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 probably benign
Transcript: ENSMUST00000096240
SMART Domains Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646

DomainStartEndE-ValueType
BAH 4 144 7.34e-34 SMART
ELM2 147 201 5.58e-15 SMART
SANT 264 313 2.24e-7 SMART
ZnF_GATA 361 415 5.5e-15 SMART
low complexity region 475 490 N/A INTRINSIC
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 C T 2: 173,571,203 C164Y probably benign Het
Atp13a2 C T 4: 141,006,152 A979V probably benign Het
Col5a2 C T 1: 45,382,233 probably benign Het
Col6a6 T C 9: 105,780,985 N676S probably damaging Het
Cpa1 T C 6: 30,641,582 F192L possibly damaging Het
Entpd6 T A 2: 150,762,366 probably null Het
Fam185a A G 5: 21,459,173 K302E probably damaging Het
Il12rb2 T C 6: 67,360,535 K121E probably benign Het
Impg2 G A 16: 56,221,527 C178Y probably damaging Het
Kdm3b G T 18: 34,834,236 C1698F probably damaging Het
Llgl2 A G 11: 115,850,025 D451G probably damaging Het
Mgat4b T A 11: 50,230,713 L52Q probably damaging Het
Mmp9 C A 2: 164,950,916 S363R probably benign Het
Mtfmt A G 9: 65,437,074 Y94C probably benign Het
Myo7b G A 18: 31,961,900 L1881F possibly damaging Het
Olfr642 A T 7: 104,050,093 M87K probably benign Het
Olfr782 G T 10: 129,351,517 probably benign Het
Pex5 T C 6: 124,398,380 N524S probably damaging Het
Plppr1 A T 4: 49,319,992 Y206F possibly damaging Het
Polr3e A G 7: 120,940,296 probably benign Het
Rhbdd1 A G 1: 82,340,834 probably benign Het
Rims4 A T 2: 163,865,782 probably benign Het
Smarcal1 A T 1: 72,616,520 K653* probably null Het
Stt3b C T 9: 115,276,699 probably null Het
Syt8 C A 7: 142,440,140 L343M probably damaging Het
Tbc1d23 G A 16: 57,189,252 probably benign Het
Tfec T C 6: 16,845,466 I65V probably damaging Het
Tmem236 A T 2: 14,218,905 Q168H probably benign Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Tnip2 A G 5: 34,496,868 V288A probably benign Het
Ttc1 G A 11: 43,730,464 probably benign Het
Tubb4b-ps1 A C 5: 7,179,843 probably benign Het
Ubr4 C A 4: 139,429,602 Q2313K probably damaging Het
Unc5b T C 10: 60,780,187 E119G probably damaging Het
Vmn1r23 T A 6: 57,926,490 Q101L probably damaging Het
Vmn2r77 A G 7: 86,801,470 D188G probably benign Het
Vmn2r79 A G 7: 87,037,082 E557G possibly damaging Het
Zfp738 A G 13: 67,669,977 F632L possibly damaging Het
Other mutations in Tut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Tut1 APN 19 8959096 missense probably damaging 1.00
IGL01934:Tut1 APN 19 8953991 missense probably damaging 1.00
IGL02115:Tut1 APN 19 8965312 missense probably damaging 1.00
IGL02375:Tut1 APN 19 8964039 missense probably damaging 1.00
IGL02683:Tut1 APN 19 8965258 missense probably benign 0.31
IGL02899:Tut1 APN 19 8962387 missense probably damaging 1.00
IGL02953:Tut1 APN 19 8962692 missense probably damaging 1.00
PIT4280001:Tut1 UTSW 19 8959262 missense probably benign 0.00
R0014:Tut1 UTSW 19 8962447 missense possibly damaging 0.61
R0014:Tut1 UTSW 19 8962447 missense possibly damaging 0.61
R0033:Tut1 UTSW 19 8962759 missense probably benign 0.03
R0091:Tut1 UTSW 19 8965436 missense probably damaging 0.97
R0173:Tut1 UTSW 19 8965483 nonsense probably null
R0362:Tut1 UTSW 19 8955527 missense possibly damaging 0.94
R0371:Tut1 UTSW 19 8962773 missense probably damaging 0.98
R0386:Tut1 UTSW 19 8955555 missense probably benign 0.00
R1022:Tut1 UTSW 19 8959355 missense probably benign
R1024:Tut1 UTSW 19 8959355 missense probably benign
R1539:Tut1 UTSW 19 8965486 missense probably benign 0.02
R1921:Tut1 UTSW 19 8966102 missense probably benign
R1958:Tut1 UTSW 19 8959313 missense probably damaging 1.00
R2508:Tut1 UTSW 19 8955567 missense probably damaging 0.98
R4757:Tut1 UTSW 19 8959308 missense possibly damaging 0.83
R5104:Tut1 UTSW 19 8959334 missense probably benign 0.03
R5185:Tut1 UTSW 19 8955450 missense probably benign 0.07
R6999:Tut1 UTSW 19 8966018 missense probably damaging 1.00
R7084:Tut1 UTSW 19 8965414 missense probably benign
R7091:Tut1 UTSW 19 8965811 missense probably benign
R7313:Tut1 UTSW 19 8964049 missense probably benign 0.00
R7361:Tut1 UTSW 19 8965334 missense probably damaging 1.00
Posted On2014-05-07