Incidental Mutation 'R8850:Tut7'
| ID |
674961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
068673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R8850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59937011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1212
(Q1212L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071623
(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: Q1212L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: Q1212L
| 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: Q810L
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1693 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
G |
A |
12: 70,989,032 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
A |
G |
5: 129,219,574 (GRCm39) |
K465E |
probably benign |
Het |
| Aktip |
A |
T |
8: 91,853,402 (GRCm39) |
V105E |
probably benign |
Het |
| Ankrd7 |
A |
G |
6: 18,870,006 (GRCm39) |
Y253C |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,041 (GRCm39) |
M440T |
unknown |
Het |
| Camk2b |
T |
A |
11: 5,922,838 (GRCm39) |
N426Y |
probably damaging |
Het |
| Ccdc82 |
T |
A |
9: 13,289,706 (GRCm39) |
Y500* |
probably null |
Het |
| Cenpe |
T |
A |
3: 134,930,777 (GRCm39) |
D341E |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,428 (GRCm39) |
M227K |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,692,134 (GRCm39) |
V967I |
unknown |
Het |
| Dnmt3b |
A |
T |
2: 153,515,933 (GRCm39) |
N447Y |
probably benign |
Het |
| Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
| Dtymk |
A |
C |
1: 93,729,543 (GRCm39) |
S3A |
probably benign |
Het |
| Eefsec |
G |
A |
6: 88,423,253 (GRCm39) |
T70M |
possibly damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,221,344 (GRCm39) |
T270M |
probably damaging |
Het |
| Gm17728 |
T |
C |
17: 9,641,159 (GRCm39) |
S90P |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,359,053 (GRCm39) |
L213P |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,109,188 (GRCm39) |
I1024V |
probably benign |
Het |
| Hr |
C |
T |
14: 70,799,305 (GRCm39) |
R597* |
probably null |
Het |
| Ifit3 |
T |
C |
19: 34,564,988 (GRCm39) |
I178T |
probably damaging |
Het |
| Ifna6 |
A |
G |
4: 88,746,222 (GRCm39) |
*190W |
probably null |
Het |
| Igkv4-55 |
A |
T |
6: 69,584,315 (GRCm39) |
M99K |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,877,056 (GRCm39) |
I53N |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,580,692 (GRCm39) |
H7R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,393,481 (GRCm39) |
P648L |
|
Het |
| Mast4 |
G |
T |
13: 102,895,174 (GRCm39) |
P975H |
probably damaging |
Het |
| Mfrp |
C |
T |
9: 44,013,807 (GRCm39) |
L106F |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,201,469 (GRCm39) |
S652T |
probably benign |
Het |
| Mroh8 |
C |
A |
2: 157,083,673 (GRCm39) |
G400W |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,788 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
A |
C |
5: 34,817,352 (GRCm39) |
V13G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,217,576 (GRCm39) |
L837Q |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,092,905 (GRCm39) |
N76K |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,572 (GRCm39) |
T101S |
probably benign |
Het |
| Or7g30 |
T |
C |
9: 19,352,817 (GRCm39) |
S203P |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,302 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,391 (GRCm39) |
Y16C |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,226,793 (GRCm39) |
V185E |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,047,333 (GRCm39) |
A247D |
probably damaging |
Het |
| Pla2g10 |
A |
T |
16: 13,545,914 (GRCm39) |
V40D |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,811 (GRCm39) |
G37R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,166,439 (GRCm39) |
E826G |
possibly damaging |
Het |
| Poc5 |
G |
T |
13: 96,535,228 (GRCm39) |
K164N |
possibly damaging |
Het |
| Polr2b |
A |
T |
5: 77,463,761 (GRCm39) |
M53L |
probably benign |
Het |
| Ppp1r10 |
C |
T |
17: 36,239,690 (GRCm39) |
P470S |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,645,840 (GRCm39) |
S510P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,722,658 (GRCm39) |
L1073Q |
probably damaging |
Het |
| Rpl13a-ps1 |
C |
T |
19: 50,018,739 (GRCm39) |
G146R |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,518,730 (GRCm39) |
D368G |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,634,248 (GRCm39) |
S86C |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,405 (GRCm39) |
H460R |
probably damaging |
Het |
| Steap1 |
T |
A |
5: 5,790,838 (GRCm39) |
M37L |
probably benign |
Het |
| Themis |
G |
T |
10: 28,673,492 (GRCm39) |
C593F |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,937,814 (GRCm39) |
|
probably null |
Het |
| Trabd |
G |
T |
15: 88,969,667 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,248,047 (GRCm39) |
K216N |
probably damaging |
Het |
| Trmt44 |
G |
A |
5: 35,721,673 (GRCm39) |
P497S |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,256,475 (GRCm39) |
Y15C |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,652,100 (GRCm39) |
I1458L |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,237,003 (GRCm39) |
A3E |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,704,208 (GRCm39) |
V9274L |
unknown |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,872 (GRCm39) |
I735F |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,454 (GRCm39) |
C379R |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,149,607 (GRCm39) |
E332K |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,920,732 (GRCm39) |
T1331A |
probably benign |
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 |
|
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 |
|
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'- AGATGGTCTAAGCCAGCCTC -3'
Sequencing Primer
(F):5'- TACCAAGAACCAGCTGACAGG -3'
(R):5'- CTGCTTCTGCTAATATGTTATTGGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation