Incidental Mutation 'R5994:Tut7'
ID |
481023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tut7
|
Ensembl Gene |
ENSMUSG00000035248 |
Gene Name |
terminal uridylyl transferase 7 |
Synonyms |
Zcchc6, Tent3b, 6030448M23Rik |
MMRRC Submission |
044173-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R5994 (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 G
at 59937023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 806
(Y806S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153376
(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: Y1208S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071623 Gene: ENSMUSG00000035248 AA Change: Y1208S
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 |
noncoding transcript
Transcript: ENSMUST00000224320
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224480
AA Change: Y806S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225607
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,647,862 (GRCm39) |
H1118L |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,840,592 (GRCm39) |
|
probably null |
Het |
Abcb5 |
A |
T |
12: 118,928,995 (GRCm39) |
|
probably null |
Het |
Adcy6 |
A |
T |
15: 98,491,545 (GRCm39) |
I1016N |
probably damaging |
Het |
Afg3l2 |
A |
T |
18: 67,562,140 (GRCm39) |
C312S |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,478 (GRCm39) |
V89M |
probably damaging |
Het |
Arhgap21 |
C |
T |
2: 20,886,187 (GRCm39) |
G330D |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,715,935 (GRCm39) |
L195P |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,874,943 (GRCm39) |
I514T |
probably damaging |
Het |
Ctdsp2 |
G |
A |
10: 126,831,689 (GRCm39) |
|
probably benign |
Het |
Cyp4x1 |
T |
C |
4: 114,979,142 (GRCm39) |
I152V |
probably benign |
Het |
Dglucy |
G |
A |
12: 100,808,959 (GRCm39) |
R219Q |
probably benign |
Het |
Disp3 |
G |
T |
4: 148,338,741 (GRCm39) |
A810E |
possibly damaging |
Het |
Dtx4 |
T |
C |
19: 12,478,517 (GRCm39) |
Y22C |
probably damaging |
Het |
Edaradd |
A |
T |
13: 12,493,377 (GRCm39) |
I105N |
probably damaging |
Het |
Eepd1 |
C |
T |
9: 25,514,749 (GRCm39) |
P519S |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,430,294 (GRCm39) |
S155C |
probably benign |
Het |
Gm10134 |
A |
T |
2: 28,396,258 (GRCm39) |
E51V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golga7 |
T |
C |
8: 23,740,281 (GRCm39) |
E83G |
probably benign |
Het |
Gpr12 |
T |
C |
5: 146,520,241 (GRCm39) |
H227R |
probably damaging |
Het |
Hoxa2 |
T |
G |
6: 52,141,372 (GRCm39) |
S85R |
possibly damaging |
Het |
Hrnr |
T |
C |
3: 93,239,607 (GRCm39) |
S3282P |
unknown |
Het |
Ift74 |
C |
A |
4: 94,579,961 (GRCm39) |
T543K |
possibly damaging |
Het |
Klf10 |
C |
A |
15: 38,296,285 (GRCm39) |
R420L |
probably damaging |
Het |
Krt77 |
T |
A |
15: 101,771,290 (GRCm39) |
I338F |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,131,965 (GRCm39) |
S152C |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,234 (GRCm39) |
H270L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,196,481 (GRCm39) |
L504Q |
probably null |
Het |
Nckipsd |
A |
G |
9: 108,691,176 (GRCm39) |
Q366R |
probably benign |
Het |
Npy5r |
A |
T |
8: 67,134,751 (GRCm39) |
V14D |
probably benign |
Het |
Nrap |
T |
A |
19: 56,340,031 (GRCm39) |
R830* |
probably null |
Het |
Ogfrl1 |
A |
T |
1: 23,418,070 (GRCm39) |
Y103N |
probably damaging |
Het |
Or10g7 |
A |
T |
9: 39,905,519 (GRCm39) |
R138* |
probably null |
Het |
P2rx4 |
T |
A |
5: 122,863,142 (GRCm39) |
L232H |
probably damaging |
Het |
Pabpc2 |
A |
T |
18: 39,906,947 (GRCm39) |
T71S |
probably benign |
Het |
Paip2b |
C |
A |
6: 83,785,867 (GRCm39) |
S121I |
probably damaging |
Het |
Pofut1 |
C |
T |
2: 153,103,149 (GRCm39) |
T261I |
possibly damaging |
Het |
Ppp6c |
G |
T |
2: 39,101,004 (GRCm39) |
T46K |
possibly damaging |
Het |
Prkd2 |
C |
A |
7: 16,584,261 (GRCm39) |
H371Q |
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,501,725 (GRCm39) |
|
probably null |
Het |
Psd3 |
C |
T |
8: 68,172,620 (GRCm39) |
A894T |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,448,073 (GRCm39) |
|
probably null |
Het |
Pzp |
A |
T |
6: 128,468,560 (GRCm39) |
M989K |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,203,373 (GRCm39) |
S1159T |
probably benign |
Het |
Rapgefl1 |
T |
C |
11: 98,740,986 (GRCm39) |
F575L |
probably benign |
Het |
Rassf6 |
A |
G |
5: 90,765,627 (GRCm39) |
L28S |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,676,857 (GRCm39) |
K268N |
probably damaging |
Het |
Rela |
C |
T |
19: 5,697,092 (GRCm39) |
T433M |
possibly damaging |
Het |
Rnf103 |
T |
A |
6: 71,473,894 (GRCm39) |
S102R |
probably damaging |
Het |
Scarf2 |
A |
G |
16: 17,624,243 (GRCm39) |
N516S |
probably damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,429,403 (GRCm39) |
I241T |
probably damaging |
Het |
Septin7 |
T |
C |
9: 25,199,494 (GRCm39) |
I131T |
possibly damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,357,570 (GRCm39) |
F191L |
probably damaging |
Het |
Siglec15 |
C |
A |
18: 78,090,590 (GRCm39) |
C236F |
probably damaging |
Het |
Slc11a2 |
T |
C |
15: 100,295,562 (GRCm39) |
T520A |
probably benign |
Het |
Slc26a11 |
C |
A |
11: 119,270,738 (GRCm39) |
F553L |
probably benign |
Het |
Smchd1 |
G |
A |
17: 71,672,404 (GRCm39) |
P1596S |
possibly damaging |
Het |
Taar7b |
A |
G |
10: 23,876,246 (GRCm39) |
H137R |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,237 (GRCm39) |
C468* |
probably null |
Het |
Timp4 |
C |
T |
6: 115,224,315 (GRCm39) |
G118D |
probably damaging |
Het |
Tnnt3 |
A |
G |
7: 142,065,003 (GRCm39) |
K48E |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 137,862,475 (GRCm39) |
I255N |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,133,189 (GRCm39) |
|
probably null |
Het |
Ube4b |
A |
G |
4: 149,457,389 (GRCm39) |
Y283H |
probably damaging |
Het |
Ucp1 |
G |
T |
8: 84,020,567 (GRCm39) |
V126L |
possibly damaging |
Het |
Unc13b |
T |
A |
4: 43,172,596 (GRCm39) |
|
probably benign |
Het |
Vps13b |
T |
C |
15: 35,875,918 (GRCm39) |
S2768P |
probably damaging |
Het |
Zfp101 |
T |
A |
17: 33,599,936 (GRCm39) |
M607L |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,805,464 (GRCm39) |
V2527M |
possibly damaging |
Het |
Zfp503 |
T |
A |
14: 22,035,630 (GRCm39) |
T429S |
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 |
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 |
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'- ATGGTCTAAGCCAGCCTCTG -3'
Sequencing Primer
(F):5'- TGGTACAGCGCCTGGAACAC -3'
(R):5'- CTGCTTCTGCTAATATGTTATTGGTC -3'
|
Posted On |
2017-06-26 |