Incidental Mutation 'R8035:Tut7'
| ID |
618199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
067472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R8035 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59937004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1214
(N1214K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000224480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071703
AA Change: N1214K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: N1214K
| 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 benign
Transcript: ENSMUST00000224480
AA Change: N812K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,530,243 (GRCm39) |
V938A |
probably damaging |
Het |
| Acot7 |
A |
G |
4: 152,337,611 (GRCm39) |
T254A |
possibly damaging |
Het |
| Ankle2 |
C |
T |
5: 110,402,318 (GRCm39) |
R943C |
probably damaging |
Het |
| Arrdc2 |
T |
C |
8: 71,292,026 (GRCm39) |
K7R |
probably benign |
Het |
| Arsi |
T |
A |
18: 61,049,442 (GRCm39) |
H108Q |
probably damaging |
Het |
| Asap3 |
T |
C |
4: 135,968,514 (GRCm39) |
Y689H |
probably benign |
Het |
| Bnip3 |
G |
A |
7: 138,493,666 (GRCm39) |
T181I |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccdc168 |
A |
G |
1: 44,100,711 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ccdc6 |
A |
G |
10: 69,933,331 (GRCm39) |
I68V |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,829,012 (GRCm39) |
F116L |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,831,152 (GRCm39) |
V330F |
probably damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,318,350 (GRCm39) |
C155R |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,633,664 (GRCm39) |
A165V |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,470,675 (GRCm39) |
G439R |
probably damaging |
Het |
| Fam161b |
A |
T |
12: 84,395,430 (GRCm39) |
D504E |
probably damaging |
Het |
| Fdps |
G |
T |
3: 89,002,783 (GRCm39) |
P122T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,547,437 (GRCm39) |
Y1454H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,799,866 (GRCm39) |
E288G |
probably damaging |
Het |
| Gm21411 |
A |
C |
4: 146,982,167 (GRCm39) |
|
probably null |
Het |
| Hnrnpc |
C |
T |
14: 52,321,719 (GRCm39) |
D32N |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,982,859 (GRCm39) |
I239N |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,485 (GRCm39) |
N138D |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,921 (GRCm39) |
I69V |
possibly damaging |
Het |
| Itih1 |
A |
C |
14: 30,664,482 (GRCm39) |
D81E |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,781 (GRCm39) |
L624S |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,086 (GRCm39) |
M153V |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,854,302 (GRCm39) |
Y327* |
probably null |
Het |
| Lims1 |
T |
A |
10: 58,246,263 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,750,667 (GRCm39) |
I3080F |
|
Het |
| Mars2 |
C |
T |
1: 55,277,456 (GRCm39) |
T353I |
possibly damaging |
Het |
| Matn4 |
T |
C |
2: 164,238,960 (GRCm39) |
N307S |
probably damaging |
Het |
| Mettl17 |
C |
T |
14: 52,128,947 (GRCm39) |
H406Y |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,856 (GRCm39) |
M2271K |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,035,336 (GRCm39) |
E539G |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,757 (GRCm39) |
L31H |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,263 (GRCm39) |
F310L |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,490 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b38 |
C |
T |
9: 37,972,961 (GRCm39) |
T115I |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,806,109 (GRCm39) |
K1030R |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,721,311 (GRCm39) |
D119E |
probably damaging |
Het |
| Rgs9 |
A |
G |
11: 109,164,150 (GRCm39) |
I151T |
probably benign |
Het |
| Slc26a7 |
A |
C |
4: 14,621,338 (GRCm39) |
M16R |
possibly damaging |
Het |
| Slx4ip |
T |
G |
2: 136,885,945 (GRCm39) |
Y88* |
probably null |
Het |
| Sppl2c |
T |
A |
11: 104,078,192 (GRCm39) |
W331R |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,784 (GRCm39) |
S1855P |
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,053 (GRCm39) |
F285L |
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,992,450 (GRCm39) |
A76E |
probably benign |
Het |
| Trip13 |
G |
C |
13: 74,061,373 (GRCm39) |
A430G |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,770,226 (GRCm39) |
E337G |
probably damaging |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,377 (GRCm39) |
M1K |
probably null |
Het |
| Wdr72 |
T |
G |
9: 74,086,783 (GRCm39) |
|
probably benign |
Het |
| Zfp583 |
T |
C |
7: 6,319,771 (GRCm39) |
K414E |
probably damaging |
Het |
| Zfp940 |
A |
C |
7: 29,544,948 (GRCm39) |
S320A |
probably benign |
Het |
| Zfp979 |
A |
C |
4: 147,697,763 (GRCm39) |
C315W |
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 |
|
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'- GTTACTAACTACCAAGAACCAGCTG -3'
(R):5'- TGCTTCAAGAGGTAGGTGCC -3'
Sequencing Primer
(F):5'- TACCAAGAACCAGCTGACAGG -3'
(R):5'- AGATGGTCTAAGCCAGCCTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation