Incidental Mutation 'R0599:Tut7'
| ID |
55249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
038788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R0599 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59957301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 7
(V7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071703
AA Change: V409A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: V409A
| 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 damaging
Transcript: ENSMUST00000224480
AA Change: V7A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
| Meta Mutation Damage Score |
0.4554 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
98% (80/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,529,208 (GRCm39) |
L978P |
probably damaging |
Het |
| Abcb1a |
C |
T |
5: 8,748,539 (GRCm39) |
T290M |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,558,742 (GRCm39) |
F585I |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,494,200 (GRCm39) |
G1106D |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,761,038 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,870,292 (GRCm39) |
D667G |
possibly damaging |
Het |
| Ap3m2 |
G |
T |
8: 23,283,128 (GRCm39) |
A208D |
possibly damaging |
Het |
| Arhgap17 |
A |
T |
7: 122,903,013 (GRCm39) |
|
probably benign |
Het |
| Bptf |
A |
G |
11: 106,959,208 (GRCm39) |
V1838A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,043,563 (GRCm39) |
M334L |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,934,516 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,980,696 (GRCm39) |
T208K |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,055,025 (GRCm39) |
Y100C |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,878,017 (GRCm39) |
V2644M |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,856,515 (GRCm39) |
D2882G |
probably damaging |
Het |
| Eapp |
T |
A |
12: 54,732,747 (GRCm39) |
K117M |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,916,427 (GRCm39) |
V673A |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,368,117 (GRCm39) |
C754Y |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,480,956 (GRCm39) |
D33G |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,594,212 (GRCm39) |
K321E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,360,624 (GRCm39) |
R2090Q |
probably damaging |
Het |
| Gm10283 |
A |
G |
8: 60,954,258 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,650,464 (GRCm39) |
I844T |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,726,691 (GRCm39) |
D124G |
probably benign |
Het |
| Gulo |
A |
T |
14: 66,227,890 (GRCm39) |
D347E |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,485,552 (GRCm39) |
F4350S |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,712 (GRCm39) |
D473G |
probably damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,720,440 (GRCm39) |
E1026G |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,993,186 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
T |
13: 47,212,286 (GRCm39) |
D190V |
possibly damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,040 (GRCm39) |
N146K |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,122 (GRCm39) |
V85L |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,861,970 (GRCm39) |
|
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,713,994 (GRCm39) |
|
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,896,737 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
C |
5: 113,013,616 (GRCm39) |
L780R |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,283,942 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,964,522 (GRCm39) |
S705P |
probably damaging |
Het |
| Ocrl |
A |
T |
X: 47,024,963 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
T |
11: 73,778,730 (GRCm39) |
M156K |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,545 (GRCm39) |
F141S |
probably benign |
Het |
| Or51k1 |
A |
T |
7: 103,661,395 (GRCm39) |
C171* |
probably null |
Het |
| Or52ab4 |
A |
G |
7: 102,987,393 (GRCm39) |
N44S |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,528,049 (GRCm39) |
K1931N |
probably damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,349 (GRCm39) |
S118G |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,268 (GRCm39) |
Q58L |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,897 (GRCm39) |
E38G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,396 (GRCm39) |
Y1164N |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,031,628 (GRCm39) |
I83T |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,357,143 (GRCm39) |
K1053Q |
probably damaging |
Het |
| Sgsm1 |
G |
T |
5: 113,392,894 (GRCm39) |
Q1087K |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 40,017,914 (GRCm39) |
D40G |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,689,885 (GRCm39) |
D117G |
probably damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,637,487 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
A |
G |
11: 102,248,741 (GRCm39) |
|
probably benign |
Het |
| Smarca1 |
T |
A |
X: 46,912,303 (GRCm39) |
Q982L |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,608,831 (GRCm39) |
I320N |
possibly damaging |
Het |
| Stx8 |
A |
T |
11: 68,000,188 (GRCm39) |
R209S |
probably null |
Het |
| Sulf2 |
T |
C |
2: 165,925,799 (GRCm39) |
T453A |
possibly damaging |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
A |
11: 35,915,607 (GRCm39) |
I1976F |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,730,745 (GRCm39) |
S1341L |
probably damaging |
Het |
| Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,147,506 (GRCm39) |
K30E |
probably damaging |
Het |
| Tmem225 |
A |
G |
9: 40,061,043 (GRCm39) |
I117V |
possibly damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,233,264 (GRCm39) |
N152Y |
possibly damaging |
Het |
| Top2a |
A |
G |
11: 98,892,243 (GRCm39) |
I1073T |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,695,256 (GRCm39) |
Y296* |
probably null |
Het |
| Tubg1 |
T |
C |
11: 101,016,162 (GRCm39) |
M377T |
probably benign |
Het |
| Vmn1r35 |
G |
A |
6: 66,656,497 (GRCm39) |
H58Y |
probably benign |
Het |
| Vmn1r56 |
G |
A |
7: 5,199,429 (GRCm39) |
H63Y |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,615,189 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,603 (GRCm39) |
S303P |
possibly damaging |
Het |
| Wdr49 |
C |
T |
3: 75,338,383 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
T |
C |
3: 75,357,197 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,804,004 (GRCm39) |
L2582P |
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 |
|
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'- ACAAATCAAGAACAaggaggaggaggaa -3'
(R):5'- GCTCTGCTGACTCGTCATTAAGCAAA -3'
Sequencing Primer
(F):5'- ggaggaggaggaagaggaag -3'
(R):5'- ttgattcccagcacccac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation