Incidental Mutation 'R0014:Tut1'
| ID |
7934 |
| 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 |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.455)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8931211-8943574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8939811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 265
(L265Q)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000096239
AA Change: L265Q
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
AA Change: L265Q
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1795 |
| Coding Region Coverage |
- 1x: 75.1%
- 3x: 61.1%
- 10x: 30.7%
- 20x: 14.1%
|
| Validation Efficiency |
90% (62/69) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
C |
T |
12: 21,386,645 (GRCm39) |
E445K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,250,547 (GRCm39) |
V399A |
possibly damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,568,712 (GRCm39) |
C10* |
probably null |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Dpyd |
T |
C |
3: 118,935,584 (GRCm39) |
S670P |
probably damaging |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| Exog |
T |
C |
9: 119,281,344 (GRCm39) |
I218T |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,603 (GRCm39) |
Y108* |
probably null |
Het |
| Fhad1 |
A |
T |
4: 141,655,719 (GRCm39) |
L795Q |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,168 (GRCm39) |
D347G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,684 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
A |
C |
2: 155,279,963 (GRCm39) |
S18A |
possibly damaging |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nek6 |
T |
C |
2: 38,448,856 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
G |
3: 94,906,208 (GRCm39) |
I612S |
probably damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,148 (GRCm39) |
S193A |
possibly damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
|
| Other mutations in Tut1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2012-11-20 |
Incidental Mutation