Incidental Mutation 'R9379:Tut7'
| ID |
709888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut7
|
| Ensembl Gene |
ENSMUSG00000035248 |
| Gene Name |
terminal uridylyl transferase 7 |
| Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R9379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59936288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1271
(Y1271C)
|
| 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: Y1271C
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: Y1271C
| 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: Y869C
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,451,201 (GRCm39) |
I136F |
possibly damaging |
Het |
| 1700019D03Rik |
T |
A |
1: 52,964,635 (GRCm39) |
D31V |
probably benign |
Het |
| Abca14 |
G |
T |
7: 119,807,202 (GRCm39) |
E83* |
probably null |
Het |
| Abcc5 |
T |
C |
16: 20,152,437 (GRCm39) |
T1370A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,777,680 (GRCm39) |
V1621A |
probably benign |
Het |
| Ano8 |
T |
A |
8: 71,936,178 (GRCm39) |
Q206L |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,208,959 (GRCm39) |
I831F |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,611,315 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn2 |
G |
A |
5: 121,885,509 (GRCm39) |
V239I |
probably damaging |
Het |
| B230219D22Rik |
C |
A |
13: 55,847,283 (GRCm39) |
A132E |
probably damaging |
Het |
| Btbd17 |
C |
A |
11: 114,682,749 (GRCm39) |
W321L |
possibly damaging |
Het |
| Cacna1i |
T |
A |
15: 80,259,495 (GRCm39) |
V1255E |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,846,318 (GRCm39) |
I132V |
|
Het |
| Chd7 |
A |
G |
4: 8,752,210 (GRCm39) |
S236G |
unknown |
Het |
| Clasp1 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTG |
1: 118,509,157 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
TGC |
TGCCGC |
1: 118,509,168 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,249,838 (GRCm39) |
H1658L |
unknown |
Het |
| D630044L22Rik |
A |
G |
17: 26,180,856 (GRCm39) |
H102R |
possibly damaging |
Het |
| Dact3 |
G |
A |
7: 16,620,013 (GRCm39) |
V503I |
unknown |
Het |
| Dcn |
G |
T |
10: 97,343,643 (GRCm39) |
R201L |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,024,567 (GRCm39) |
V1747A |
possibly damaging |
Het |
| Dnajc14 |
T |
A |
10: 128,652,743 (GRCm39) |
|
probably null |
Het |
| Dspp |
A |
T |
5: 104,322,760 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
C |
15: 81,532,760 (GRCm39) |
V1666A |
unknown |
Het |
| Flvcr2 |
A |
G |
12: 85,850,000 (GRCm39) |
I429V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,042 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
T |
10: 119,780,961 (GRCm39) |
L203F |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,051,697 (GRCm39) |
L250P |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,027,844 (GRCm39) |
S221P |
probably damaging |
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,469,848 (GRCm39) |
L1439P |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,745,169 (GRCm39) |
T311A |
probably damaging |
Het |
| Kif21a |
C |
T |
15: 90,854,030 (GRCm39) |
R779Q |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,916,166 (GRCm39) |
E231G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,756,356 (GRCm39) |
Y710* |
probably null |
Het |
| Mixl1 |
A |
G |
1: 180,522,258 (GRCm39) |
S208P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,557,467 (GRCm39) |
Q2942L |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup85 |
T |
C |
11: 115,469,424 (GRCm39) |
I322T |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,265,089 (GRCm39) |
D426G |
possibly damaging |
Het |
| Or10n7-ps1 |
A |
G |
9: 39,598,114 (GRCm39) |
L42P |
probably damaging |
Het |
| Or7e169 |
T |
A |
9: 19,757,212 (GRCm39) |
K234N |
possibly damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,447 (GRCm39) |
L165F |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,605 (GRCm39) |
M48T |
possibly damaging |
Het |
| Osbpl9 |
A |
T |
4: 108,940,399 (GRCm39) |
H178Q |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,680,853 (GRCm39) |
V260A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,492,474 (GRCm39) |
T1777I |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,581,874 (GRCm39) |
D47G |
probably benign |
Het |
| Pram1 |
T |
C |
17: 33,860,441 (GRCm39) |
V336A |
probably damaging |
Het |
| Prl |
T |
A |
13: 27,243,503 (GRCm39) |
I58N |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,348,934 (GRCm39) |
D630G |
unknown |
Het |
| Ralgapa1 |
G |
C |
12: 55,769,583 (GRCm39) |
P803A |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,779,071 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,898,002 (GRCm39) |
C131Y |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,600,548 (GRCm39) |
I54V |
probably benign |
Het |
| St6galnac3 |
A |
G |
3: 153,215,070 (GRCm39) |
V28A |
probably benign |
Het |
| Stra6l |
A |
T |
4: 45,849,093 (GRCm39) |
T6S |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,946,431 (GRCm39) |
T418M |
probably damaging |
Het |
| Taf6 |
A |
G |
5: 138,181,952 (GRCm39) |
I92T |
possibly damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,619,517 (GRCm39) |
S170N |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,819 (GRCm39) |
D541G |
probably damaging |
Het |
| Trav13n-3 |
T |
G |
14: 53,574,853 (GRCm39) |
L32V |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,966,739 (GRCm39) |
T542A |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,189,376 (GRCm39) |
S53T |
probably benign |
Het |
| Ubap2 |
A |
T |
4: 41,216,630 (GRCm39) |
S268T |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,881,889 (GRCm39) |
V998A |
probably benign |
Het |
| Usp44 |
T |
A |
10: 93,688,635 (GRCm39) |
I562K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,496,066 (GRCm39) |
T553A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,650 (GRCm39) |
V135A |
probably damaging |
Het |
| Wbp2nl |
T |
A |
15: 82,198,311 (GRCm39) |
S283T |
possibly damaging |
Het |
| Wnk1 |
G |
A |
6: 119,928,678 (GRCm39) |
T1092I |
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 |
|
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 |
|
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'- TGGAGGCACTAGTCACTTAAAACG -3'
(R):5'- ACAGTGACATCCTTGTTCCC -3'
Sequencing Primer
(F):5'- GTCACTTAAAACGAACCTTTAGGG -3'
(R):5'- CTTGCATCTGTAGCCCACTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation