Incidental Mutation 'R8531:Tut7'
| ID |
659070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
068501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R8531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59937074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 1191
(I1191K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(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: I1191K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: I1191K
| 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: I789K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,622 (GRCm39) |
R1506S |
probably benign |
Het |
| Acox2 |
T |
C |
14: 8,247,960 (GRCm38) |
T441A |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,917 (GRCm39) |
E430G |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,540,439 (GRCm39) |
E690G |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,611,873 (GRCm39) |
I101V |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,903 (GRCm39) |
I493T |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,028 (GRCm39) |
M61T |
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,273,429 (GRCm39) |
Y481H |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,319 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,334,182 (GRCm39) |
V993F |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,424,066 (GRCm39) |
Q110R |
probably null |
Het |
| Dmp1 |
A |
C |
5: 104,360,269 (GRCm39) |
D315A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,591 (GRCm39) |
K3243E |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,101,449 (GRCm39) |
N648S |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,114,274 (GRCm39) |
D327N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,106 (GRCm39) |
D318G |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,163 (GRCm39) |
C118* |
probably null |
Het |
| Flad1 |
A |
C |
3: 89,310,517 (GRCm39) |
Y479D |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,929,939 (GRCm38) |
F2023S |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,531 (GRCm39) |
L189P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,779,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,468 (GRCm39) |
I123T |
probably benign |
Het |
| Ifnar1 |
T |
A |
16: 91,292,344 (GRCm39) |
C199* |
probably null |
Het |
| Lepr |
A |
T |
4: 101,622,612 (GRCm39) |
Y464F |
probably damaging |
Het |
| Mamdc4 |
G |
T |
2: 25,457,730 (GRCm39) |
Q452K |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,290,175 (GRCm39) |
|
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,034,076 (GRCm39) |
I429V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,181,074 (GRCm39) |
M1178L |
possibly damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,670 (GRCm39) |
E442G |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,612 (GRCm39) |
R82L |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,029 (GRCm39) |
M478K |
probably benign |
Het |
| Or5aq6 |
G |
T |
2: 86,923,670 (GRCm39) |
Q24K |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,693,016 (GRCm39) |
L166V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,908 (GRCm39) |
D62G |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,901,473 (GRCm39) |
R391C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,592 (GRCm39) |
Y755C |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,368 (GRCm39) |
F708I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,932 (GRCm39) |
T213S |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,601 (GRCm39) |
D395E |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,799,332 (GRCm39) |
S278P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,225,596 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
C |
G |
11: 119,365,031 (GRCm39) |
Q4563E |
probably benign |
Het |
| Rttn |
C |
A |
18: 89,131,467 (GRCm39) |
R1949S |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,788 (GRCm39) |
I140V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,115,462 (GRCm39) |
M53K |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,676,896 (GRCm39) |
D226V |
possibly damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,847 (GRCm39) |
Y459F |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,946,569 (GRCm39) |
V97A |
unknown |
Het |
| Slc26a4 |
C |
T |
12: 31,599,911 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,097,851 (GRCm39) |
Y517H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,909 (GRCm39) |
W947R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,653,239 (GRCm39) |
D167G |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,410,020 (GRCm39) |
M729K |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,538 (GRCm39) |
I37T |
possibly damaging |
Het |
| Tmem259 |
A |
G |
10: 79,813,819 (GRCm39) |
V423A |
probably damaging |
Het |
| Tmem62 |
G |
T |
2: 120,837,533 (GRCm39) |
L483F |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,031,777 (GRCm39) |
|
probably null |
Het |
| Txk |
C |
A |
5: 72,893,720 (GRCm39) |
C20F |
possibly damaging |
Het |
| Ube2w |
A |
C |
1: 16,672,542 (GRCm39) |
N46K |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,013,922 (GRCm39) |
H300L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,049,855 (GRCm39) |
H920Q |
probably benign |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,900 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,459 (GRCm39) |
I278F |
possibly damaging |
Het |
| Zfp260 |
T |
A |
7: 29,804,884 (GRCm39) |
H261Q |
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 |
|
|
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 |
|
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'- ACACTTGTGAATGCCAGTCC -3'
(R):5'- ACGCTTACACTCTTATGGTGC -3'
Sequencing Primer
(F):5'- TGAATGCCAGTCCTCATGG -3'
(R):5'- ATGGTGCTATACTTCCTCCAGCAAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation