Incidental Mutation 'R6415:Tut7'
| ID |
517890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
044557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R6415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3817 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 59964110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071703]
[ENSMUST00000225576]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071703
AA Change: E265V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: E265V
| 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 null
Transcript: ENSMUST00000225576
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,881,296 (GRCm39) |
T482M |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,468,498 (GRCm39) |
Y513H |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,222,540 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,759 (GRCm39) |
D326G |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,354,243 (GRCm39) |
I224T |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,309,612 (GRCm39) |
I402M |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,398 (GRCm39) |
C73S |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,913,739 (GRCm39) |
R880H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,830,986 (GRCm39) |
N218D |
unknown |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,831,365 (GRCm39) |
F483L |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,436,939 (GRCm39) |
D963G |
probably benign |
Het |
| Dhx8 |
G |
T |
11: 101,628,513 (GRCm39) |
A142S |
unknown |
Het |
| Dock7 |
C |
T |
4: 98,880,685 (GRCm39) |
R926Q |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,594,975 (GRCm39) |
Q693* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,117,024 (GRCm39) |
C1234Y |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,089,102 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
T |
C |
15: 58,314,766 (GRCm39) |
L549P |
probably damaging |
Het |
| Fxyd2 |
T |
A |
9: 45,314,592 (GRCm39) |
Y5N |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gpr182 |
T |
A |
10: 127,586,375 (GRCm39) |
D192V |
possibly damaging |
Het |
| Gps1 |
T |
C |
11: 120,678,548 (GRCm39) |
V286A |
possibly damaging |
Het |
| Grk1 |
A |
G |
8: 13,463,127 (GRCm39) |
Y383C |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,656 (GRCm39) |
Y122H |
probably benign |
Het |
| Hic1 |
G |
A |
11: 75,057,143 (GRCm39) |
P582L |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,607,279 (GRCm39) |
F328L |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,877,927 (GRCm39) |
K301E |
possibly damaging |
Het |
| Lrp3 |
A |
T |
7: 34,903,593 (GRCm39) |
V251E |
probably benign |
Het |
| Mapt |
G |
A |
11: 104,189,824 (GRCm39) |
G265S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,925,956 (GRCm39) |
D6245E |
probably damaging |
Het |
| Or10al2 |
G |
T |
17: 37,983,448 (GRCm39) |
C178F |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,342,617 (GRCm39) |
S7G |
probably damaging |
Het |
| Or4b1c |
T |
A |
2: 90,126,381 (GRCm39) |
I275F |
probably damaging |
Het |
| Or4c10b |
T |
C |
2: 89,711,206 (GRCm39) |
L12P |
probably damaging |
Het |
| Or6c207 |
T |
C |
10: 129,104,890 (GRCm39) |
T101A |
probably benign |
Het |
| Or7e165 |
T |
A |
9: 19,695,044 (GRCm39) |
I205N |
probably damaging |
Het |
| Or7g19 |
T |
C |
9: 18,856,415 (GRCm39) |
L157P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,241,904 (GRCm38) |
H288Q |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,278 (GRCm39) |
M1128I |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,127,614 (GRCm39) |
Y699H |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,459 (GRCm39) |
I323N |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,264 (GRCm39) |
V1216A |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,620,176 (GRCm39) |
|
probably benign |
Het |
| Prelp |
A |
T |
1: 133,840,516 (GRCm39) |
I322N |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,395 (GRCm39) |
I250N |
probably damaging |
Het |
| Prss27 |
T |
A |
17: 24,261,882 (GRCm39) |
C63* |
probably null |
Het |
| Rab38 |
G |
A |
7: 88,079,748 (GRCm39) |
A47T |
possibly damaging |
Het |
| Rprd2 |
G |
A |
3: 95,681,531 (GRCm39) |
A436V |
probably benign |
Het |
| Sacs |
A |
T |
14: 61,442,808 (GRCm39) |
N1618I |
probably damaging |
Het |
| Scp2 |
T |
G |
4: 107,962,337 (GRCm39) |
S63R |
probably benign |
Het |
| Sftpb |
T |
G |
6: 72,281,633 (GRCm39) |
W9G |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,780,415 (GRCm39) |
L125* |
probably null |
Het |
| Sptlc1 |
T |
C |
13: 53,505,728 (GRCm39) |
|
probably null |
Het |
| Sub1 |
T |
A |
15: 11,986,560 (GRCm39) |
M96L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,667,458 (GRCm39) |
V1233A |
probably benign |
Het |
| Tmem140 |
A |
T |
6: 34,849,658 (GRCm39) |
D58V |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,083,811 (GRCm39) |
Y91H |
probably benign |
Het |
| Trap1 |
C |
T |
16: 3,861,856 (GRCm39) |
R636H |
possibly damaging |
Het |
| Ttc14 |
A |
G |
3: 33,857,724 (GRCm39) |
H275R |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,391,869 (GRCm39) |
W494R |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,921,438 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,975,510 (GRCm39) |
I380N |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,838,063 (GRCm39) |
F798L |
possibly 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 |
|
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'- AAATCTCCCAGTGAAGGCAGAC -3'
(R):5'- GCCAAGGGATAATTAGCATGAC -3'
Sequencing Primer
(F):5'- CCAGTGAAGGCAGACACAACTG -3'
(R):5'- TGACTGTCAAGCTTGGAAGTAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation