Incidental Mutation 'R1662:Tut7'
| ID |
186872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
039698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R1662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59947717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 466
(E466G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071703
AA Change: E868G
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: E868G
| 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 |
possibly damaging
Transcript: ENSMUST00000224480
AA Change: E466G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225944
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
T |
A |
4: 126,505,475 (GRCm39) |
M1K |
probably null |
Het |
| 5730507C01Rik |
A |
C |
12: 18,581,967 (GRCm39) |
R119S |
possibly damaging |
Het |
| Abca1 |
T |
A |
4: 53,090,251 (GRCm39) |
|
probably null |
Het |
| Aff1 |
G |
A |
5: 103,988,923 (GRCm39) |
G830D |
probably damaging |
Het |
| AI987944 |
T |
C |
7: 41,023,873 (GRCm39) |
T369A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,283 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
C |
G |
2: 158,381,190 (GRCm39) |
C349W |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
| Barhl2 |
A |
T |
5: 106,601,365 (GRCm39) |
M338K |
probably benign |
Het |
| Btd |
T |
C |
14: 31,388,747 (GRCm39) |
V156A |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,874,552 (GRCm39) |
K140E |
unknown |
Het |
| Ccdc82 |
T |
C |
9: 13,262,397 (GRCm39) |
V319A |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,263 (GRCm39) |
N903K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,389,968 (GRCm39) |
N1288I |
probably damaging |
Het |
| Ciao1 |
G |
A |
2: 127,086,857 (GRCm39) |
T252I |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,573 (GRCm39) |
C87R |
probably damaging |
Het |
| Cops7a |
T |
A |
6: 124,939,401 (GRCm39) |
R83W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,613 (GRCm39) |
M205L |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,553,409 (GRCm39) |
L749P |
probably benign |
Het |
| Dync1i2 |
C |
T |
2: 71,081,323 (GRCm39) |
T484I |
possibly damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,455 (GRCm39) |
K742N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,506,094 (GRCm39) |
T138A |
probably benign |
Het |
| F5 |
T |
C |
1: 164,035,457 (GRCm39) |
I1877T |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,406,201 (GRCm39) |
V984G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,928 (GRCm39) |
V2860D |
probably damaging |
Het |
| Foxn4 |
C |
T |
5: 114,394,955 (GRCm39) |
R324Q |
probably benign |
Het |
| Gapdhs |
C |
T |
7: 30,436,427 (GRCm39) |
R120H |
probably damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,659 (GRCm39) |
D303G |
probably benign |
Het |
| Gng11 |
A |
T |
6: 4,008,066 (GRCm39) |
Y43F |
probably benign |
Het |
| Hectd4 |
A |
C |
5: 121,455,308 (GRCm39) |
M651L |
probably benign |
Het |
| Ifngr2 |
T |
A |
16: 91,357,484 (GRCm39) |
Y200N |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,005,708 (GRCm39) |
V512A |
probably benign |
Het |
| Kdm2a |
A |
C |
19: 4,378,240 (GRCm39) |
D187E |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,019,911 (GRCm39) |
V370A |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,747,967 (GRCm39) |
|
probably benign |
Het |
| Krt12 |
C |
A |
11: 99,311,650 (GRCm39) |
V184F |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,754,623 (GRCm39) |
I133F |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
G |
2: 121,136,889 (GRCm39) |
S2568R |
possibly damaging |
Het |
| Mbnl1 |
C |
A |
3: 60,532,593 (GRCm39) |
Q301K |
probably damaging |
Het |
| Med12l |
A |
T |
3: 59,001,038 (GRCm39) |
K724N |
probably damaging |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Mybph |
C |
T |
1: 134,121,374 (GRCm39) |
P45S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,392,527 (GRCm39) |
S2157T |
probably damaging |
Het |
| Or14j2 |
G |
T |
17: 37,886,164 (GRCm39) |
T50K |
probably damaging |
Het |
| Or1ab2 |
T |
C |
8: 72,863,623 (GRCm39) |
V71A |
probably benign |
Het |
| Or2t35 |
T |
A |
14: 14,407,880 (GRCm38) |
Y217* |
probably null |
Het |
| Or5h25 |
T |
C |
16: 58,930,967 (GRCm39) |
E2G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,634,218 (GRCm39) |
I1419T |
possibly damaging |
Het |
| Ovol1 |
A |
T |
19: 5,601,667 (GRCm39) |
F118L |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,958,680 (GRCm39) |
D136G |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,250 (GRCm39) |
Y417C |
probably damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,254,052 (GRCm39) |
N372S |
probably benign |
Het |
| Prss30 |
G |
T |
17: 24,191,806 (GRCm39) |
N238K |
possibly damaging |
Het |
| Prss33 |
C |
A |
17: 24,053,785 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
T |
C |
1: 119,692,788 (GRCm39) |
E187G |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,207,357 (GRCm38) |
N100I |
probably damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,558,324 (GRCm39) |
V130A |
probably benign |
Het |
| Rdh7 |
A |
T |
10: 127,724,481 (GRCm39) |
M1K |
probably null |
Het |
| Rtp3 |
A |
C |
9: 110,815,751 (GRCm39) |
S205A |
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,539,618 (GRCm39) |
D3207E |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,313,803 (GRCm39) |
T1972S |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,551 (GRCm39) |
V122A |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,686,043 (GRCm39) |
L213S |
probably damaging |
Het |
| Slc27a5 |
T |
A |
7: 12,725,173 (GRCm39) |
I425F |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,442 (GRCm39) |
D530G |
probably benign |
Het |
| Tcf25 |
T |
A |
8: 124,108,289 (GRCm39) |
S115T |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,613 (GRCm39) |
L1883P |
possibly damaging |
Het |
| Trim21 |
T |
A |
7: 102,211,105 (GRCm39) |
R205* |
probably null |
Het |
| Ttc23 |
G |
T |
7: 67,375,069 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,959,499 (GRCm39) |
K658R |
probably null |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,572 (GRCm39) |
F305L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,551 (GRCm39) |
C677S |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,240,300 (GRCm39) |
M150T |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,981 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,343,408 (GRCm39) |
R596* |
probably null |
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 |
|
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'- TGGTCCCCAGGTAAATCTTCCTCAG -3'
(R):5'- AGCTGTGCCTCTTTGGACAACAAG -3'
Sequencing Primer
(F):5'- AGGTAAATCTTCCTCAGGAAAGC -3'
(R):5'- CTCTTTGGACAACAAGGCTGAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation