Incidental Mutation 'R0153:Tut7'
| ID |
22861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
038436-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R0153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 59930150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 962
(R962*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071703
AA Change: R1364*
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: R1364*
| 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 |
noncoding transcript
Transcript: ENSMUST00000224320
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224480
AA Change: R962*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226102
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
97% (99/102) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,218,119 (GRCm39) |
M406V |
probably benign |
Het |
| Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,750,939 (GRCm39) |
S538T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,363 (GRCm39) |
I2803N |
possibly damaging |
Het |
| Amn1 |
G |
T |
6: 149,090,091 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,393,207 (GRCm39) |
A2246T |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,947 (GRCm39) |
E418G |
probably damaging |
Het |
| Bok |
A |
G |
1: 93,614,239 (GRCm39) |
D24G |
probably damaging |
Het |
| Cabp2 |
T |
C |
19: 4,134,913 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,995,582 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
C |
18: 22,283,492 (GRCm39) |
T13A |
probably benign |
Het |
| Ccdc42 |
G |
T |
11: 68,478,476 (GRCm39) |
V33F |
possibly damaging |
Het |
| Clcn7 |
G |
A |
17: 25,368,176 (GRCm39) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,548,176 (GRCm39) |
|
probably benign |
Het |
| Cr1l |
A |
T |
1: 194,797,164 (GRCm39) |
|
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,663,720 (GRCm39) |
V726A |
probably benign |
Het |
| Csnk1g3 |
T |
A |
18: 54,051,861 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,281 (GRCm39) |
|
probably benign |
Het |
| Dgkh |
A |
C |
14: 78,807,569 (GRCm39) |
Y1149* |
probably null |
Het |
| Dipk2a |
G |
T |
9: 94,406,533 (GRCm39) |
D291E |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,635,162 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,196,256 (GRCm39) |
V497A |
probably benign |
Het |
| Efcab2 |
A |
G |
1: 178,302,451 (GRCm39) |
E65G |
possibly damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,305,842 (GRCm39) |
D101V |
probably damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,309,198 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
T |
7: 4,773,286 (GRCm39) |
L177Q |
probably damaging |
Het |
| Gm10720 |
A |
C |
9: 3,015,787 (GRCm39) |
S44R |
probably null |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm6471 |
A |
T |
7: 142,385,368 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpm |
C |
T |
17: 33,865,489 (GRCm39) |
R724Q |
probably damaging |
Het |
| Homer1 |
C |
T |
13: 93,528,254 (GRCm39) |
T117I |
possibly damaging |
Het |
| Hoxd4 |
A |
T |
2: 74,557,801 (GRCm39) |
Q60L |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,417,968 (GRCm39) |
R1274G |
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,097,477 (GRCm39) |
S806P |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,561,016 (GRCm39) |
V627A |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,569 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Kel |
A |
T |
6: 41,678,877 (GRCm39) |
H195Q |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,582 (GRCm39) |
S122P |
possibly damaging |
Het |
| Krt71 |
T |
A |
15: 101,643,141 (GRCm39) |
I456F |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,567,339 (GRCm39) |
S37T |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,013,031 (GRCm39) |
H1858L |
possibly damaging |
Het |
| Matk |
A |
T |
10: 81,098,676 (GRCm39) |
T461S |
probably benign |
Het |
| Meikin |
A |
G |
11: 54,300,468 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,214,029 (GRCm39) |
Q2832R |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,781,324 (GRCm39) |
F194L |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,323,877 (GRCm39) |
|
probably benign |
Het |
| Nme4 |
A |
G |
17: 26,312,831 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
A |
T |
4: 118,583,530 (GRCm39) |
I29F |
possibly damaging |
Het |
| Or4c112 |
T |
A |
2: 88,853,540 (GRCm39) |
N269I |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,948 (GRCm39) |
S93P |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,233 (GRCm39) |
L63H |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,967 (GRCm39) |
V80A |
probably damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,261,862 (GRCm39) |
Q473R |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,243,288 (GRCm39) |
H427R |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,663,256 (GRCm39) |
Y367C |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,860,338 (GRCm39) |
P984L |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,750,124 (GRCm39) |
C3091* |
probably null |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,052,623 (GRCm39) |
F140L |
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,591,653 (GRCm39) |
I1014M |
probably benign |
Het |
| Serpinb11 |
A |
G |
1: 107,299,933 (GRCm39) |
H93R |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,623,872 (GRCm39) |
H286N |
probably benign |
Het |
| Sipa1l2 |
G |
T |
8: 126,148,637 (GRCm39) |
Q1651K |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,963,002 (GRCm39) |
F75L |
possibly damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,856,427 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
C |
T |
3: 88,261,179 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Taf8 |
A |
T |
17: 47,809,177 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,333,829 (GRCm39) |
D617G |
probably damaging |
Het |
| Tbc1d5 |
A |
T |
17: 51,291,715 (GRCm39) |
|
probably benign |
Het |
| Tfcp2 |
C |
G |
15: 100,412,708 (GRCm39) |
E315Q |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,147,345 (GRCm39) |
S540R |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,095,634 (GRCm39) |
Q70R |
probably benign |
Het |
| Trip13 |
G |
T |
13: 74,068,183 (GRCm39) |
A266E |
possibly damaging |
Het |
| Ttc24 |
T |
A |
3: 87,982,234 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,878,740 (GRCm39) |
I49N |
probably damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,886,711 (GRCm39) |
M250K |
possibly damaging |
Het |
| Vmn1r87 |
A |
T |
7: 12,866,211 (GRCm39) |
D25E |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,877 (GRCm39) |
Y120H |
probably benign |
Het |
| Wdr6 |
G |
A |
9: 108,452,441 (GRCm39) |
R481C |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,790,955 (GRCm39) |
Y371* |
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,811,185 (GRCm39) |
N620D |
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,154,834 (GRCm39) |
Y11N |
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 |
|
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 |
|
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'- CTGTACCTGGAGAGCCTTTGAACTG -3'
(R):5'- TCTGTAAGGACTGGGGCAACTGTG -3'
Sequencing Primer
(F):5'- GATGAAACAACGCTTTTCTCTCG -3'
(R):5'- GGCCACCTGTTACCCAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation