Incidental Mutation 'R8929:Tut7'
ID |
679763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut7
|
Ensembl Gene |
ENSMUSG00000035248 |
Gene Name |
terminal uridylyl transferase 7 |
Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
MMRRC Submission |
068773-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.796)
|
Stock # |
R8929 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59947942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 793
(V793A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071703
AA Change: V793A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071623 Gene: ENSMUSG00000035248 AA Change: V793A
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
low complexity region
|
176 |
190 |
N/A |
INTRINSIC |
ZnF_C2H2
|
244 |
268 |
2.61e1 |
SMART |
SCOP:d1f5aa2
|
284 |
497 |
4e-25 |
SMART |
low complexity region
|
522 |
534 |
N/A |
INTRINSIC |
Pfam:PAP_assoc
|
550 |
603 |
6.7e-14 |
PFAM |
low complexity region
|
811 |
825 |
N/A |
INTRINSIC |
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
low complexity region
|
882 |
898 |
N/A |
INTRINSIC |
ZnF_C2HC
|
960 |
976 |
3.3e-3 |
SMART |
Pfam:NTP_transf_2
|
1022 |
1134 |
4e-8 |
PFAM |
Pfam:PAP_assoc
|
1229 |
1282 |
1.7e-17 |
PFAM |
ZnF_C2HC
|
1342 |
1358 |
2.09e-3 |
SMART |
Pfam:TUTF7_u4
|
1359 |
1446 |
1.6e-42 |
PFAM |
ZnF_C2HC
|
1448 |
1464 |
1.06e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224480
AA Change: V391A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrm1 |
A |
G |
2: 179,814,730 (GRCm39) |
K99E |
unknown |
Het |
Agxt2 |
C |
A |
15: 10,393,830 (GRCm39) |
L375I |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,258,752 (GRCm39) |
S459P |
probably benign |
Het |
Arfgef3 |
T |
A |
10: 18,479,203 (GRCm39) |
T1471S |
probably damaging |
Het |
Atxn2l |
C |
G |
7: 126,092,928 (GRCm39) |
|
probably benign |
Het |
Azi2 |
C |
A |
9: 117,879,044 (GRCm39) |
T141K |
probably damaging |
Het |
B4galt6 |
A |
G |
18: 20,821,422 (GRCm39) |
S369P |
possibly damaging |
Het |
BC051019 |
C |
T |
7: 109,315,233 (GRCm39) |
E341K |
probably damaging |
Het |
Bdh1 |
G |
A |
16: 31,275,712 (GRCm39) |
D278N |
probably benign |
Het |
Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
Cdipt |
T |
G |
7: 126,578,825 (GRCm39) |
D205E |
probably damaging |
Het |
Clec4b1 |
G |
T |
6: 123,046,728 (GRCm39) |
|
probably null |
Het |
Clip4 |
T |
C |
17: 72,138,203 (GRCm39) |
L467S |
probably damaging |
Het |
Cndp2 |
A |
G |
18: 84,693,298 (GRCm39) |
I154T |
probably benign |
Het |
Cyp2j5 |
T |
C |
4: 96,546,977 (GRCm39) |
N179S |
possibly damaging |
Het |
Dpf1 |
A |
T |
7: 29,009,174 (GRCm39) |
I100F |
probably benign |
Het |
Dppa5a |
A |
G |
9: 78,275,165 (GRCm39) |
S46P |
probably benign |
Het |
Epyc |
A |
G |
10: 97,511,607 (GRCm39) |
D200G |
probably benign |
Het |
Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
Fndc3b |
C |
T |
3: 27,596,253 (GRCm39) |
S112N |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,917,366 (GRCm39) |
V3462A |
probably damaging |
Het |
Fstl5 |
T |
C |
3: 76,615,138 (GRCm39) |
I733T |
probably damaging |
Het |
Gdf3 |
C |
T |
6: 122,586,756 (GRCm39) |
R57Q |
|
Het |
Grwd1 |
A |
T |
7: 45,480,056 (GRCm39) |
D50E |
probably damaging |
Het |
Hgf |
G |
T |
5: 16,798,988 (GRCm39) |
D339Y |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,196,982 (GRCm39) |
D19G |
probably damaging |
Het |
Lefty1 |
A |
G |
1: 180,765,290 (GRCm39) |
E286G |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,893,819 (GRCm39) |
F507L |
probably damaging |
Het |
Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
Metap1 |
T |
C |
3: 138,174,643 (GRCm39) |
K247E |
probably benign |
Het |
Muc4 |
T |
G |
16: 32,575,285 (GRCm39) |
I1290S |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,754,017 (GRCm38) |
T1298S |
possibly damaging |
Het |
Nars1 |
G |
T |
18: 64,644,895 (GRCm39) |
H82Q |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,415,983 (GRCm39) |
E1121V |
probably damaging |
Het |
Nebl |
C |
A |
2: 17,397,991 (GRCm39) |
E481* |
probably null |
Het |
Pdap1 |
T |
C |
5: 145,069,672 (GRCm39) |
E111G |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,643,379 (GRCm39) |
F67S |
probably damaging |
Het |
Pole |
T |
C |
5: 110,445,654 (GRCm39) |
F510S |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,655,396 (GRCm39) |
Y524N |
probably damaging |
Het |
Ptpn4 |
A |
T |
1: 119,595,278 (GRCm39) |
M887K |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,803,507 (GRCm39) |
D414G |
possibly damaging |
Het |
Sema5b |
C |
A |
16: 35,467,737 (GRCm39) |
|
probably benign |
Het |
Slain1 |
A |
T |
14: 103,923,164 (GRCm39) |
T252S |
probably damaging |
Het |
Slc36a3 |
A |
G |
11: 55,028,137 (GRCm39) |
F164S |
probably damaging |
Het |
Slc39a7 |
T |
C |
17: 34,249,964 (GRCm39) |
H90R |
unknown |
Het |
Slc44a4 |
A |
T |
17: 35,136,508 (GRCm39) |
D58V |
probably damaging |
Het |
Slc5a4a |
A |
G |
10: 76,006,617 (GRCm39) |
T340A |
probably benign |
Het |
Sod2 |
C |
A |
17: 13,233,974 (GRCm39) |
N195K |
probably damaging |
Het |
Spart |
T |
C |
3: 55,035,979 (GRCm39) |
S572P |
possibly damaging |
Het |
Sytl2 |
C |
T |
7: 90,024,810 (GRCm39) |
A266V |
probably benign |
Het |
Tbx15 |
T |
A |
3: 99,222,219 (GRCm39) |
D227E |
probably damaging |
Het |
Tfap2a |
A |
G |
13: 40,882,308 (GRCm39) |
V26A |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,208,003 (GRCm39) |
F1749L |
possibly damaging |
Het |
Trpc6 |
A |
G |
9: 8,643,411 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,706,924 (GRCm39) |
I9089N |
unknown |
Het |
Unc13a |
T |
C |
8: 72,103,835 (GRCm39) |
T866A |
probably benign |
Het |
Vmn1r212 |
T |
A |
13: 23,067,494 (GRCm39) |
S280C |
possibly damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,232,541 (GRCm39) |
T847A |
probably benign |
Het |
Zer1 |
A |
G |
2: 30,000,881 (GRCm39) |
L180P |
probably damaging |
Het |
Zfp445 |
T |
G |
9: 122,682,732 (GRCm39) |
Y403S |
probably benign |
Het |
|
Other mutations in Tut7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Tut7
|
APN |
13 |
59,964,512 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01361:Tut7
|
APN |
13 |
59,933,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Tut7
|
APN |
13 |
59,929,910 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02015:Tut7
|
APN |
13 |
59,937,072 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Tut7
|
APN |
13 |
59,932,702 (GRCm39) |
unclassified |
probably benign |
|
IGL02216:Tut7
|
APN |
13 |
59,948,237 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02705:Tut7
|
APN |
13 |
59,937,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02742:Tut7
|
APN |
13 |
59,964,156 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02810:Tut7
|
APN |
13 |
59,929,830 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02942:Tut7
|
APN |
13 |
59,959,335 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03104:Tut7
|
APN |
13 |
59,962,717 (GRCm39) |
missense |
probably benign |
0.04 |
R0025:Tut7
|
UTSW |
13 |
59,953,142 (GRCm39) |
missense |
probably benign |
0.08 |
R0025:Tut7
|
UTSW |
13 |
59,953,142 (GRCm39) |
missense |
probably benign |
0.08 |
R0153:Tut7
|
UTSW |
13 |
59,930,150 (GRCm39) |
nonsense |
probably null |
|
R0269:Tut7
|
UTSW |
13 |
59,964,669 (GRCm39) |
splice site |
probably null |
|
R0358:Tut7
|
UTSW |
13 |
59,929,918 (GRCm39) |
missense |
probably damaging |
0.99 |
R0555:Tut7
|
UTSW |
13 |
59,948,131 (GRCm39) |
missense |
probably benign |
0.00 |
R0599:Tut7
|
UTSW |
13 |
59,957,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0609:Tut7
|
UTSW |
13 |
59,947,596 (GRCm39) |
nonsense |
probably null |
|
R0617:Tut7
|
UTSW |
13 |
59,964,669 (GRCm39) |
splice site |
probably null |
|
R0680:Tut7
|
UTSW |
13 |
59,948,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0699:Tut7
|
UTSW |
13 |
59,929,828 (GRCm39) |
splice site |
probably benign |
|
R1214:Tut7
|
UTSW |
13 |
59,953,140 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1271:Tut7
|
UTSW |
13 |
59,969,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R1556:Tut7
|
UTSW |
13 |
59,948,054 (GRCm39) |
missense |
probably benign |
0.02 |
R1662:Tut7
|
UTSW |
13 |
59,947,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1777:Tut7
|
UTSW |
13 |
59,939,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Tut7
|
UTSW |
13 |
