Incidental Mutation 'R5928:Tut7'
| ID |
460040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
044123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R5928 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59969880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 5
(A5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000225179]
[ENSMUST00000225576]
[ENSMUST00000225987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071703
AA Change: A5V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: A5V
| 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: ENSMUST00000224737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225179
AA Change: A5V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225576
AA Change: A5V
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225987
AA Change: A5V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.0642 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (90/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,537,159 (GRCm39) |
I475L |
probably benign |
Het |
| Abcc2 |
C |
T |
19: 43,807,797 (GRCm39) |
R813W |
probably damaging |
Het |
| Adam34 |
T |
C |
8: 44,105,067 (GRCm39) |
T193A |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,254,531 (GRCm39) |
D1118G |
probably damaging |
Het |
| Adprh |
A |
C |
16: 38,267,746 (GRCm39) |
S180A |
probably benign |
Het |
| Atad5 |
A |
T |
11: 79,985,003 (GRCm39) |
D30V |
probably damaging |
Het |
| Best3 |
G |
A |
10: 116,843,532 (GRCm39) |
D303N |
probably damaging |
Het |
| Bmp2k |
G |
C |
5: 97,235,595 (GRCm39) |
|
probably benign |
Het |
| Btc |
A |
T |
5: 91,514,004 (GRCm39) |
V86E |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,258,659 (GRCm39) |
A582S |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,598 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,906,040 (GRCm39) |
S180T |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,047 (GRCm39) |
H547Q |
probably benign |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,654,648 (GRCm39) |
V470M |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,718,861 (GRCm39) |
V354A |
probably damaging |
Het |
| Cdhr2 |
C |
A |
13: 54,881,832 (GRCm39) |
Q1122K |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,387,692 (GRCm39) |
K1958E |
probably damaging |
Het |
| Cfap53 |
C |
T |
18: 74,492,811 (GRCm39) |
P512S |
possibly damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,659,200 (GRCm39) |
|
probably benign |
Het |
| Cibar1 |
A |
G |
4: 12,171,919 (GRCm39) |
|
probably benign |
Het |
| Clec7a |
A |
T |
6: 129,442,430 (GRCm39) |
F199Y |
probably damaging |
Het |
| Cracd |
A |
C |
5: 76,989,581 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,101,002 (GRCm39) |
K1182E |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,878,371 (GRCm39) |
|
probably null |
Het |
| Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,849,948 (GRCm39) |
M425K |
possibly damaging |
Het |
| Egfem1 |
T |
C |
3: 29,637,077 (GRCm39) |
V42A |
possibly damaging |
Het |
| Eif3e |
T |
A |
15: 43,138,728 (GRCm39) |
|
probably null |
Het |
| Exosc9 |
T |
A |
3: 36,609,774 (GRCm39) |
|
probably benign |
Het |
| Fbxw18 |
T |
A |
9: 109,529,149 (GRCm39) |
T135S |
probably damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,972,893 (GRCm39) |
E347G |
possibly damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,874 (GRCm39) |
Y292H |
probably benign |
Het |
| Gltpd2 |
C |
A |
11: 70,410,179 (GRCm39) |
Q46K |
probably benign |
Het |
| Gm6741 |
A |
G |
17: 91,544,528 (GRCm39) |
Y97C |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,732,349 (GRCm39) |
L532S |
probably damaging |
Het |
| Hdac3 |
C |
T |
18: 38,074,394 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,872,177 (GRCm39) |
F2554L |
possibly damaging |
Het |
| Hmbox1 |
T |
A |
14: 65,061,122 (GRCm39) |
H384L |
possibly damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,474,648 (GRCm39) |
D4746E |
possibly damaging |
Het |
| Il17rb |
C |
A |
14: 29,726,232 (GRCm39) |
|
probably null |
Het |
| Irak2 |
A |
T |
6: 113,653,587 (GRCm39) |
I252F |
probably damaging |
Het |
| Khnyn |
C |
T |
14: 56,123,344 (GRCm39) |
R33C |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,950,545 (GRCm39) |
P20L |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,811,721 (GRCm39) |
Y903H |
probably benign |
Het |
| Miga2 |
T |
C |
2: 30,258,875 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,888,678 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,912,996 (GRCm39) |
Y925H |
probably benign |
Het |
| Nr2c1 |
T |
G |
10: 94,024,055 (GRCm39) |
L420R |
probably damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,066 (GRCm39) |
N163S |
probably benign |
Het |
| Or5ac21 |
G |
A |
16: 59,123,521 (GRCm39) |
E2K |
probably damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,380 (GRCm39) |
S210C |
probably benign |
Het |
| Or7e166 |
A |
T |
9: 19,625,049 (GRCm39) |
T309S |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,372,373 (GRCm39) |
V234I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,485,792 (GRCm39) |
V735A |
possibly damaging |
Het |
| Plekha7 |
T |
C |
7: 115,727,809 (GRCm39) |
K85R |
probably benign |
Het |
| Pnma2 |
C |
T |
14: 67,154,323 (GRCm39) |
T249I |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,493,189 (GRCm39) |
D1057G |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,576,186 (GRCm39) |
L519H |
probably damaging |
Het |
| Ptar1 |
T |
C |
19: 23,695,277 (GRCm39) |
I248T |
probably benign |
Het |
| Ptprh |
A |
C |
7: 4,576,507 (GRCm39) |
L251R |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,980 (GRCm39) |
M206T |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,018,290 (GRCm39) |
F134I |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,286,075 (GRCm39) |
H434Q |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,216,220 (GRCm39) |
I187V |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,101,197 (GRCm39) |
I598V |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,477,204 (GRCm39) |
V85E |
probably benign |
Het |
| Tfb1m |
C |
T |
17: 3,593,422 (GRCm39) |
V166I |
probably benign |
Het |
| Tmem163 |
A |
T |
1: 127,419,383 (GRCm39) |
M274K |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,303,878 (GRCm39) |
I1343T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,386,040 (GRCm39) |
T2156A |
probably damaging |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,487 (GRCm39) |
T176S |
possibly damaging |
Het |
| Vps52 |
C |
T |
17: 34,180,100 (GRCm39) |
P268L |
possibly damaging |
Het |
| Xbp1 |
G |
A |
11: 5,473,514 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,966,272 (GRCm39) |
F169L |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,658,625 (GRCm39) |
R429G |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,803,678 (GRCm39) |
E2504G |
probably damaging |
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 |
|
|
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'- GGAAACCCCATACAGTCCTTTC -3'
(R):5'- ATGAACACTGTAACTTCTGGAATGC -3'
Sequencing Primer
(F):5'- CATACAGTCCTTTCCTGGGGG -3'
(R):5'- GCACCCGTGTGTTACTTT -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation