Incidental Mutation 'R9313:Tut7'
| ID |
705738 |
| 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 # |
R9313 (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 59947798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 841
(M841K)
|
| 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: M841K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: M841K
| 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: M439K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225241
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
| Aadat |
G |
A |
8: 60,979,635 (GRCm39) |
V166I |
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,565,207 (GRCm39) |
S75N |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
| Atp5po |
CTTTGACG |
C |
16: 91,723,804 (GRCm39) |
|
probably null |
Het |
| Atp5po |
TTTGACGGT |
TT |
16: 91,723,805 (GRCm39) |
|
probably null |
Het |
| Car9 |
A |
G |
4: 43,507,180 (GRCm39) |
E42G |
probably benign |
Het |
| Ccdc168 |
A |
G |
1: 44,096,520 (GRCm39) |
V1526A |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,680,345 (GRCm39) |
K9R |
probably null |
Het |
| Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
| Ckm |
A |
G |
7: 19,149,398 (GRCm39) |
T141A |
probably benign |
Het |
| Clcc1 |
G |
T |
3: 108,581,976 (GRCm39) |
R360S |
probably benign |
Het |
| Clcn3 |
A |
C |
8: 61,390,503 (GRCm39) |
I146R |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,951,466 (GRCm39) |
D115G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,641 (GRCm39) |
*386Q |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,730,262 (GRCm39) |
V899A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,688 (GRCm39) |
S362P |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,006,655 (GRCm39) |
D78E |
probably benign |
Het |
| Fsd1l |
T |
G |
4: 53,694,760 (GRCm39) |
W405G |
probably damaging |
Het |
| Fsd1l |
T |
C |
4: 53,701,093 (GRCm39) |
V485A |
possibly damaging |
Het |
| Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
| Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
| Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
| Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
| Hsd17b13 |
A |
G |
5: 104,113,639 (GRCm39) |
|
probably null |
Het |
| Ift57 |
T |
A |
16: 49,557,085 (GRCm39) |
D235E |
possibly damaging |
Het |
| Il22b |
A |
G |
10: 118,130,138 (GRCm39) |
C89R |
probably damaging |
Het |
| Iqcn |
G |
A |
8: 71,161,353 (GRCm39) |
G182D |
probably damaging |
Het |
| Krt9 |
T |
A |
11: 100,079,547 (GRCm39) |
Y615F |
unknown |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,535,923 (GRCm39) |
S598T |
probably damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,463,436 (GRCm39) |
R1265L |
probably damaging |
Het |
| Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
| Or2m12 |
T |
G |
16: 19,105,100 (GRCm39) |
Y131S |
probably benign |
Het |
| Or4x13 |
C |
A |
2: 90,231,917 (GRCm39) |
T304K |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,076 (GRCm39) |
S90P |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,789 (GRCm39) |
I223N |
probably damaging |
Het |
| Paqr8 |
G |
A |
1: 21,005,128 (GRCm39) |
W94* |
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,813,932 (GRCm39) |
G4132D |
probably damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,168,506 (GRCm39) |
M926V |
probably benign |
Het |
| Postn |
A |
T |
3: 54,273,336 (GRCm39) |
Y79F |
probably damaging |
Het |
| Prl7d1 |
T |
C |
13: 27,893,182 (GRCm39) |
E242G |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Rnf157 |
A |
G |
11: 116,250,718 (GRCm39) |
V161A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,143,584 (GRCm39) |
T150M |
probably damaging |
Het |
| Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,794,518 (GRCm39) |
D425V |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,061,856 (GRCm39) |
D534G |
probably benign |
Het |
| Sipa1l3 |
T |
A |
7: 29,077,439 (GRCm39) |
T778S |
probably benign |
Het |
| Slc13a1 |
A |
G |
6: 24,108,203 (GRCm39) |
V291A |
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,881,454 (GRCm39) |
I439V |
probably benign |
Het |
| Tdrd7 |
G |
A |
4: 46,005,319 (GRCm39) |
S375N |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,191 (GRCm39) |
I10L |
probably benign |
Het |
| Vmn2r34 |
T |
G |
7: 7,686,817 (GRCm39) |
L293F |
possibly damaging |
Het |
| Xirp2 |
G |
T |
2: 67,347,322 (GRCm39) |
A3188S |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
| Zfp341 |
C |
A |
2: 154,469,907 (GRCm39) |
P197T |
probably damaging |
Het |
| Zfp628 |
G |
A |
7: 4,922,549 (GRCm39) |
R257H |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,784,324 (GRCm39) |
Y741S |
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 |
|
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'- TGTATCTTCACCCTTAGCAGGC -3'
(R):5'- CACCCAGAACTGCAGAACTGTG -3'
Sequencing Primer
(F):5'- CTCTGCCAAGTCATCTTCTTCAGAG -3'
(R):5'- AGAACTGTGGCAGCCTGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation