Incidental Mutation 'R7727:Tut7'
ID |
595579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut7
|
Ensembl Gene |
ENSMUSG00000035248 |
Gene Name |
terminal uridylyl transferase 7 |
Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
MMRRC Submission |
045783-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R7727 (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 59947496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 942
(F942L)
|
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: F942L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000071623 Gene: ENSMUSG00000035248 AA Change: F942L
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: F540L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
Meta Mutation Damage Score |
0.0726 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
T |
16: 85,696,854 (GRCm39) |
L101Q |
probably damaging |
Het |
Arhgap18 |
A |
T |
10: 26,746,007 (GRCm39) |
I293F |
possibly damaging |
Het |
Atp8b1 |
T |
A |
18: 64,678,346 (GRCm39) |
Q850L |
probably damaging |
Het |
B4galnt3 |
A |
T |
6: 120,202,148 (GRCm39) |
F118Y |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,790,163 (GRCm39) |
|
probably null |
Het |
Cc2d2b |
T |
A |
19: 40,744,974 (GRCm39) |
L31Q |
probably benign |
Het |
Cd5l |
G |
T |
3: 87,275,162 (GRCm39) |
E234* |
probably null |
Het |
Cemip2 |
C |
T |
19: 21,807,321 (GRCm39) |
L917F |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,965,784 (GRCm39) |
T409A |
probably benign |
Het |
Chst5 |
A |
T |
8: 112,617,557 (GRCm39) |
I21N |
probably benign |
Het |
Cldn20 |
T |
C |
17: 3,583,030 (GRCm39) |
Y68H |
probably benign |
Het |
Col4a4 |
T |
C |
1: 82,506,514 (GRCm39) |
M269V |
unknown |
Het |
Dgkh |
A |
G |
14: 78,832,585 (GRCm39) |
|
probably null |
Het |
Dpp6 |
A |
G |
5: 27,656,242 (GRCm39) |
T166A |
probably benign |
Het |
Drosha |
A |
G |
15: 12,881,731 (GRCm39) |
D754G |
probably damaging |
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Fsd1 |
T |
G |
17: 56,295,150 (GRCm39) |
D46E |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,024,418 (GRCm39) |
D419G |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,377,770 (GRCm39) |
D458E |
probably damaging |
Het |
Grm6 |
C |
A |
11: 50,742,369 (GRCm39) |
A134E |
probably benign |
Het |
Ikzf1 |
T |
A |
11: 11,698,339 (GRCm39) |
S63R |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,412,500 (GRCm39) |
V74I |
probably benign |
Het |
Kcng2 |
C |
T |
18: 80,339,305 (GRCm39) |
V328M |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,941,855 (GRCm39) |
E145G |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,357,448 (GRCm39) |
V428A |
probably damaging |
Het |
Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,084,375 (GRCm39) |
S113G |
probably benign |
Het |
Mboat1 |
A |
C |
13: 30,410,289 (GRCm39) |
M249L |
probably benign |
Het |
Meltf |
T |
C |
16: 31,702,612 (GRCm39) |
V113A |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,571,538 (GRCm39) |
H327L |
unknown |
Het |
Myh1 |
A |
G |
11: 67,106,748 (GRCm39) |
I1277V |
probably benign |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Naga |
C |
A |
15: 82,214,348 (GRCm39) |
V388L |
probably benign |
Het |
Nfkb1 |
A |
C |
3: 135,291,162 (GRCm39) |
M957R |
possibly damaging |
Het |
Nol12 |
C |
A |
15: 78,824,793 (GRCm39) |
S157* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,911,368 (GRCm39) |
V142A |
possibly damaging |
Het |
Or5g23 |
A |
G |
2: 85,438,751 (GRCm39) |
F168L |
possibly damaging |
Het |
Or8u3-ps |
A |
T |
2: 85,952,840 (GRCm39) |
D191V |
possibly damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,098 (GRCm39) |
V182A |
probably benign |
Het |
Pik3r4 |
A |
G |
9: 105,547,081 (GRCm39) |
E953G |
probably damaging |
Het |
Piwil2 |
C |
T |
14: 70,631,506 (GRCm39) |
R646Q |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,779,971 (GRCm39) |
H157R |
probably damaging |
Het |
Prrg4 |
A |
T |
2: 104,669,723 (GRCm39) |
F131L |
probably benign |
Het |
Prss3b |
C |
A |
6: 41,010,127 (GRCm39) |
R69L |
probably benign |
Het |
Rab28 |
A |
G |
5: 41,865,313 (GRCm39) |
S4P |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,291,260 (GRCm39) |
Q209K |
probably benign |
Het |
Schip1 |
G |
A |
3: 67,972,317 (GRCm39) |
D15N |
probably benign |
Het |
Serpina3f |
T |
G |
12: 104,184,477 (GRCm39) |
M207R |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,422,193 (GRCm39) |
M487K |
possibly damaging |
Het |
Sh3tc2 |
A |
T |
18: 62,122,651 (GRCm39) |
I471F |
probably benign |
Het |
Slamf1 |
G |
A |
1: 171,602,467 (GRCm39) |
V65I |
possibly damaging |
Het |
Slit3 |
T |
C |
11: 35,574,871 (GRCm39) |
C1062R |
probably damaging |
Het |
Snapc4 |
T |
G |
2: 26,263,446 (GRCm39) |
K344N |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,895,822 (GRCm39) |
Y1778H |
probably damaging |
Het |
Spon2 |
G |
A |
5: 33,373,019 (GRCm39) |
R228C |
probably damaging |
Het |
Sv2c |
A |
G |
13: 96,113,203 (GRCm39) |
I582T |
possibly damaging |
Het |
Tamm41 |
C |
T |
6: 114,993,139 (GRCm39) |
V205M |
probably damaging |
Het |
Trpm2 |
T |
C |
10: 77,761,623 (GRCm39) |
D1009G |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,831,613 (GRCm39) |
S1493P |
probably damaging |
Het |
Ttc34 |
G |
A |
4: 154,923,731 (GRCm39) |
V147I |
possibly damaging |
Het |
Uba2 |
C |
T |
7: 33,850,275 (GRCm39) |
A393T |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,440,873 (GRCm39) |
N416K |
probably benign |
Het |
Uevld |
T |
C |
7: 46,593,553 (GRCm39) |
N233S |
probably benign |
Het |
Upp2 |
G |
A |
2: 58,664,160 (GRCm39) |
M142I |
possibly damaging |
Het |
Vps52 |
T |
A |
17: 34,181,108 (GRCm39) |
V450D |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,378,873 (GRCm39) |
F118Y |
probably damaging |
Het |
Zfp110 |
T |
A |
7: 12,582,922 (GRCm39) |
D523E |
possibly damaging |
Het |
Zfp367 |
A |
T |
13: 64,293,457 (GRCm39) |
V143D |
probably damaging |
Het |
Zfp950 |
T |
C |
19: 61,108,379 (GRCm39) |
I235V |
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 |
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 |
R8929:Tut7
|
UTSW |
13 |
59,947,942 (GRCm39) |
missense |
probably benign |
|
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'- GAAGCTACTGGTCCAGTTCATAG -3'
(R):5'- TCAGGTGGACAGCAGGTATG -3'
Sequencing Primer
(F):5'- GAGACCTCAGTTCAATTCCTGGGAC -3'
(R):5'- CAGGTATGCTGGGTCAGGTGAG -3'
|
Posted On |
2019-11-12 |