59,962,749 (GRCm39) |
nonsense |
probably null |
|
R1928:Tut7
|
UTSW |
13 |
59,964,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Tut7
|
UTSW |
13 |
59,959,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R2045:Tut7
|
UTSW |
13 |
59,948,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R2336:Tut7
|
UTSW |
13 |
59,946,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R3764:Tut7
|
UTSW |
13 |
59,948,194 (GRCm39) |
missense |
probably damaging |
0.98 |
R3899:Tut7
|
UTSW |
13 |
59,937,069 (GRCm39) |
nonsense |
probably null |
|
R3918:Tut7
|
UTSW |
13 |
59,929,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4423:Tut7
|
UTSW |
13 |
59,969,863 (GRCm39) |
missense |
probably damaging |
0.96 |
R4664:Tut7
|
UTSW |
13 |
59,948,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4673:Tut7
|
UTSW |
13 |
59,944,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Tut7
|
UTSW |
13 |
59,920,698 (GRCm39) |
unclassified |
probably benign |
|
R4884:Tut7
|
UTSW |
13 |
59,937,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Tut7
|
UTSW |
13 |
59,964,470 (GRCm39) |
critical splice donor site |
probably null |
|
R5337:Tut7
|
UTSW |
13 |
59,939,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Tut7
|
UTSW |
13 |
59,937,660 (GRCm39) |
critical splice donor site |
probably null |
|
R5452:Tut7
|
UTSW |
13 |
59,948,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Tut7
|
UTSW |
13 |
59,936,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Tut7
|
UTSW |
13 |
59,936,443 (GRCm39) |
nonsense |
probably null |
|
R5928:Tut7
|
UTSW |
13 |
59,969,880 (GRCm39) |
missense |
probably benign |
0.16 |
R5994:Tut7
|
UTSW |
13 |
59,937,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R6415:Tut7
|
UTSW |
13 |
59,964,110 (GRCm39) |
splice site |
probably null |
|
R6495:Tut7
|
UTSW |
13 |
59,947,753 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6577:Tut7
|
UTSW |
13 |
59,955,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Tut7
|
UTSW |
13 |
59,936,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Tut7
|
UTSW |
13 |
59,969,463 (GRCm39) |
missense |
probably benign |
0.18 |
R7355:Tut7
|
UTSW |
13 |
59,969,616 (GRCm39) |
missense |
probably benign |
0.00 |
R7369:Tut7
|
UTSW |
13 |
59,929,867 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7455:Tut7
|
UTSW |
13 |
59,969,871 (GRCm39) |
missense |
probably benign |
0.03 |
R7557:Tut7
|
UTSW |
13 |
59,936,280 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7635:Tut7
|
UTSW |
13 |
59,947,904 (GRCm39) |
missense |
probably benign |
0.03 |
R7727:Tut7
|
UTSW |
13 |
59,947,496 (GRCm39) |
missense |
probably benign |
0.00 |
R7798:Tut7
|
UTSW |
13 |
59,963,389 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7912:Tut7
|
UTSW |
13 |
59,946,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7915:Tut7
|
UTSW |
13 |
59,932,628 (GRCm39) |
missense |
probably benign |
0.12 |
R8035:Tut7
|
UTSW |
13 |
59,937,004 (GRCm39) |
missense |
probably benign |
0.00 |
R8531:Tut7
|
UTSW |
13 |
59,937,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Tut7
|
UTSW |
13 |
59,933,597 (GRCm39) |
missense |
probably benign |
0.15 |
R8777-TAIL:Tut7
|
UTSW |
13 |
59,933,597 (GRCm39) |
missense |
probably benign |
0.15 |
R8850:Tut7
|
UTSW |
13 |
59,937,011 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9254:Tut7
|
UTSW |
13 |
59,936,288 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9313:Tut7
|
UTSW |
13 |
59,947,798 (GRCm39) |
missense |
probably benign |
0.01 |
R9373:Tut7
|
UTSW |
13 |
59,944,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Tut7
|
UTSW |
13 |
59,936,288 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9404:Tut7
|
UTSW |
13 |
59,947,701 (GRCm39) |
missense |
probably benign |
0.00 |
R9461:Tut7
|
UTSW |
13 |
59,963,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Tut7
|
UTSW |
13 |
59,929,957 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9661:Tut7
|
UTSW |
13 |
59,937,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTAATGCTGAGCCTGGG -3'
(R):5'- AGACAGGAGGTGTGCACATC -3'
Sequencing Primer
(F):5'- GCCTGGGCTCCTCTTCC -3'
(R):5'- TCCAGGCAGAGGTCAGTTG -3'
|
Posted On |
2021-08-02 |