Incidental Mutation 'R9404:Tut7'
| ID |
711430 |
| 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: 0.796)
|
| Stock # |
R9404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59919690-59971060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59947701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 873
(N873K)
|
| 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: N873K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: N873K
| 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: N471K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,615,509 (GRCm39) |
K314R |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,005,064 (GRCm39) |
V1167A |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,557 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,254 (GRCm39) |
L73Q |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,914 (GRCm39) |
E274G |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,194,178 (GRCm39) |
V845A |
possibly damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,258 (GRCm39) |
T310A |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,022,940 (GRCm39) |
M388T |
unknown |
Het |
| Fat2 |
A |
G |
11: 55,144,348 (GRCm39) |
|
probably null |
Het |
| Gm8225 |
T |
A |
17: 26,762,034 (GRCm39) |
I75N |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,474,919 (GRCm39) |
Y526C |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,131,859 (GRCm39) |
I203F |
possibly damaging |
Het |
| Insl5 |
T |
C |
4: 102,875,535 (GRCm39) |
R72G |
probably benign |
Het |
| Iqcb1 |
T |
C |
16: 36,671,632 (GRCm39) |
V321A |
probably damaging |
Het |
| Iqcd |
A |
C |
5: 120,738,601 (GRCm39) |
T140P |
|
Het |
| Kcnt2 |
T |
A |
1: 140,353,107 (GRCm39) |
I272K |
probably damaging |
Het |
| Klhl25 |
A |
C |
7: 75,515,153 (GRCm39) |
I20L |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrba |
T |
C |
3: 86,205,224 (GRCm39) |
V356A |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,887,933 (GRCm39) |
Y1159H |
probably damaging |
Het |
| Mavs |
T |
A |
2: 131,083,818 (GRCm39) |
L105Q |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,348,225 (GRCm39) |
C902S |
|
Het |
| Mmp17 |
A |
G |
5: 129,682,741 (GRCm39) |
D460G |
possibly damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,454 (GRCm39) |
A466S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,147,788 (GRCm39) |
N2744D |
probably damaging |
Het |
| Oga |
CTCGGGTC |
CTC |
19: 45,743,096 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
A |
7: 140,284,722 (GRCm39) |
L186H |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,750 (GRCm39) |
V195A |
probably benign |
Het |
| Or2aj4 |
C |
T |
16: 19,384,731 (GRCm39) |
V301M |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,551 (GRCm39) |
M131L |
probably benign |
Het |
| Or6d13 |
T |
G |
6: 116,517,708 (GRCm39) |
I98S |
probably damaging |
Het |
| Or8g55 |
A |
T |
9: 39,784,708 (GRCm39) |
I46F |
possibly damaging |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Pax5 |
G |
A |
4: 44,645,565 (GRCm39) |
P255S |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,067 (GRCm39) |
T304A |
probably benign |
Het |
| Pcsk1 |
T |
G |
13: 75,280,342 (GRCm39) |
S722R |
probably benign |
Het |
| Pcsk9 |
C |
A |
4: 106,311,723 (GRCm39) |
R218L |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,776,307 (GRCm39) |
I96F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,703,270 (GRCm39) |
V889L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,878,468 (GRCm39) |
|
probably null |
Het |
| Pnn |
A |
G |
12: 59,118,758 (GRCm39) |
E447G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,025,840 (GRCm39) |
L289P |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,152,753 (GRCm39) |
H298R |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,216,025 (GRCm39) |
N1277S |
|
Het |
| Pus10 |
T |
A |
11: 23,661,202 (GRCm39) |
F263L |
possibly damaging |
Het |
| Rexo5 |
A |
G |
7: 119,400,542 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,382,615 (GRCm39) |
C23* |
probably null |
Het |
| Runx1 |
T |
C |
16: 92,485,915 (GRCm39) |
N140D |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Scn9a |
G |
A |
2: 66,357,040 (GRCm39) |
T1087I |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TC |
TCAGCCACGGGGACCAGCCC |
7: 126,066,771 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,335,488 (GRCm39) |
H350R |
possibly damaging |
Het |
| Spaca6 |
T |
C |
17: 18,057,800 (GRCm39) |
C155R |
probably damaging |
Het |
| Spire2 |
C |
T |
8: 124,090,077 (GRCm39) |
R580* |
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,706,616 (GRCm39) |
M851K |
probably benign |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tlcd4 |
T |
C |
3: 121,028,731 (GRCm39) |
N52S |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,296 (GRCm39) |
T236A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,752,225 (GRCm39) |
C1709R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,584,500 (GRCm39) |
S22203T |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,763 (GRCm39) |
T701A |
probably damaging |
Het |
| Ufl1 |
T |
C |
4: 25,275,912 (GRCm39) |
I164V |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,856 (GRCm39) |
T176A |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,513,626 (GRCm39) |
D493E |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,247 (GRCm39) |
W378R |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,876,565 (GRCm39) |
T2799S |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,426,927 (GRCm39) |
S1337P |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,839,862 (GRCm39) |
I94F |
possibly damaging |
Het |
| Zfp3 |
A |
G |
11: 70,663,366 (GRCm39) |
K442E |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,185,104 (GRCm39) |
I356F |
possibly damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,185 (GRCm39) |
G68S |
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 |
|
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 |
|
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'- CCCCAGGTAAATCTTCCTCAGG -3'
(R):5'- TTGGACAACAAGGCTGAGGTC -3'
Sequencing Primer
(F):5'- AGGTAAATCTTCCTCAGGAAAGC -3'
(R):5'- CAACAAGGCTGAGGTCAATGAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation